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First_Aid_Step2. Presents in infancy or early childhood with dyspnea and fatigability. Cyanosis is often not present at birth but develops over the first two years of life; the degree of cyanosis often reﬂects the extent of pulmonary stenosis. Infants are often asymptomatic until 4–6 months of age, when CHF may develop and may manifest as diaphoresis with feeding or tachypnea. Children often squat for relief (↑ systemic vascular resistance) during hypoxemic episodes (“tet spells”). Hypoxemia may lead to FTT or mental status changes. Exam reveals a systolic ejection murmur at the left upper sternal border (right ventricular outﬂow obstruction), a right ventricular heave, and a single S2. Echocardiography and catheterization. CXR shows a “boot-shaped” heart with ↓ pulmonary vascular markings. Remember that a VSD may result in ↑ pulmonary vascular markings. ECG shows right-axis deviation and RVH.


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First_Aid_Step2. CXR shows a “boot-shaped” heart with ↓ pulmonary vascular markings. Remember that a VSD may result in ↑ pulmonary vascular markings. ECG shows right-axis deviation and RVH. Lesions with severe pulmonary stenosis or atresia require immediate PGE1 to keep the PDA open along with urgent surgical consultation. Treat hypercyanotic “tet spells” with O2, propranolol, phenylephrine, knee-chest position, ﬂuids, and morphine. Temporary palliation can be achieved through the creation of an artificial shunt (e.g., balloon atrial septostomy) before definitive surgical correction (Blalock-Taussig shunt). Coarctation in infancy may present with differential cyanosis, while transposition of the great arteries may present with reverse differential cyanosis. Transposition of the great vessels is the most common cyanotic heart disease of newborns. Tetralogy of Fallot is the most common cyanotic heart disease of childhood.


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First_Aid_Step2. Transposition of the great vessels is the most common cyanotic heart disease of newborns. Tetralogy of Fallot is the most common cyanotic heart disease of childhood. Both transposition of the great vessels and tetralogy of Fallot are initially treated with PGE1 and are def nitively treated with surgical correction. Table 2.13-1 highlights major developmental milestones. Commonly tested milestones appear in bold.


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First_Aid_Step2. T AB LE 2.1 3-1. Developmental Milestones 2 months Lifts head/chest when prone. Tracks past midline. Alerts to sound; coos. Recognizes parent; social smile. 4–5 months Rolls front to back, back to front (5 months). Grasps rattle. Orients to voice; begins to make consonant sounds; razzes. Enjoys looking around; laughs. 6 months Sits unassisted. Transfers objects; raking grasp. Babbles. Stranger anxiety. 9–10 months Crawls; pulls to stand. Uses three-finger (immature) pincer grasp. Says “mama/dada” (nonspecif c). Waves bye-bye; plays pat-a-cake. 12 months Cruises (11 months); walks alone. Uses two-finger (mature) pincer grasp. Says “mama/dada” (specif c). Imitates actions; separation anxiety. 15 months Walks backward. Uses cup. Uses 4–6 words. Temper tantrums. 18 months Runs; kicks a ball. Builds tower of 2–4 cubes. Names common objects. May start toilet training. 2 years Walks up/down steps with help; jumps. Builds tower of six cubes. Uses two-word phrases. Follows two-step commands;


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First_Aid_Step2. Builds tower of 2–4 cubes. Names common objects. May start toilet training. 2 years Walks up/down steps with help; jumps. Builds tower of six cubes. Uses two-word phrases. Follows two-step commands; removes clothes. 3 years Rides tricycle; climbs stairs with alternating feet (3–4 years). Copies a circle; uses utensils. Uses three-word sentences. Brushes teeth with help; washes/dries hands. Hops. Copies a square. Knows colors and some numbers. Cooperative play; plays board games. Skips; walks backward for long distances. Ties shoelaces; knows left and right; prints letters. Uses f ve-word sentences. Domestic role playing; plays dress-up. 4 years 5 years a For premature infants < 2 years of age, chronological age must be adjusted for gestational age. For example, an infant born at seven months’ gestation (two months early) would be expected to perform at the four-month level at the chronological age of six months.


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First_Aid_Step2. At each well-child check, height, weight, and head circumference are plotted on growth charts specific for gender and age: Head circumference: Measured routinely in the first two years. ↑ head circumference can indicate hydrocephalus or tumor; ↓ head circumference can point to microcephaly (e.g., TORCH infections). Height and weight: Measured routinely until adulthood. The pattern of growth is more important than the raw numbers. Infants may lose 5–10% of birth weight (BW) over the first few days but should return to their BW by 14 days. Infants can be expected to double their BW by 4–5 months, triple by one year, and quadruple by two years. Failure to thrive: Persistent weight less than the 5th percentile for age or “falling off the growth curve” (i.e., crossing two major percentile lines on a growth chart). Classified as follows:


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First_Aid_Step2. Failure to thrive: Persistent weight less than the 5th percentile for age or “falling off the growth curve” (i.e., crossing two major percentile lines on a growth chart). Classified as follows: Organic: Due to an underlying medical condition such as cystic fibro-sis, congenital heart disease, celiac sprue, pyloric stenosis, chronic infection (e.g., HIV), and GERD. Nonorganic: Primarily due to psychosocial factors such as maternal depression, neglect, or abuse. A careful dietary history and close observation of maternal-infant interactions (especially preparation of formula and feeding) are critical to diagnosis. Children should be hospitalized if there is evidence of neglect or severe malnourishment. Calorie counts and supplemental nutrition (if breastfeeding is inadequate) are mainstays of treatment.


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First_Aid_Step2. Children should be hospitalized if there is evidence of neglect or severe malnourishment. Calorie counts and supplemental nutrition (if breastfeeding is inadequate) are mainstays of treatment. Tanner staging: Performed to assess physical development in boys and girls. Stage 1 is preadolescent; stage 5 is adult. Increasing stages are assigned for testicular and penile growth in boys and breast growth in girls; pubic hair development is used for both stages. Girls: The average age of puberty is 10.5 years. Generally the order of progression is thelarche (breast bud development) → pubarche (pubic hair development) → growth spurt → menarche (first menstrual bleeding). The average age of menarche in United States girls is 12.5 years. Boys: The average age of puberty is 11.5 years. Generally the order of progression is gonadarche (testicular enlargement) → pubarche → adrenarche (axillary hair, facial hair, vocal changes) → growth spurt.


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First_Aid_Step2. Variants of normal sexual development are as follows: Delayed puberty: No testicular enlargement in boys by age 14, or no breast development or pubic hair in girls by age 13. Constitutional growth delay: A normal variant, and the most common cause of delayed puberty. The growth curve lags behind others of the same age but is consistent. There is often a family history, and children ultimately achieve target height potential. Pathological puberty delay: Rarely, due to systemic disease (e.g., IBD), malnutrition (e.g., anorexia nervosa), gonadal dysgenesis (e.g., Klinefelter’s syndrome, Turner’s syndrome), or endocrine abnormalities (e.g., hypopituitarism, hypothyroidism, Kallmann’s syndrome, androgen insensitivity syndrome, Prader-Willi syndrome) Precocious puberty: Any sign of 2° sexual maturation in girls < 8 years or boys < 9 years of age. Often idiopathic; may be central or peripheral (see the Gynecology chapter).


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First_Aid_Step2. Precocious puberty: Any sign of 2° sexual maturation in girls < 8 years or boys < 9 years of age. Often idiopathic; may be central or peripheral (see the Gynecology chapter). Signs of autism include no babbling and/or gesturing by 12 months, no single words by 16 months, no two-word phrases by 24 months, failure to make eye contact, or any loss of language or social skills. Infants with FTT will f rst fall off of the weight curve, then the height curve, and f nally the head circumference curve. Tables 2.13-2 and 2.13-3 outline common genetic diseases and their associated abnormalities. TABLE 2.13-2. Genetic Diseases


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First_Aid_Step2. Down syndrome Trisomy 21 (most common) or robertsonian translocation (higher risk of recurrence) The most common chromosomal disorder and cause of mental retardation. Associated with advanced maternal age. Presents with mental retardation, a fat facial profle, prominent epicanthal folds, and a simian crease. Associated with duodenal atresia, Hirschsprung’s disease, and congenital heart disease (the most common malformation is atrioventricular canal, which includes an ASD and VSD with mitral and tricuspid valve abnormalities due to endocardial cushion defects). Associated with an ↑ risk of acute lymphocytic leukemia (ALL), hypothyroidism, and early-onset Alzheimer’s. Edwards’ syndrome Trisomy 18 Presents with severe mental retardation, rocker-bottom feet, low-set ears, micrognathia, clenched hands, and a prominent occiput. Associated with congenital heart disease. May have horseshoe kidneys. Death usually occurs within one year of birth. Patau’s syndrome Trisomy 13 Presents with severe


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First_Aid_Step2. hands, and a prominent occiput. Associated with congenital heart disease. May have horseshoe kidneys. Death usually occurs within one year of birth. Patau’s syndrome Trisomy 13 Presents with severe mental retardation, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures (holoprosencephaly), “punched-out” scalp lesions, and polydactyly. Associated with congenital heart disease. Death usually occurs within one year of birth. Klinefelter’s syndrome (male) 45,XXY Presence of an inactivated X chromosome (Barr body). One of the most common causes of hypogonadism in males. Presents with testicular atrophy, a eunuchoid body shape, tall stature, long extremities, and gynecomastia. Treat with testosterone (prevents gynecomastia; improves 2° sexual characteristics). Turner’s syndrome (female) 45,XO The most common cause of 1° amenorrhea; due to gonadal dysgenesis. No Barr body. Features include short stature, shield chest, widely spaced nipples, webbed neck, coarctation


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First_Aid_Step2. syndrome (female) 45,XO The most common cause of 1° amenorrhea; due to gonadal dysgenesis. No Barr body. Features include short stature, shield chest, widely spaced nipples, webbed neck, coarctation of the aorta, and/or bicuspid aortic valve. May present with lymphedema of the hands and feet in the neonatal period. May have horseshoe kidney. Double Y males 47,XYY Observed with ↑ frequency among inmates of penal institutions. Phenotypically normal; patients are very tall with severe acne and antisocial behavior (seen in 1–2% of XYY males).


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First_Aid_Step2. TABLE 2.13-2. Genetic Diseases (continued) Phenylketonuria (PKU) ↓ phenylalanine hydroxylase or ↓ tetrahydrobiopterin cofactor Screened for at birth; screening is valid only after the baby has had a protein meal (i.e., a normal breast or formula feed). Tyrosine becomes essential and phenylalanine builds up excess phenyl ketones. Presents with mental retardation, fair skin, eczema, and a musty or mousy urine odor. Blond-haired, blue-eyed infants. Associated with an ↑ risk of heart disease. Treat with ↓ phenylalanine and ↑ tyrosine in diet. A mother with PKU who wants to become pregnant must restrict her diet as above before conception. Fragile X syndrome An X-linked defect affecting the methylation and expression of the FMR1 gene The second most common cause of genetic mental retardation. Presents with macro-orchidism; a long face with a large jaw; large, everted ears; and autism. A triplet repeat disorder that may show genetic anticipation.


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First_Aid_Step2. An autosomal-recessive disorder caused by mutations in the CFTR gene (chloride channel) on chromosome 7 and characterized by widespread exocrine gland dysfunction. CF is the most common severe genetic disease in the United States and is most frequently found in Caucasians. Fifty percent of patients present with FTT or chronic sinopulmonary disease. Characterized by recurrent pulmonary infections (especially with Pseudomonas and S. aureus) with subsequent cyanosis, digital clubbing, cough, dyspnea, bronchiectasis, hemoptysis, chronic sinusitis, rhonchi, rales, hyperresonance to percussion, and nasal polyposis. Fifteen percent of infants present with meconium ileus. Patients usually have greasy stools and ﬂatulence; other prominent GI symptoms include pancreatitis, rectal prolapse, hypoproteinemia, biliary cirrhosis, jaundice, and esophageal varices. GI symptoms are more prominent in infancy, while pulmonary manifestations predominate thereafter.


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First_Aid_Step2. GI symptoms are more prominent in infancy, while pulmonary manifestations predominate thereafter. Additional symptoms include type 2 DM, a “salty taste,” male infertility (agenesis of the vas deferens), and unexplained hyponatremia. Patients are at risk for fat-soluble vitamin deficiency (vitamins A, D, E, and K) 2° to malabsorption and may present with manifestations of these deficiencies. Sweat chloride test > 60 mEq/L for those < 20 years of age and > 80 mEq/L in adults; DNA probe test. Most states now perform mandatory newborn screening, but occasional false positives do occur, so children must be brought in for a sweat test to distinguish disease from a carrier state. The sweat chloride test has traditionally been considered the gold standard for the diagnosis of CF, but conf rmatory genetic analysis is now routinely done. T AB LE 2.1 3-3. Lysosomal Storage Diseases


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First_Aid_Step2. Fabry’s disease Caused by a def ciency of α-galactosidase A that leads to accumulation of ceramide trihexoside in the heart, brain, and kidneys. Findings include renal failure and an ↑ risk of stroke and MI. X-linked recessive. Krabbe’s disease Absence of galactosylceramide and galactoside (due to galactosylceramidase defciency), leading to the accumulation of galactocerebroside in the brain. Characterized by optic atrophy, spasticity, and early death. Autosomal recessive. Gaucher’s disease Caused by a defciency of glucocerebrosidase that leads to the accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow (Gaucher’s cells with characteristic “crinkled paper,” enlarged cytoplasm). May present with hepatosplenomegaly, anemia, and thrombocytopenia. Type 1, the more common form, is compatible with a normal life span and does not affect the brain. Autosomal recessive. Niemann-Pick disease A defciency of sphingomyelinase that leads to the buildup of sphingomyelin


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First_Aid_Step2. common form, is compatible with a normal life span and does not affect the brain. Autosomal recessive. Niemann-Pick disease A defciency of sphingomyelinase that leads to the buildup of sphingomyelin cholesterol in reticuloendothelial and parenchymal cells and tissues. Patients with type A die by the age of three. Autosomal recessive. No man PICKs (Niemann-PICK) his nose with his sphinger. Tay-Sachs disease An absence of hexosaminidase that leads to GM2 ganglioside accumulation. Infants may appear normal until 3–6 months of age, when weakness begins and development slows and regresses. Exaggerated startle response. Death occurs by the age of three. A cherry-red spot is visible on the macula. The carrier rate is 1 in 30 Jews of European descent (1 in 300 for others). Tay-SaX lacks heXosaminidase. Metachromatic leukodystrophy A defciency of arylsulfatase A that leads to the accumulation of sulfatide in the brain, kidney, liver, and peripheral nerves. Autosomal recessive. Hurler’s


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First_Aid_Step2. Metachromatic leukodystrophy A defciency of arylsulfatase A that leads to the accumulation of sulfatide in the brain, kidney, liver, and peripheral nerves. Autosomal recessive. Hurler’s syndrome A def ciency of α-L-iduronidase that leads to corneal clouding and mental retardation. Autosomal recessive. Hunter’s syndrome A defciency of iduronate sulfatase. A mild form of Hurler’s with no corneal clouding and mild mental retardation. X-linked recessive. Hunters need to see (no corneal clouding) to aim for the X.


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First_Aid_Step2. Pulmonary manifestations are managed with chest physical therapy, bronchodilators, corticosteroids, antibiotics, and DNase. Administer pancreatic enzymes and fat-soluble vitamins A, D, E, and K for malabsorption. Nutritional counseling and support with a high-calorie and high-protein diet are essential for health maintenance. ■Patients who have severe disease (but who can tolerate surgery) may be candidates for lung or pancreas transplants. Life expectancy was once around 20 years, but with newer treatments it is increasing to past age 30.


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First_Aid_Step2. A condition in which one portion of the bowel invaginates or “telescopes” into an adjacent segment, usually proximal to the ileocecal valve (see Figure 2.131). The most common cause of bowel obstruction in the first two years of life (males > females); usually seen between three months and three years of age. The cause is often unknown. Risk factors include conditions with potential lead points, including Meckel’s diverticulum, intestinal lymphoma (> 6 years of age), Henoch-Schönlein purpura, parasites, polyps, adenovirus or rotavirus infection, celiac disease, and CF. Presents with abrupt-onset, colicky abdominal pain in apparently healthy children, often accompanied by ﬂexed knees and vomiting. The child may appear well in between episodes if intussusception is released. The classic triad is abdominal pain, vomiting, and blood per rectum (affects only one in three patients).


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First_Aid_Step2. The classic triad is abdominal pain, vomiting, and blood per rectum (affects only one in three patients). Late signs include bloody mucus in stools (red “currant jelly” stool), lethargy, and fever. The condition may progress to shock as blood ﬂow to the affected segment is compromised. On exam, look for abdominal tenderness, a stool guaiac, and a palpable “sausage-shaped” RUQ abdominal mass. FIGURE 2.13-1. Intussusception. A segment of bowel telescopes into an adjacent segment, causing obstruction. (Reproduced, with permission, from Way LW. Current Surgical Diagnosis & Treatment, 10th ed. Stamford, CT: Appleton & Lange, 1994: 1222.) enema is both diagnostic and therapeutic in most cases of intussusception. The classic metabolic derangement in pyloric stenosis is hypochloremic, hypokalemic metabolic alkalosis (due to persistent emesis of HCl). Meckel’s rule of 2’s— Most common in children under 2 2 times as common in males


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First_Aid_Step2. Meckel’s rule of 2’s— Most common in children under 2 2 times as common in males Contains 2 types of tissue (pancreatic and gastric) 2 inches long Found within 2 feet of the ileocecal valve Occurs in 2% of the population Correct any volume or electrolyte abnormalities and check CBC (for leukocytosis). Abdominal plain films are often normal early in the disease, but later they may show small bowel obstruction, perforation, or a soft tissue mass. Ultrasound may show a “target sign.” In the setting of high clinical suspicion, an air-contrast barium enema should be performed without delay, as it is diagnostic in > 95% of cases and curative in > 80%. If the child is unstable or has peritoneal signs or if enema reduction is unsuccessful, perform surgical reduction and resection of gangrenous bowel.


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First_Aid_Step2. Hypertrophy of the pyloric sphincter, leading to gastric outlet obstruction. More common in firstborn males; associated with tracheoesophageal fistula and with a maternal history of pyloric stenosis. Nonbilious emesis typically begins around three weeks of age and progresses to projectile emesis after most to all feedings. Babies initially feed well but eventually suffer from malnutrition and dehydration. Exam may reveal a palpable olive-shaped, mobile, nontender epigastric mass and visible gastric peristaltic waves. Abdominal ultrasound is the imaging modality of choice and reveals a hypertrophic pylorus. Barium studies reveal a narrow pyloric channel (“string sign”) or a pyloric beak. Correct existing dehydration and acid-base/electrolyte abnormalities. Surgical correction with pyloromyotomy.


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First_Aid_Step2. Barium studies reveal a narrow pyloric channel (“string sign”) or a pyloric beak. Correct existing dehydration and acid-base/electrolyte abnormalities. Surgical correction with pyloromyotomy. Caused by failure of the omphalomesenteric (or vitelline) duct to obliterate. The most common congenital abnormality of the small intestine, affecting up to 2% of children. Most frequently occurs in children < 2 years of age. Typically asymptomatic, and often discovered incidentally. Classically presents with sudden, painless rectal bleeding. Abdominal pain typically signifies complications such as diverticulitis, volvulus, and intussusception. A Meckel scintigraphy scan (technetium-99m pertechnetate) is diagnostic; plain films have limited value but can be useful in diagnosing obstruction or perforation. In the presence of active bleeding, treatment is excision of the diverticulum together with the adjacent ileal segment (ulcers frequently develop in adjacent ileum).


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First_Aid_Step2. In the presence of active bleeding, treatment is excision of the diverticulum together with the adjacent ileal segment (ulcers frequently develop in adjacent ileum). If the condition is asymptomatic but discovered intraoperatively, treatment is controversial but often involves excision. Congenital lack of ganglion cells in the distal colon, leading to uncoordinated peristalsis and ↓ motility. Associated with male gender, Down syndrome, Waardenburg’s syndrome, and multiple endocrine neoplasia (MEN) type 2. Neonates present with failure to pass meconium within 48 hours of birth, accompanied by bilious vomiting and FTT; children with less severe lesions may present later in life with chronic constipation. Physical exam may reveal abdominal distention and explosive discharge of stool following rectal exam.


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First_Aid_Step2. Physical exam may reveal abdominal distention and explosive discharge of stool following rectal exam. Barium enema is the imaging study of choice and reveals a narrowed distal colon with proximal dilation. Plain films reveal distended bowel loops with a paucity of air in the rectum. Anorectal manometry detects a failure of the internal sphincter to relax after distention of the rectal lumen. It is typically used in atypical presentations or older children. Full-thickness rectal biopsy confirms the diagnosis and reveals absence of the myenteric (Auerbach’s) plexus and submucosal (Meissner’s) plexus along with hypertrophied nerve trunks enhanced with acetylcholinesterase stain. Traditionally a two-stage surgical repair is used involving the creation of a diverting colostomy at the time of diagnosis, followed several weeks later by a definitive “pull-through” procedure connecting the remaining colon to the rectum. Malrotation with Volvulus


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First_Aid_Step2. Malrotation with Volvulus Congenital malrotation of the midgut results in abnormal positioning of the small intestine (cecum in the right hypochondrium) and formation of fibrous bands (Ladd’s bands). Bands predispose to obstruction and constriction of blood ﬂ ow. Often presents in the newborn period with bilious emesis, crampy abdominal pain, distention, and the passage of blood or mucus in stool. Postsurgical adhesions can lead to obstruction and volvulus at any point in life. The def nitive diagnosis of Hirschsprung’s disease requires a full-thickness rectal biopsy. Pneumatosis intestinalis on plain f lms is pathognomonic for necrotizing enterocolitis in neonates. AXR may reveal the absence of intestinal gas but may also be normal. If the patient is stable, an upper GI is the study of choice and shows an abnormal location of the ligament of Treitz. Ultrasound may be used, but sensitivity is determined by the experience of the ultrasonographer.


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First_Aid_Step2. NG tube insertion to decompress the intestine. IV ﬂ uid hydration. Surgical repair (emergent when volvulus is present). A condition in which a portion of the bowel undergoes necrosis. The most common GI emergency in neonates; most commonly occurs in premature infants but can occur in full-term infants as well. Symptoms are nonspecific and include feeding intolerance, delayed gastric emptying, abdominal distention, and bloody stools. Symptoms may rapidly progress to intestinal perforation, peritonitis, abdominal erythema, and shock. Maintain a high index of suspicion. Lab findings are nonspecific and may show hyponatremia, metabolic acidosis, leukopenia or leukocytosis with left shift, thrombocytopenia, and coagulopathy (DIC with prolonged PT, aPTT, and a D-dimer).


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First_Aid_Step2. Plain abdominal radiographs may show dilated bowel loops, pneumatosis intestinalis (intramural air bubbles representing gas produced by bacteria within the bowel wall), portal venous gas, or abdominal free air. Serial abdominal plain films should be taken every six hours. Ultrasound may also be helpful in discerning free air, areas of loculation or walled-off abscesses, and bowel necrosis. Initiate supportive measures, including NPO, an orogastric tube for gastric decompression, correction of dehydration and electrolyte abnormalities, TPN, and IV antibiotics. Indications for surgery are perforation or radiographic worsening on serial abdominal plain films. An ileostomy with mucous fistula is typically performed, with a reanastomosis later. Complications include formation of intestinal strictures and short-bowel syndrome.


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First_Aid_Step2. Complications include formation of intestinal strictures and short-bowel syndrome. Congenital immunodeficiencies are rare and often present with chronic or recurrent infections (e.g., chronic thrush), unusual or opportunistic organisms, incomplete treatment response, or FTT. Categorization is based on the one immune system component that is abnormal (see also Table 2.13-4). T AB LE 2.1 3-4. Pediatric Immunodeficiencies


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First_Aid_Step2. B cell X-linked agamma-globulinemia (Bruton’s) Common variable immunodef ciency IgA def ciency A B-cell def ciency in boys only. Immunoglobulin level drops in the 20s and 30s; usually a combined Band T-cell defect. Mild; the most common immunodef ciency. Life threatening; encapsulated Pseudomonas, Streptococcus pneumoniae, and Haemophilus infections after six months (passive immunity through maternal antibodies wanes). ↑ pyogenic upper and lower respiratory infections; ↑ risk of lymphoma and autoimmune disease. Usually asymptomatic; patients may develop recurrent respiratory or GI infections. Anaphylactic transfusion reaction due to anti-IgA antibodies is a common presentation. Quantitative immunoglobulin levels. If low, conf rm diagnosis with Band T-cell subsets (absent B cells; T cells are often high); absent tonsils and other lymphoid tissue may be a clue. Treat with prophylactic antibiotics and IVIG. Quantitative immunoglobulin levels; confrm with Band T-cell subsets; treat with


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First_Aid_Step2. are often high); absent tonsils and other lymphoid tissue may be a clue. Treat with prophylactic antibiotics and IVIG. Quantitative immunoglobulin levels; confrm with Band T-cell subsets; treat with IVIG. Quantitative IgA levels; treat infections. Do not give immunoglobulins (can lead to the production of anti-IgA antibodies). T cell Thymic aplasia (DiGeorge syndrome) See mnemonic. Presents with tetany (2° to hypocalcemia) in the f rst days of life. Variable risk of infection. ↑↑↑ infections with fungi and Pneumocystis jiroveci pneumonia (formerly P. carinii). Absolute lymphocyte count; mitogen stimulation response; delayed hypersensitivity skin testing. Treat with bone marrow transplantation and IVIG for antibody def ciency; PCP prophylaxis. Thymus transplantation is an alternative. Combined Ataxia-telangiectasia Severe combined immunodef ciency (SCID) Oculocutaneous telangiectasias and progressive cerebellar ataxia. Caused by a DNA repair defect. Severe lack of B and T cells. ↑


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First_Aid_Step2. Combined Ataxia-telangiectasia Severe combined immunodef ciency (SCID) Oculocutaneous telangiectasias and progressive cerebellar ataxia. Caused by a DNA repair defect. Severe lack of B and T cells. ↑ incidence of non-Hodgkin’s lymphoma, leukemia, and gastric carcinoma. Severe, frequent bacterial infections; chronic candidiasis; and opportunistic organisms. No specifc treatment; may require IVIG depending on the severity of the Ig def ciency. Treat with bone marrow transplant or stem cell transplant and IVIG for antibody def ciency. Needs PCP prophylaxis.


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First_Aid_Step2. T AB LE 2.1 3-4. Pediatric Immunodeficiencies (continued)


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First_Aid_Step2. Combined (continued) Wiskott-Aldrich syndrome An X-linked disorder with less severe Band T-cell dysfunction. Patients have eczema, ↑ IgE/IgA, ↓ IgM, and thrombocytopenia. The classic presentation involves bleeding, eczema, and recurrent otitis media. ↑↑ risk of atopic disorders, lymphoma/leukemia, and infection from S. pneumoniae, S. aureus, and H. inﬂ uenzae type b. Phagocytic Chronic granulomatous disease (CGD) Leukocyte adhesion def ciency Chédiak-Higashi syndrome An X-linked (2/3) or autosomal-recessive (1/3) disease with def cient superoxide production by PMNs and macrophages. Anemia, lymphadenopathy, and hypergamma-globulinemia may be present. A defect in the chemotaxis of leukocytes. An autosomal-recessive disorder that leads to Chronic skin, pulmonary, GI, and urinary tract infections; osteomyelitis and hepatitis. Infecting organisms are catalase . ↑ risk of infection with Aspergillus. May have granulomas of the skin and GI/GU tracts. Recurrent skin, mucosal, and pulmonary


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First_Aid_Step2. osteomyelitis and hepatitis. Infecting organisms are catalase . ↑ risk of infection with Aspergillus. May have granulomas of the skin and GI/GU tracts. Recurrent skin, mucosal, and pulmonary infections. May present as omphalitis in the newborn period with delayed separation of the umbilical cord. ↑↑ incidence of overwhelming infections with S. pyogenes, a defect in neutrophil S. aureus, and Pseudomonas chemotaxis/microtubule species. polymerization.


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First_Aid_Step2. The syndrome includes oculocutaneous albinism, neuropathy, and neutropenia. Treatment is supportive (IVIG and antibiotics). Patients rarely survive to adulthood. Patients with severe infections may be treated with a bone marrow transplant. Absolute neutrophil count with neutrophil assays. The nitroblue tetrazolium test is diagnostic for CGD. Treat with daily TMP-SMX; judicious use of antibiotics during infections. IFN-γ can ↓ the incidence of serious infection. Bone marrow transplantation and gene therapy are new therapies. No pus with minimal infammation in wounds (due to a chemotaxis defect). High WBCs in blood. Bone marrow transplantation is curative. Look for giant granules in neutrophils. Bone marrow transplant is the treatment of choice. T AB LE 2.1 3-4. Pediatric Immunodeficiencies (continued)


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First_Aid_Step2. Look for giant granules in neutrophils. Bone marrow transplant is the treatment of choice. T AB LE 2.1 3-4. Pediatric Immunodeficiencies (continued) Complement C1 esterase def ciency (hereditary angioedema) Terminal complement def ciency (C5–C9) An autosomal-dominant disorder with recurrent episodes of angioedema lasting 2–72 hours and provoked by stress or trauma. Inability to form membrane attack complex (MAC). Can lead to life-threatening airway edema. Recurrent meningococcal or gonococcal infections. Rarely, lupus or glomerulonephritis. Total hemolytic complement (CH50) to assess the quantity and function of complement. Purif ed C1 esterase and FFP can be used prior to surgery. Meningococcal vaccine and appropriate antibiotics.


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First_Aid_Step2. Total hemolytic complement (CH50) to assess the quantity and function of complement. Purif ed C1 esterase and FFP can be used prior to surgery. Meningococcal vaccine and appropriate antibiotics. B-cell def ciencies: Most common (50%). Typically present after six months of age with recurrent sinopulmonary, GI, and urinary tract infections with encapsulated organisms (H. inﬂ uenzae, S. pneumoniae, Neisseria meningitidis). Treated with IVIF (except for IgA deficiencies). T-cell def ciencies: Tend to present earlier (1–3 months) with opportunistic and low-grade fungal, viral, and intracellular bacterial infections (e.g., mycobacteria). 2° B-cell dysfunction may also be seen. Phagocyte def ciencies: Characterized by mucous membrane infections, abscesses, and poor wound healing. Infections with catalaseorganisms (e.g., S. aureus), fungi, and gram-enteric organisms are common.


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First_Aid_Step2. Complement def ciencies: Present in children with congenital asplenia or splenic dysfunction (sickle cell disease). Characterized by recurrent bacterial infections with encapsulated organisms. A multisystemic acute vasculitis that primarily affects young children (80% are < 5 years of age), particularly those of Asian ancestry. Divided into acute, sub-acute, and chronic phases. Acute phase: Lasts 1–2 weeks and presents with the following symptoms (fever plus four or more of the criteria below are required for diagnosis): Fever (usually > 40°C) for at least f ve days. Bilateral, nonexudative, painless conjunctivitis sparing the limbic area. Polymorphous rash (primarily truncal). Cervical lymphadenopathy (often painful and unilateral, with at least one node > 1.5 cm). Diffuse mucous membrane erythema (e.g., “strawberry tongue”); dry, red, chapped lips.


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First_Aid_Step2. Cervical lymphadenopathy (often painful and unilateral, with at least one node > 1.5 cm). Diffuse mucous membrane erythema (e.g., “strawberry tongue”); dry, red, chapped lips. Erythema of the palms and soles; indurative edema of the hands and feet; late desquamation of the fingertips (in the subacute phase). Other manifestations include sterile pyuria, gallbladder hydrops, hepatitis, and arthritis. Untreated Kawasaki disease can lead to coronary aneurysms and even myocardial infarction! Conjunctivitis Rash Adenopathy Strawberry tongue Hands and feet (red, swollen, f aky skin) BURN (fever > 40°C for ≥ 5 days) Subacute phase: Begins after the abatement of fever and typically lasts for an additional 2–3 weeks. Manifestations are thrombocytosis and elevated ESR. Untreated children may begin to develop coronary artery aneurysms (40%); all patients should be assessed by echocardiography at diagnosis.


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First_Aid_Step2. Chronic phase: Begins when all clinical symptoms have disappeared; lasts until ESR returns to baseline. Untreated children are at risk of aneurysmal expansion and MI. High-dose ASA (for inﬂammation and fever) and IVIG (to prevent aneurysms). Low-dose ASA is then continued, usually for six weeks. Children who develop coronary aneurysms may require chronic anticoagulation with ASA or other antiplatelet medications. Corticosteroids may be used in IVIG-refractory cases, but routine use is not recommended. Referral to a pediatric cardiologist and routine follow-up echocardiograms to assess for progression of coronary artery aneurysms are important parts of ongoing management. An autoimmune disorder manifesting as arthritis with “morning stiffness” and gradual loss of motion that is present for at least six weeks in a patient < 16 years of age. Formerly known as juvenile rheumatoid arthritis (JRA).


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First_Aid_Step2. Pauciarticular (oligoarthritis): Most common; four or fewer joints are involved (usually weight-bearing); usually ANA and RF . Involves young females; uveitis is common and requires slit-lamp exam for evaluation. No systemic symptoms. Polyarthritis: Involves five or more joints; symmetric. RF positivity is rare and indicates severe disease; younger children may be ANA with milder disease. Systemic symptoms are rare. Systemic-onset (Still’s disease): May present with recurrent high fever (usually > 39°C), hepatosplenomegaly, and a salmon-colored macular rash; usually RF and ANA . NSAIDs and strengthening exercises. Corticosteroids and immunosuppressive medications (methotrexate; anti-TNF agents such as etanercept) are second-line agents. Corticosteroids are used in the presence of carditis.


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First_Aid_Step2. Corticosteroids and immunosuppressive medications (methotrexate; anti-TNF agents such as etanercept) are second-line agents. Corticosteroids are used in the presence of carditis. A suppurative infection of the middle ear cavity that is common in children. Up to 75% of children have at least three episodes by the age of two. Common pathogens include S. pneumoniae, nontypable H. inﬂ uenzae, Moraxella catarrhalis, and viruses such as inﬂuenza A, RSV, and parainﬂ uenza virus. Symptoms include ear pain, fever, crying, irritability, difficulty feeding or sleeping, vomiting, and diarrhea. Young children may tug on their ears. Signs on otoscopic exam reveal an erythematous tympanic membrane (TM), bulging or retraction of the TM, loss of TM light reﬂ ex, and ↓ TM mobility (test with an insufﬂ ator bulb). High-dose amoxicillin (80–90 mg/kg/day) × 10 days for empiric therapy. Resistant cases may require amoxicillin/clavulanic acid.


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First_Aid_Step2. High-dose amoxicillin (80–90 mg/kg/day) × 10 days for empiric therapy. Resistant cases may require amoxicillin/clavulanic acid. Complications include TM perforation, mastoiditis, meningitis, cholesteatomas, and chronic otitis media. Recurrent otitis media can cause hearing loss with resultant speech and language delay. Chronic otitis media may require tympanostomy tubes. An acute inﬂammatory illness of the small airways that primarily affects infants and children < 2 years of age, often in the fall or winter months. RSV is the most common cause; others include parainﬂ uenza, inﬂ uenza, and metapneumovirus. Progression to respiratory failure is a potentially fatal complication. For severe RSV, risk factors include age < 6 months, male gender, prematurity, heart or lung disease, and immunodeficiency. Presents with low-grade fever, rhinorrhea, cough, and apnea (in young infants).


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First_Aid_Step2. Presents with low-grade fever, rhinorrhea, cough, and apnea (in young infants). Exam reveals tachypnea, wheezing, intercostal retractions, crackles, prolonged expiration, expiratory wheezing, and hyperresonance to percussion. Predominantly a clinical diagnosis; routine cases do not need blood work or a CXR. CXR may be obtained to rule out pneumonia and may show hyperinﬂ ation of the lungs with ﬂattened diaphragms, interstitial infiltrates, and atelectasis. Nasopharyngeal aspirate to test for RSV is highly sensitive and specific but has little effect on management (infants should be treated for bronchiolitis regardless of whether RSV is or not). Treatment is primarily supportive; treat mild disease with outpatient management using ﬂuids and nebulizers if needed.


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First_Aid_Step2. Treatment is primarily supportive; treat mild disease with outpatient management using ﬂuids and nebulizers if needed. Hospitalize in the setting of marked respiratory distress, O2 saturation of < 92%, toxic appearance, dehydration/poor oral feeding, a history of prematurity (< 34 weeks), age < 3 months, underlying cardiopulmonary disease, or unreliable parents. Treat inpatients with contact isolation, hydration, and O2. A trial of aerosolized albuterol may be attempted; continue albuterol therapy only if effective. RSV is the most common cause of bronchiolitis. Ribavirin is an antiviral drug that has a controversial role in bronchiolitis treatment. It is sometimes used in high-risk infants with underlying heart, lung, or immune disease. RSV prophylaxis with injectable polyor monoclonal antibodies (RespiGam or Synagis) is recommended in winter for high-risk patients ≤ 2 years of age (e.g., those with a history of prematurity, chronic lung disease, or congenital heart disease).


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First_Aid_Step2. An acute viral inﬂammatory disease of the larynx, primarily within the subglottic space. Pathogens include parainf uenza virus type 1 (most common), 2, and 3; RSV; inﬂuenza; and adenovirus. Bacterial superinfection may progress to tracheitis. Prodromal URI symptoms are typically followed by low-grade fever, mild dyspnea, inspiratory stridor that worsens with agitation, a hoarse voice, and a characteristic barking cough (usually at night). Diagnosed by clinical impression; often based on the degree of stridor and respiratory distress. AP neck film may show the classic “steeple sign” from subglottic narrowing (see Figure 2.13-2), but the finding is neither sensitive nor specif c. Table 2.13-5 differentiates croup from epiglottitis and tracheitis. FIGURE 2.13-2. Croup.


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First_Aid_Step2. Table 2.13-5 differentiates croup from epiglottitis and tracheitis. FIGURE 2.13-2. Croup. The x-ray shows marked subglottic narrowing of the airway (“steeple sign”). (Reproduced, with permission, from Saunders CE. Current Emergency Diagnosis & Treatment, 4th ed. Stamford, CT: Appleton & Lange, 1992: 448.) T AB LE 2.1 3-5. Characteristics of Croup, Epiglottitis, and Tracheitis


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First_Aid_Step2. T AB LE 2.1 3-5. Characteristics of Croup, Epiglottitis, and Tracheitis Age group affected 3 months to 3 years 3–7 years 3 months to 2 years Incidence in children presenting with stridor 88% 8% 2% Pathogen Parainf uenza virus H. inﬂ uenzae Often S. aureus Onset Prodrome (1–7 days) Rapid (4–12 hours) Prodrome (3 days) leading to acute decompensation (10 hours) Fever severity Low grade High grade Intermediate grade Associated symptoms Barking cough, hoarseness Muffed voice, drooling Variable respiratory distress Position preference None Seated, neck extended None Response to racemic epinephrine Stridor improves None None CXR fndings “Steeple sign” on AP flm “Thumbprint sign”’ on lateral f lm Subglottic narrowing Mild cases: Outpatient management with cool mist therapy and ﬂ uids. Moderate cases: May require supplemental O2, oral and IM corticosteroids, and nebulized racemic epinephrine.


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First_Aid_Step2. Mild cases: Outpatient management with cool mist therapy and ﬂ uids. Moderate cases: May require supplemental O2, oral and IM corticosteroids, and nebulized racemic epinephrine. Severe cases (e.g., respiratory distress at rest, inspiratory stridor): Hospitalize and give nebulized racemic epinephrine. A serious and rapidly progressive infection of supraglottic structures (e.g., the epiglottis and aryepiglottic folds). Prior to immunization, H. inﬂ uenzae type b was the 1° pathogen. Common causes now include Streptococcus species, Epiglottitis can lead to nontypable H. inﬂ uenzae, and viral agents. obstruction. Presents with acute-onset high fever (39–40°C), dysphagia, drooling, a mufﬂed voice, inspiratory retractions, cyanosis, and soft stridor. Patients sit with the neck hyperextended and the chin protruding (“sniffing dog” position) and lean forward in a “tripod” position to maximize air entry.


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First_Aid_Step2. Patients sit with the neck hyperextended and the chin protruding (“sniffing dog” position) and lean forward in a “tripod” position to maximize air entry. Untreated infection can lead to life-threatening airway obstruction and respiratory arrest. Diagnosed by clinical impression. The differential diagnosis must include diffuse and localized causes of airway obstruction (see Tables 2.13-5 and 2.13-6). The airway must be secured before def nitive diagnosis. In light of potential laryngospasm and airway compromise, do not examine the throat unless an anesthesiologist or otolaryngologist is present. Definitive diagnosis is made via direct fiberoptic visualization of a cherry-red, swollen epiglottis and arytenoids. Lateral x-ray shows a swollen epiglottis obliterating the valleculae (“thumbprint sign”; see Figure 2.13-3). This disease is a true emergency. Keep the patient (and parents) calm, call anesthesia, and transfer the patient to the OR.


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First_Aid_Step2. This disease is a true emergency. Keep the patient (and parents) calm, call anesthesia, and transfer the patient to the OR. Treat with endotracheal intubation or tracheostomy and IV antibiotics (ceftriaxone or cefuroxime). Bacterial meningitis most often occurs in children < 3 years of age; common organisms include S. pneumoniae, N. meningitidis, and E. coli. Enteroviruses are the most common agents of viral meningitis and occur in children of all ages. Risk factors include sinofacial infections, trauma, and sepsis. ■Bacterial meningitis classically presents with the triad of headache, high fever, and nuchal rigidity. T AB LE 2.1 3-6. Comparison of Retropharyngeal Abscess and Peritonsillar Abscess


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First_Aid_Step2. Age group affected Six months to six years. Usually > 10 years of age. History/PE Muffed “hot potato” voice; trismus; drooling; cervical lymphadenopathy. Usually unilateral; may see mass in the posterior pharyngeal wall on visual inspection. Muffed “hot potato” voice; trismus; drooling; displacement of the affected tonsil medially and laterally. Pathogen Group A streptococcus (most common); S. aureus; Bacteroides. Group A streptococcus (most common); S. aureus; S. pneumoniae; anaerobes. Preferred position Supine with the neck extended (sitting up or fexing the neck worsens symptoms). None. Diagnosis On lateral neck x-ray, the soft tissue plane should be ≤ 50% of the width of the corresponding vertebral body. Contrast CT of the neck helps differentiate abscess from cellulitis. Usually clinical. Treatment Aspiration or incision and drainage of abscess; antibiotics. Incision and drainage +/− tonsillectomy; antibiotics. FIGURE 2.13-3. Epiglottitis.


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First_Aid_Step2. FIGURE 2.13-3. Epiglottitis. The classic swollen epiglottis (“thumbprint sign”; arrow) and obstructed airway are seen on lateral neck x-ray. (Reproduced, with permission, from Saunders CE. Current Emergency Diag nosis & Treatment, 4th ed. Stamford, CT: Appleton & Lange, 1992: 447.) Viral meningitis is typically preceded by a prodromal illness that includes fever, sore throat, and fatigue. Kernig’s sign (pain on knee extension when the hip is ﬂexed) and Brudzinski’s sign (pain with passive neck ﬂexion) are nonspecific signs of meningeal irritation. Additional physical exam findings may include signs of ↑ ICP (papilledema, cranial nerve palsies) or petechial rash (N. meningitidis). Signs in neonates include lethargy, hyperor hypothermia, poor tone, a bulging fontanelle, and vomiting. Head CT to rule out ↑ ICP (risk of brain stem herniation). Perform an LP; send cell count with differential, glucose and protein levels, Gram stain, and culture.


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First_Aid_Step2. Head CT to rule out ↑ ICP (risk of brain stem herniation). Perform an LP; send cell count with differential, glucose and protein levels, Gram stain, and culture. Empiric antibiotic therapy regimens (ceftriaxone, vancomycin, ampicillin) should be administered until bacterial meningitis can be excluded. Neonates should receive ampicillin and cefotaxime or gentamicin. Consider acyclovir if there is concern for herpes encephalitis (e.g., if the mother had HSV lesions at the time of the infant’s birth). Older children should receive ceftriaxone and vancomycin. A bacterial infection caused by Bordetella pertussis (whooping cough), a grambacillus. The DTaP vaccine (given in five doses in early childhood) is protective, but immunity wanes by adolescence. Adolescents and young adults serve as the primary reservoir for pertussis. Pertussis can be life threatening for young infants but is generally a milder infection in older children and adults.


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First_Aid_Step2. Has three stages: (1) catarrhal (mild URI symptoms; lasts 1–2 weeks), (2) paroxysmal (paroxysms of cough with inspiratory whoop and post-tussive emesis; lasts 2–3 months), and (3) convalescent (symptoms wane). Patients most often present in the paroxysmal stage but are most contagious in the catarrhal stage. The classic presentation is an infant < 6 months of age with post-tussive emesis and apnea. Labs show an elevated WBC count with lymphocytosis (often ≥ 70%). Culture is the gold standard. Hospitalize infants < 6 months of age. Give erythromycin × 14 days to patients and close contacts (including day care contacts). Patients should not return to school or day care until five days of antibiotics have been administered or until three weeks have elapsed if no therapy has been initiated. Table 2.13-7 outlines the clinical presentation of common viral exanthems. TABLE 2.13-7. Viral Exanthems


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First_Aid_Step2. Erythema infectiosum (f fth disease) Parvovirus B19 Prodrome: None; fever is often absent or low grade. Rash: “Slapped-cheek,” erythematous rash. An erythematous, pruritic, maculopapular rash starts on the arms and spreads to the trunk and legs. Worsens with fever and sun exposure. Arthritis, hemolytic anemia, encephalopathy. Congenital infection is associated with fetal hydrops and death. Aplastic crisis may be precipitated in children with ↑ RBC turnover (e.g., sickle cell anemia, hereditary spherocytosis) or in those with ↓ RBC production (e.g., severe iron def ciency anemia). Measles Paramyxovirus Prodrome: Low-grade fever with Cough, Coryza, and Conjunctivitis (the “3 C’s”); Koplik’s spots (small irregular red spots with central gray specks) appear on the buccal mucosa after 1–2 days. Rash: An erythematous maculopapular rash spreads from the head toward the feet. Common: Otitis media, pneumonia, laryngotracheitis. Rare: Subacute sclerosing panencephalitis.


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First_Aid_Step2. TABLE 2.13-7. Viral Exanthems (continued)


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First_Aid_Step2. Rubella Rubella virus Prodrome: Asymptomatic or tender, generalized lymphadenopathy. Rash: Presents with an erythematous, tender maculopapular rash that also starts on the face and spreads distally. In contrast to measles, children with rubella often have only a low-grade fever and do not appear as ill. Polyarthritis may be seen in adolescents. Encephalitis, thrombocytopenia (a rare complication of postnatal infection). Congenital infection is associated with congenital anomalies. Roseola infantum HHV-6 Prodrome: Acute onset of high fever (> 40°C); no other symptoms for 3–4 days. Rash: A maculopapular rash appears as fever breaks (begins on the trunk and quickly spreads to the face and extremities) and often lasts < 24 hours. Febrile seizures may occur as a result of rapid fever onset. Varicella Varicella-zoster virus (VZV) Prodrome: Mild fever, anorexia, and malaise precede the rash by 24 hours. Rash: Generalized, pruritic, “teardrop” vesicular periphery; lesions are often at


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First_Aid_Step2. Varicella Varicella-zoster virus (VZV) Prodrome: Mild fever, anorexia, and malaise precede the rash by 24 hours. Rash: Generalized, pruritic, “teardrop” vesicular periphery; lesions are often at different stages of healing. Infectious from 24 hours before eruption until lesions crust over. Progressive varicella with meningoencephalitis and hepatitis occurs in immunocompromised children. Congenital infection is associated with congenital anomalies. Varicella zoster VZV Prodrome: Reactivation of varicella infection; starts as pain along an affected sensory nerve. Rash: Pruritic “teardrop” vesicular rash in a dermatomal distribution. Uncommon unless the patient is immunocompromised. Encephalopathy, aseptic meningitis, pneumonitis, TTP, Guillain-Barré syndrome, cellulitis, arthritis. Hand-foot-and-mouth disease Coxsackie A Prodrome: Fever, anorexia, oral pain. Rash: Oral ulcers; maculopapular vesicular rash on the hands and feet and sometimes on the buttocks. None (self-limited).


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First_Aid_Step2. APGAR (0, 1, 2 in each category) Appearance (blue/pale, pink trunk, all pink) Pulse (0, < 100, > 100) Grimace with stimulation (0, grimace, grimace and cough) Activity (limp, some, active) Respiratory effort (0, irregular, regular) Direct hyperbilirubinemia is always pathologic. A rapid scoring system that helps evaluate the need for neonatal resuscitation. Each of five parameters (see the mnemonic APGAR) is assigned a score of 0–2 at one and five minutes after birth. Scores of 8–10: Typically reﬂect good cardiopulmonary adaptation. Scores of 4–7: Indicate the possible need for resuscitation. Infants should be observed, stimulated, and possibly given ventilatory support. Scores of 0–3: Indicate the need for immediate resuscitation. Table 2.13-8 describes selected congenital malformations. An elevated serum bilirubin concentration (> 5 mg/dL) due to ↑ hemolysis or ↓ excretion. Subtypes are as follows: Conjugated (direct) hyperbilirubinemia: Always pathologic.


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First_Aid_Step2. An elevated serum bilirubin concentration (> 5 mg/dL) due to ↑ hemolysis or ↓ excretion. Subtypes are as follows: Conjugated (direct) hyperbilirubinemia: Always pathologic. Unconjugated (indirect) hyperbilirubinemia: May be physiologic or pathologic. See Table 2.13-9 for differentiating characteristics. Kernicterus: A complication of unconjugated hyperbilirubinemia that results from irreversible bilirubin deposition in the basal ganglia, pons, and cerebellum. It typically occurs at levels of > 25–30 mg/dL and can be fatal. Risk factors include prematurity, asphyxia, and sepsis. The differential includes the following: Conjugated: Extrahepatic cholestasis (biliary atresia, choledochal cysts), intrahepatic cholestasis (neonatal hepatitis, inborn errors of metabolism, TPN cholestasis), Dubin-Johnson syndrome, Rotor’s syndrome, TORCH infections (see the Infectious Disease chapter).


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First_Aid_Step2. Unconjugated: Physiologic jaundice, hemolysis, breast milk jaundice, ↑ enterohepatic circulation (e.g., GI obstruction), disorders of bilirubin metabolism, hemolysis, sepsis, Crigler-Najjar syndrome, Gilbert’s syndrome. The history should focus on diet (breast milk or formula), intrauterine drug exposure, and family history (hemoglobinopathies, enzyme deficiencies, RBC defects). Physical exam may reveal signs of hepatic or GI dysfunction (abdominal distention, delayed passage of meconium, light-colored stools, dark urine), infection, or hemoglobinopathies (cephalohematomas, bruising, pallor, petechiae, and hepatomegaly). Kernicterus presents with lethargy, poor feeding, a high-pitched cry, hypertonicity, and seizures; jaundice may follow a cephalopedal progression as bilirubin concentrations ↑. CBC with peripheral blood smear; blood typing of mother and infant (for ABO or Rh incompatibility); Coombs’ test and bilirubin levels.


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First_Aid_Step2. CBC with peripheral blood smear; blood typing of mother and infant (for ABO or Rh incompatibility); Coombs’ test and bilirubin levels. Ultrasound and/or HIDA scan can confirm suspected cholestatic disease. T AB LE 2.1 3-8. Selected Congenital Malformations


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First_Aid_Step2. Tracheoesophageal f stula Tract between the trachea and esophagus. Associated with defects such as esophageal atresia and VACTERL (Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, Limb) anomalies. Presentation: Polyhydramnios in utero, ↑ oral secretions, inability to feed, gagging, aspiration pneumonia, respiratory distress. Diagnosis: CXR showing an NG tube coiled in the esophagus identifes esophageal atresia. The presence of air in the GI tract is suggestive; confrm with bronchoscopy. Treatment: Surgical repair. Congenital diaphragmatic hernia GI tract segments protrude through the diaphragm into the thorax; 90% are posterior left (Bochdalek). Presentation: Respiratory distress (from pulmonary hypoplasia and pulmonary hypertension); sunken abdomen; bowel sounds over the left hemithorax. Diagnosis: Ultrasound in utero; confrmed by postnatal CXR. Treatment: High-frequency ventilation or extracorporeal membrane oxygenation to manage pulmonary hypertension; surgical repair.


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First_Aid_Step2. hemithorax. Diagnosis: Ultrasound in utero; confrmed by postnatal CXR. Treatment: High-frequency ventilation or extracorporeal membrane oxygenation to manage pulmonary hypertension; surgical repair. Gastroschisis Herniation of the intestine only through the abdominal wall next to the umbilicus (usually on the right) with no sac. Presentation: Polyhydramnios in utero; often premature; associated with GI stenoses or atresia. Treatment: A surgical emergency! Single-stage closure is possible in only 10% of cases. Omphalocele Herniation of abdominal viscera through the abdominal wall at the umbilicus into a sac covered by peritoneum and amniotic membrane. Presentation/diagnosis: Polyhydramnios in utero; often premature; associated with other GI and cardiac defects. Seen in Beckwith-Wiedemann syndrome and trisomies. Treatment: C-section can prevent sac rupture; if the sac is intact, postpone surgical correction until the patient is fully resuscitated. Keep the sac covered/stable with


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First_Aid_Step2. syndrome and trisomies. Treatment: C-section can prevent sac rupture; if the sac is intact, postpone surgical correction until the patient is fully resuscitated. Keep the sac covered/stable with petroleum and gauze. Intermittent NG suction to prevent abdominal distention. Duodenal atresia Complete or partial failure of the duodenal lumen to recanalize during gestational weeks 8–10. Presentation: Polyhydramnios in utero; bilious emesis within hours after frst feeding; associated with Down syndrome and other cardiac/GI anomalies (e.g., annular pancreas, malrotation, imperforate anus). Diagnosis: Abdominal radiographs show the “double-bubble” sign (air bubbles in the stomach and duodenum) proximal to the site of the atresia. Treatment: Surgical repair.


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First_Aid_Step2. For direct hyperbilirubinemia, check LFTs, bile acids, blood cultures, sweat test, and tests for aminoacidopathies and α1-antitrypsin deficiency. A jaundiced neonate who is febrile, hypotensive, and/or tachypneic needs a full sepsis workup and ICU monitoring. Treat underlying causes (e.g., infection). Treat unconjugated hyperbilirubinemia with phototherapy (for mild elevations) or exchange transfusion (for severe elevations > 20 mg/dL). Start T AB LE 2.1 3-9. Physiologic vs. Pathologic Jaundice RDS is the most common cause of respiratory failure in preterm infants. An L/S ratio < 2:1 indicates a need for maternal glucocorticoid administration.


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First_Aid_Step2. RDS is the most common cause of respiratory failure in preterm infants. An L/S ratio < 2:1 indicates a need for maternal glucocorticoid administration. Not present until 72 hours after birth. Present in the frst 24 hours of life. Bilirubin ↑ < 5 mg/dL/day. Bilirubin ↑ > 0.5 mg/dL/hour. Bilirubin peaks at < 14–15 mg/dL. Bilirubin ↑ to > 15 mg/dL. Direct bilirubin is < 10% of total. Direct bilirubin is > 10% of total. Resolves by one week in term infants and two weeks in preterm infants. Persists beyond one week in term infants and two weeks in preterm infants. phototherapy earlier (10–15 mg/dL) for preterm infants. Phototherapy with conjugated hyperbilirubinemia can lead to skin bronzing.


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First_Aid_Step2. phototherapy earlier (10–15 mg/dL) for preterm infants. Phototherapy with conjugated hyperbilirubinemia can lead to skin bronzing. The most common cause of respiratory failure in preterm infants (affects > 70% of infants born at 28–30 weeks’ gestation); formerly known as hyaline membrane disease. Surfactant def ciency leads to poor lung compliance, alveolar collapse, and atelectasis. Risk factors include maternal DM, male gender, and the second born of twins. Presents in the first 48–72 hours of life with a respiratory rate > 60/min, progressive hypoxemia, cyanosis, nasal ﬂaring, intercostal retractions, and expiratory grunting. Check ABGs, CBC, and blood cultures to rule out infection. Diagnosis is based mainly on characteristic CXR findings: RDS: “Ground-glass” appearance, diffuse atelectasis, and air bronchograms on CXR. Transient tachypnea of the newborn: Retained amniotic ﬂ uid results in prominent perihilar streaking in interlobular fissures.


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First_Aid_Step2. Transient tachypnea of the newborn: Retained amniotic ﬂ uid results in prominent perihilar streaking in interlobular fissures. Meconium aspiration: Coarse, irregular infiltrates; hyperexpansion and pneumothoraces. Congenital pneumonia: Nonspecific patchy infiltrates; neutropenia, tracheal aspirate, and Gram stain suggest the diagnosis. Continuous positive airway pressure (CPAP) or intubation and mechanical ventilation. Artificial surfactant administration ↓ mortality. Pretreat mothers at risk for preterm delivery (< 30 weeks’ gestation) with corticosteroids; if > 30 weeks, monitor fetal lung maturity via a lecithin-to-sphingomyelin (L/S) ratio and the presence of phosphatidylglycerol in amniotic ﬂ uid. Persistent PDA, bronchopulmonary dysplasia, retinopathy of prematurity, barotrauma from positive pressure ventilation, intraventricular hemorrhage, and NEC are complications of treatment.


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First_Aid_Step2. Persistent PDA, bronchopulmonary dysplasia, retinopathy of prematurity, barotrauma from positive pressure ventilation, intraventricular hemorrhage, and NEC are complications of treatment. A range of nonhereditary, nonprogressive disorders of movement and posture; the most common movement disorder in children. Often results from perinatal neurologic insult, but in most cases the cause is unknown. Risk factors include low birth weight, intrauterine exposure to maternal infection, prematurity, perinatal asphyxia, trauma, brain malformation, and neonatal cerebral hemorrhage. Categories include the following: Pyramidal (spastic): Spastic paresis of any or all limbs. Accounts for 75% of cases. Mental retardation is present in up to 90% of cases.


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First_Aid_Step2. Pyramidal (spastic): Spastic paresis of any or all limbs. Accounts for 75% of cases. Mental retardation is present in up to 90% of cases. Extrapyramidal (dyskinetic): A result of damage to extrapyramidal tracts. Subtypes are ataxic (difficulty coordinating purposeful movements), choreoathetoid, and dystonic (uncontrollable jerking, writhing, or posturing). Abnormal movements worsen with stress and disappear during sleep. May be associated with seizure disorders, behavioral disorders, hearing or vision impairment, learning disabilities, and speech deficits. Affected limbs may show hyperreﬂexia, pathologic reﬂexes (e.g., Babinski), ↑ tone/contractures, weakness, and/or underdevelopment. ■Toe walking and scissor gait are common. Hip dislocations and scoliosis may be seen.


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First_Aid_Step2. ■Toe walking and scissor gait are common. Hip dislocations and scoliosis may be seen. Diagnosed by clinical impression. Ultrasound or CT may be useful in infants to identify intracranial hemorrhage or structural malformations. MRI is diagnostic in older children. EEG may be useful in patients with seizures. There is no cure for cerebral palsy. Special education, physical therapy, braces, and surgical release of contractures may help. Treat spasticity with diazepam, dantrolene, or baclofen. Baclofen pumps and posterior rhizotomy may alleviate severe contractures. Usually occur in children between six months and five years of age who have no evidence of intracranial infection or other causes. Risk factors include a rapid ↑ in temperature and a history of febrile seizures in a close relative. Febrile seizures recur in 30% of patients. ■Seizures usually occur during the onset of fever and may be the first sign of an underlying illness (e.g., otitis media, roseola).


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First_Aid_Step2. ■Seizures usually occur during the onset of fever and may be the first sign of an underlying illness (e.g., otitis media, roseola). The most common presenting symptom of cerebral palsy is delayed motor development. Perform an LP if CNS infection is suspected in a patient with a febrile seizure. Simple febrile seizures do not cause brain damage, usually do not recur, and do not lead to an ↑ risk of epilepsy. ALL is the most common childhood malignancy, followed by CNS tumors and lymphomas. ■ Classified as simple or complex: Simple: A short-duration (< 15-minute), generalized seizure with one seizure in a 24-hour period. High fever (> 39°C) and fever onset within hours of the seizure are typical. Complex: A long-duration (> 15-minute) or focal seizure, or multiple seizures in a 24-hour period. Low-grade fever for several days before seizure onset may be present.


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First_Aid_Step2. Complex: A long-duration (> 15-minute) or focal seizure, or multiple seizures in a 24-hour period. Low-grade fever for several days before seizure onset may be present. Focus on finding a source of infection. LP is indicated if there are clinical signs of CNS infection (e.g., altered consciousness, meningismus, a tense/ bulging anterior fontanelle) after ruling out ↑ ICP. No lab studies are needed if presentation is consistent with febrile seizures in children > 18 months of age. Infants < 12 months of age need a sepsis workup (CBC, UA, and blood, urine, and CSF culture). For atypical presentations, obtain electrolytes, serum glucose, blood cultures, UA, and CBC with differential. Use antipyretic therapy (acetaminophen; avoid ASA in light of the risk of Reye’s syndrome) and treat any underlying illness. Note that antipyretic therapy does not ↓ the recurrence of febrile seizures.


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First_Aid_Step2. For complex seizures, perform a thorough neurologic evaluation, including an EEG and MRI. Chronic anticonvulsant therapy (e.g., diazepam or phenobarbital) may be necessary. The risk of recurrence is < 30% and is highest within one year of the initial episode. For simple febrile seizures, there is no ↑ risk of developmental abnormalities or epilepsy. Risk factors for the development of epilepsy include complex febrile seizures (~10% risk), a family history of epilepsy, and an abnormal neurologic exam or developmental delay. A hematopoietic malignancy of lymphocytic or myeloblastic origin. The most common childhood malignancy; 97% of cases are acute leukemias (ALL > AML). ALL is most common in male Caucasian children between two and five years of age; AML is seen most frequently in male African-American children throughout childhood. Associated with trisomy 21, Fanconi’s anemia, prior radiation, severe combined immunodeficiency, and congenital bone marrow failure states.


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First_Aid_Step2. Symptoms are abrupt in onset. They are initially nonspecific (anorexia, fatigue) and are followed by bone pain with refusal to bear weight, fever (from neutropenia), anemia, ecchymoses, petechiae, and/or hepatosplenomegaly. CNS metastases may be associated with headache, vomiting, and papilledema. ■AML can present with a chloroma, a greenish soft-tissue tumor on the skin or spinal cord. CBC, coagulation studies, and peripheral blood smear (high numbers of blast cells). Peripheral smears show lymphoblasts in 90% of cases. WBC counts can be low, normal, or high. Obtain a bone marrow aspirate for immunophenotyping (TdT assay and a panel of monoclonal antibodies to Tand B-cell antigens) and genetic analysis, which help confirm the diagnosis. CXR to rule out a mediastinal mass. Chemotherapy based, including induction, consolidation, and maintenance phases.


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First_Aid_Step2. CXR to rule out a mediastinal mass. Chemotherapy based, including induction, consolidation, and maintenance phases. Tumor lysis syndrome (hyperkalemia, hyperphosphatemia, hyperuricemia) is common prior to and during the initiation of treatment. Treat with ﬂ u-ids, diuretics, allopurinol, urine alkalinization, and reduction of phosphate syndrome at the onset of any intake. chemotherapy regimen. An embryonal tumor of neural crest origin. More than half of patients are < 2 years of age, and 70% of patients have distant metastases at presentation. Associated with neurofibromatosis, Hirschsprung’s disease, and the N-myc oncogene. Lesion sites are most commonly abdominal, thoracic, and cervical (in descending order). Symptoms may vary with location and may include a nontender abdominal mass (may cross the midline), Horner’s syndrome, hypertension, or cord compression (from a paraspinal tumor). Patients may have anemia, FTT, and fever.


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First_Aid_Step2. Patients may have anemia, FTT, and fever. More than 50% of patients will have metastases at diagnosis. Signs include bone marrow suppression, proptosis, hepatomegaly, subcutaneous nodules, and opsoclonus/myoclonus. CT scan; fine-needle aspirate of tumor. Histologically appears as small, round, blue tumor cells with a characteristic rosette pattern. Elevated 24-hour urinary catecholamines (VMA and HVA). Bone scan and bone marrow aspirate. CBC, LFTs, coagulation panel, BUN/creatinine. Local excision plus postsurgical chemotherapy and/or radiation. Wilms’ tumor is associated A renal tumor of embryonal origin that is most commonly seen in children 2–5 years of age. Associated with Beckwith-Wiedemann syndrome (hemihy-hemihypertrophy. pertrophy, macroglossia, visceromegaly), neurofibromatosis, and WAGR syndrome (Wilms’, Aniridia, Genitourinary abnormalities, mental Retardation). Presents as an asymptomatic, nontender, smooth abdominal mass.


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First_Aid_Step2. Presents as an asymptomatic, nontender, smooth abdominal mass. Abdominal pain, fever, hypertension, and microscopic or gross hematuria are seen. CBC, BUN, creatinine, and UA. Abdominal ultrasound. CT scans of the chest and abdomen are used to detect metastases. Local resection and nephrectomy with postsurgical chemotherapy and radiation depending on stage and histology. It is critical to distinguish between Ewing’s sarcoma and osteosarcoma (see Table 2.13-10). An important aspect of every well-child visit. Commonly tested advice includes the following: T AB LE 2.1 3-1 0. Ewing’s Sarcoma vs. Osteosarcoma


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First_Aid_Step2. An important aspect of every well-child visit. Commonly tested advice includes the following: T AB LE 2.1 3-1 0. Ewing’s Sarcoma vs. Osteosarcoma Sarcoma (neuroectoderm); associated with chromosome 11:22 translocation. Osteoblasts (mesenchyme). Commonly seen in Caucasian male adolescents. Commonly seen in male adolescents. History/PE Local pain and swelling. Systemic symptoms (fever, anorexia, fatigue) are common. Local pain and swelling. Systemic symptoms are rare. Location Midshaft of long bones (femur, pelvis, f bula, humerus). Metaphyses of long bones (distal femur, proximal tibia, proximal humerus). Metastases to lungs in 20%. Leukocytosis, ↑ ESR. Lytic bone lesion with “onion skin” periosteal reaction on plain x-ray. ↑ alkaline phosphatase. “Sunburst” lytic bone lesions. Chest CT to rule out pulmonary metastases. Local excision, chemotherapy, and radiation. Local excision, chemotherapy. Origin Epidemiology Diagnosis Treatment Keep the water heater at < 48.8°C (< 120ºF).


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First_Aid_Step2. Keep the water heater at < 48.8°C (< 120ºF). Babies should sleep on their backs without any stuffed animals or other toys in the crib (to ↓ the risk of SIDS). Car safety seats should be rear facing and should be placed in the back of the car (seats can face forward if the child is > 1 year of age and weighs > 20 lbs). No solid foods should be given prior to six months; they should then be introduced gradually and one at a time. Do not give cow’s milk prior to 12 months. Syrup of ipecac (an emetic) is no longer routinely recommended for accidental poisoning. Poison control should be contacted immediately for assistance. Objective hearing screening (otoacoustic emissions and/or auditory brain stem response) for newborns prior to discharge is common. Objective hearing screening is indicated for children with a history of meningitis, TORCH infections, measles and mumps, and recurrent otitis media or chronic middle ear infections.


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First_Aid_Step2. Objective hearing screening is indicated for children with a history of meningitis, TORCH infections, measles and mumps, and recurrent otitis media or chronic middle ear infections. The red reﬂex should be checked at birth. Leukocoria is the lack of a red reﬂ ex. Strabismus (ocular misalignment) is normal until three months of age; beyond three months, children should be evaluated by a pediatric ophthalmologist and may require corrective lenses, occlusion, and/or surgery to prevent amblyopia (suppression of retinal images in a misaligned eye, leading to permanent vision loss). The Epidemiology chapter summarizes CDC-recommended vaccinations for the pediatric population. Contraindications and precautions in this population are as follows: Contraindications: Severe allergy to a vaccine component or a prior dose of vaccine. Patients who are allergic to eggs may not receive MMR or inﬂ uenza vaccine. Encephalopathy within seven days of prior pertussis vaccination.


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First_Aid_Step2. Encephalopathy within seven days of prior pertussis vaccination. Avoid live vaccines (oral polio vaccine, varicella, MMR) in immunocompromised and pregnant patients (exception: HIV patients may receive MMR and varicella). Precautions: Current moderate to severe illness (with or without fever). Prior reactions to pertussis vaccine (fever > 40.5°C, shocklike state, persistent crying for > 3 hours within 48 hours of vaccination, or seizure within three days of vaccination). A history of receiving IVIG in the past year. The following are not contraindications to vaccination: Mild illness and/or low-grade fever. Current antibiotic therapy. Prematurity. Pneumococcal polysaccharide vaccine (PPV) should be administered to high-risk groups (sickle cell disease or splenectomy, immunodeficient). Leukocoria indicates retinoblastoma, congenital cataracts, or retinopathy of prematurity.


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First_Aid_Step2. Leukocoria indicates retinoblastoma, congenital cataracts, or retinopathy of prematurity. New evidence has shown impaired intelligence and neurodevelopmental outcomes among children exposed to lead levels as low as 10 μg/dL. Most exposure in children is due to lead-contaminated household dust from leaded paint. Screening should be routinely performed at 12 and 24 months for patients living in high-risk areas (pre-1950s homes or zip codes with high percentages of elevated blood lead levels). Presents with irritability, hyperactivity or apathy, anorexia, intermittent abdominal pain, constipation, intermittent vomiting, and peripheral neuropathy (wrist or foot drop). Acute encephalopathy (usually with levels > 70 μg/dL) is characterized by ↑ ICP, vomiting, confusion, seizures, and coma. Blood lead level. CBC and peripheral blood smear show microcytic, hypochromic anemia and basophilic stippling. < 45 μg/dL and asymptomatic: Retest at 1–3 months; remove sources of lead exposure.


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First_Aid_Step2. Blood lead level. CBC and peripheral blood smear show microcytic, hypochromic anemia and basophilic stippling. < 45 μg/dL and asymptomatic: Retest at 1–3 months; remove sources of lead exposure. 45–69 μg/dL: Chelation therapy (inpatient EDTA or outpatient oral succimer [DMSA]). ≥ 70 μg/dL: Chelation therapy (inpatient EDTA + BAL [IM dimercaprol]). Buspirone is another drug, in addition to SSRIs, that should not be used with MAOIs. Many OCD patients initially present to a nonpsychiatrist— e.g., they may consult a dermatologist with a skin complaint 2° to overwashing hands. Uncontrollable, excessive anxiety or worry about activities or events in life that leads to signifcant impairment or distress. The male-to-female ratio is 1:2; clinical onset is usually in the early 20s. Hx/PE: Presents with anxiety on most days (six or more months) and with three or more somatic symptoms (restlessness, fatigue, diff culty concentrating, irritability, muscle tension, disturbed sleep). Tx:


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First_Aid_Step2. Tx: Lifestyle changes, psychotherapy, medication. SSRIs, venlafaxine, and buspirone are most often used (see Table 2.14-1). Benzodiazepines may be used for immediate symptom relief. Taper benzodiazepines as soon as long-term treatment is initiated (e.g., with SSRIs) in light of the high risk of tolerance and dependence. Do not stop benzodiazepines “cold turkey,” as patients may develop potentially lethal withdrawal symptoms similar to those of alcohol withdrawal. Patient education is essential. Characterized by obsessions and/or compulsions that lead to signif cant distress and dysfunction in social or personal areas. Typically presents in late adolescence or early adulthood; prevalence is equal in males and females. Often a chronic condition that is diff cult to treat.


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First_Aid_Step2. Typically presents in late adolescence or early adulthood; prevalence is equal in males and females. Often a chronic condition that is diff cult to treat. Hx/PE: ■Obsessions: Persistent, unwanted, and intrusive ideas, thoughts, impulses, or images that lead to marked anxiety or distress (e.g., fear of contamination, fear of harm to oneself or to loved ones) and occur despite the patient’s attempts to prevent them. T AB LE 2.1 4-1. Anxiolytic Medications


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First_Aid_Step2. T AB LE 2.1 4-1. Anxiolytic Medications SSRIs (f uoxetine, sertraline, paroxetine, citalopram, escitalopram) First-line treatment for generalized anxiety disorder, OCD, and PTSD. Nausea, GI upset, somnolence, sexual dysfunction, agitation. Buspirone Generalized anxiety disorder, OCD, PTSD. Seizures with chronic use. No tolerance, dependence, or withdrawal. β-blockers Performance anxiety, PTSD. Bradycardia, hypotension. Benzodiazepines Anxiety, insomnia, alcohol withdrawal, muscle spasm, night terrors, sleepwalking. ↓ sleep duration; risk of abuse, tolerance, and dependence; disinhibition in young or old patients; confusion. Flumazenil (competitive antagonist at GABA receptor) Antidote to benzodiazepine intoxication. Resedation; nausea, dizziness, vomiting, and pain at the injection site. Compulsions: Repeated mental acts or behaviors that neutralize anxiety from obsessions (e.g., hand washing, elaborate rituals for ordinary tasks, counting, excessive checking).


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First_Aid_Step2. Compulsions: Repeated mental acts or behaviors that neutralize anxiety from obsessions (e.g., hand washing, elaborate rituals for ordinary tasks, counting, excessive checking). Patients recognize these behaviors as excessive and irrational products of their own minds (vs. obsessive-compulsive personality disorder, or OCPD; see Table 2.14-2). Patients wish they could get rid of the obsessions and/or compulsions. Tx: Pharmacotherapy (SSRIs are frst-line pharmacologic treatment; see Table 2.14-1); cognitive-behavioral therapy (CBT) using exposure and desensitization relaxation techniques. Patient education is imperative. Characterized by recurrent, unexpected panic attacks. Two to three times more common in females than in males. Agoraphobia is present in 30–50% of cases. The average age of onset is 25, but may occur at any age. Hx/PE:


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First_Aid_Step2. Two to three times more common in females than in males. Agoraphobia is present in 30–50% of cases. The average age of onset is 25, but may occur at any age. Hx/PE: Panic attacks are def ned as discrete periods of intense fear or discomfort in which at least four of the following symptoms develop abruptly and peak within 10 minutes: tachypnea, chest pain, palpitations, diaphoresis, nausea, trembling, dizziness, fear of dying or “going crazy,” depersonalization, or hot f ashes. Perioral and/or acral paresthesias, when present, are fairly specif c to panic attacks, which produce hyperventilation and low oxygen saturation. Patients present with one or more months of concern about having additional attacks or signifcant behavior change as a result of the attacks—e.g., avoiding situations that may precipitate attacks. Elucidate if a patient has panic disorder with or without agoraphobia so that agoraphobia can also be addressed in the treatment plan.


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First_Aid_Step2. Elucidate if a patient has panic disorder with or without agoraphobia so that agoraphobia can also be addressed in the treatment plan. The differential should include the following: Medical conditions: Angina, MI, arrhythmias, hyperthyroidism, vitamin B12 def ciency, pheochromocytoma. Psychiatric conditions: Substance-induced anxiety, generalized anxiety disorder, PTSD. Tx: CBT, pharmacotherapy (e.g., SSRIs, TCAs). Benzodiazepines (e.g., clonazepam) may be used for immediate relief, but long-term use should be avoided in light of the potential for addiction and tolerance (see Table 2.14-1). Taper benzodiazepines as soon as long-term treatment is initiated (e.g., SSRIs). Alprazolam (Xanax) is an SSRI that is sometimes used to treat panic disorder, but it has such a short half-life that patients can go into mild withdrawal within a day. TABLE 2.14-2. OCD vs. OCPD


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First_Aid_Step2. Alprazolam (Xanax) is an SSRI that is sometimes used to treat panic disorder, but it has such a short half-life that patients can go into mild withdrawal within a day. TABLE 2.14-2. OCD vs. OCPD Characterized by obsessions and/or compulsions. Patients are excessively conscientious and inf exible. Patients recognize the obsessions/ compulsions and want to be rid of them (ego-dystonic). Patients do not recognize their behavior as problematic (ego-syntonic). Agoraphobia is def ned as fear of being alone in public places. Literally translated, it means “fear of the marketplace.” Top causes of PTSD in males are (1) rape and (2) combat. Top causes in females are (1) childhood abuse and (2) rape. In patients with a history of substance abuse, benzodiazepines should be avoided in view of their high addictive potential. Defned as follows:


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First_Aid_Step2. In patients with a history of substance abuse, benzodiazepines should be avoided in view of their high addictive potential. Defned as follows: Social phobia: Characterized by marked fear provoked by social or performance situations in which embarrassment may occur. It may be specifc (e.g., public speaking, urinating in public) or general (e.g., social interaction) and often begins in adolescence. Specific phobia: Anxiety is provoked by exposure to a feared object or situation (e.g., animals, heights, airplanes). Most cases begin in childhood. Hx/PE: Presents with excessive or unreasonable fear and/or avoidance of an object or situation that is persistent and leads to signifcant distress or impairment in function. A related history of traumatic events or panic attacks may be present. Patients recognize that their fear is excessive. Tx:


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First_Aid_Step2. Tx: Specific phobias: CBT involving desensitization through incremental exposure to the feared object or situation and relaxation techniques. Other options include supportive, family, and insight-oriented psychotherapy. Social phobias: CBT, SSRIs, low-dose benzodiazepines, or β-blockers (for performance anxiety) may be used (see Table 2.14-1). Follows exposure to an extreme, life-threatening traumatic event (e.g., assault, combat, witnessing a violent crime) that evoked intense fear, helplessness, or horror. Hx/PE: Characterized by reexperiencing of the event (e.g., nightmares), avoidance of stimuli associated with the trauma, numbed responsiveness (e.g., detachment, anhedonia), and ↑ arousal (e.g., hypervigilance, exaggerated startle) that lead to signifcant distress or impairment in functioning. Symptoms must persist for > 1 month.


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First_Aid_Step2. Symptoms must persist for > 1 month. Survivor guilt, irritability, poor concentration, amnesia, personality change, sleep disturbance, substance abuse, depression, and suicidality may be present. Some controversy exists regarding the prevalence of PTSD, which some clinicians feel is overdiagnosed. It is therefore prudent to carefully consider other diagnoses in the differential—e.g., major depressive disorder, personality disorder, or adjustment disorder. Tx: SSRIs are frst line; buspirone, TCAs, and MAOIs may be helpful (see Table 2.14-1). Short-term agents targeting anxiety include β-blockers and α2-agonists (e.g., clonidine). Benzodiazepines are also used but should be avoided in light of their addictive potential, as there is a high incidence of substance abuse among individuals with PTSD. Psychotherapy and support groups are useful. Affect memory, orientation, judgment, and attention.


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First_Aid_Step2. Psychotherapy and support groups are useful. Affect memory, orientation, judgment, and attention. An impairment in cognitive functioning with global deficits. Level of consciousness is stable. Prevalence is highest among those > 85 years of age. The course is persistent and progressive. The most common causes are Alzheimer’s disease (50%) and multi-infarct dementia (25%). Other causes are outlined in the mnemonic DEMENTIAS. Diagnostic criteria include memory impairment and one or more of the following: Aphasia: Language impairment. Apraxia: Inability to perform motor activities. Agnosia: Inability to recognize previously known objects. Impaired executive function (problems with planning, organizing, and abstracting) in the presence of a clear sensorium. Personality, mood, and behavior changes are common (e.g., wandering and aggression). A careful history and physical are critical. Serial mini-mental status exams should be performed.


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First_Aid_Step2. Personality, mood, and behavior changes are common (e.g., wandering and aggression). A careful history and physical are critical. Serial mini-mental status exams should be performed. Rule out treatable causes of dementia; obtain CBC, RPR, CMP, TFTs, HIV, B12/folate, ESR, UA, and a head CT or MRI. n Table 2.14-3 outlines key characteristics distinguishing dementia from delirium. TABLE 2.14-3. Delirium vs. Dementia Causes of dementia— Degenerative diseases (Parkinson’s, Huntington’s) Endocrine (thyroid, parathyroid, pituitary, adrenal) Metabolic (alcohol, electrolytes, vitamin B12 def ciency, glucose, hepatic, renal, Wilson’s disease) Exogenous (heavy metals, carbon monoxide, drugs) Infection (meningitis, encephalitis, endocarditis, syphilis, HIV, prion diseases, Lyme disease) Stroke/Structure (vascular dementia, ischemia, vasculitis, normal pressure hydrocephalus)


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First_Aid_Step2. Infection (meningitis, encephalitis, endocarditis, syphilis, HIV, prion diseases, Lyme disease) Stroke/Structure (vascular dementia, ischemia, vasculitis, normal pressure hydrocephalus) Level of attention Impaired (f uctuating). Usually alert. Onset Acute. Gradual. Course Fluctuating from hour to hour. Progressive deterioration. Consciousness Clouded. Intact. Hallucinations Present (often visual or tactile). Occur in approximately 30% of patients in highly advanced disease. Prognosis Reversible. Largely irreversible, but up to 15% of cases are due to treatable causes and are reversible. Major causes of delirium— It is common for delirium to be superimposed on dementia. MDEs can be present in major depressive disorder or in bipolar disorder types I and II. Provide environmental cues and a rigid structure for the patient’s daily life.


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First_Aid_Step2. MDEs can be present in major depressive disorder or in bipolar disorder types I and II. Provide environmental cues and a rigid structure for the patient’s daily life. Cholinesterase inhibitors are used to treat. Low-dose antipsychotics may be used for agitation. Avoid benzodiazepines, which may worsen disinhibition and confusion. Family, caregiver, and patient education and support are imperative. An acute disturbance of consciousness with altered cognition that develops over a short period of time (usually hours to days). Children, the elderly, and hospitalized patients (e.g., ICU psychosis) are particularly susceptible. Major causes are outlined in the mnemonic I WATCH DEATH. Symptoms are potentially reversible if the underlying cause can be treated. Presents with acute onset of waxing and waning consciousness with lucid intervals and perceptual disturbances (hallucinations, illusions, delusions). Patients may be combative, anxious, paranoid, or stuporous.


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First_Aid_Step2. Patients may be combative, anxious, paranoid, or stuporous. Also characterized by a ↓ attention span and short-term memory, a reversed sleep-wake cycle, and ↑ symptoms at night (sundowning). Check vitals, pulse oximetry, and glucose; perform physical and neurologic exams. Note recent medications (narcotics, anticholinergics, steroids, or benzodiazepines), substance use, prior episodes, medical problems, signs of organ failure (kidney, liver), and infection (occult UTI is common in the elderly; check UA). Order lab and radiologic studies to identify a possible underlying cause. Treat underlying causes (delirium is often reversible). Normalize fuids and electrolytes. Optimize the sensory environment. Use low-dose antipsychotics (e.g., haloperidol) for agitation and psychotic symptoms. Conservative use of physical restraints may be necessary to prevent harm to the patient or others. Also known as affective disorders.


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First_Aid_Step2. Conservative use of physical restraints may be necessary to prevent harm to the patient or others. Also known as affective disorders. A mood disorder characterized by one or more major depressive episodes (MDEs). The male-to-female ratio is 1:2; lifetime prevalence ranges from 15% to 25%. Onset is usually in the mid-20s; in the elderly, prevalence ↑ with age. Chronic illness and stress ↑ risk. Up to 15% of patients die by suicide. Diagnosis requires depressed mood or anhedonia (loss of interest/pleasure) and five or more signs/symptoms from the SIG E CAPS mnemonic for a two-week period. Table 2.14-4 outlines the differential diagnosis of conditions that may be mistaken for depression. Selected depression subtypes include the following: Psychotic features: Typically mood-congruent delusions/hallucinations. Postpartum: Occurs within one month postpartum; has a 10% incidence and a high risk of recurrence. Psychotic symptoms are common.


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First_Aid_Step2. Postpartum: Occurs within one month postpartum; has a 10% incidence and a high risk of recurrence. Psychotic symptoms are common. Atypical: Characterized by weight gain, hypersomnia, and rejection sensitivity. Seasonal: Depressive episodes tend to occur during a particular season, most commonly winter. Responds well to light therapy +/– antidepressants. Double depression: MDE in a patient with dysthymia. Has a poorer prognosis than MDE alone. Pharmacotherapy: Effective in 50–70% of patients. Allow 2–6 weeks to take effect; treat for ≥ 6 months (see Table 2.14-5). Psychotherapy: Psychotherapy combined with antidepressants is more effective than either treatment alone. Electroconvulsive therapy (ECT): Safe, highly effective, often lifesaving therapy that is reserved for refractory depression or psychotic depression, or if rapid improvement in mood is needed. T AB LE 2.1 4-4. Differential Diagnosis of Major Depression Symptoms of a depressive episode—


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First_Aid_Step2. T AB LE 2.1 4-4. Differential Diagnosis of Major Depression Symptoms of a depressive episode— Interest (loss of interest or pleasure in activities) Guilt (feelings of worthlessness or inappropriate guilt)


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First_Aid_Step2. Guilt (feelings of worthlessness or inappropriate guilt) Mood disorder due to a medical condition Hypothyroidism, Parkinson’s disease, CNS neoplasm, other neoplasm (e.g., pancreatic cancer), stroke (especially ACA stroke), dementias, parathyroid disorders. Substance-induced mood disorder Illicit drugs, alcohol, antihypertensives, corticosteroids, OCPs. Adjustment disorder with depressed mood A constellation of symptoms resembling an MDE but not meeting the criteria for MDE. Occurs within three months of an identif able stressor. Normal bereavement Occurs after the loss of a loved one. No severe impairment/suicidality; usually resolves in one year, but varies with cultural norms. May lead to major depressive disorder requiring treatment. Illusions/hallucinations of the deceased can be normal as long as the person recognizes them as such. Dysthymia Milder, chronic depression with depressed mood present most of the time for at least two years; often treatment resistant.


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First_Aid_Step2. T AB LE 2.1 4-5. Indications and Side Effects of Common Antidepressants


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First_Aid_Step2. SSRIs Fluoxetine, sertraline, paroxetine, citalopram, f uvoxamine Depression and anxiety. Sexual side effects, GI distress, agitation, insomnia, tremor, diarrhea. Serotonin syndrome (fever, myoclonus, mental status changes, cardiovascular collapse) can occur if SSRIs are used with MAOIs. Paroxetine can cause pulmonary hypertension in the fetus. Atypicals Bupropion, venlafaxine, mirtazapine, trazodone Depression, anxiety, and chronic pain. Bupropion: ↓ seizure threshold; minimal sexual side effects. Contraindicated in patients with eating disorders as well as in seizure patients. Venlafaxine: Diastolic hypertension. Mirtazapine: Weight gain, sedation. Trazodone: Highly sedating; priapism. Nortriptyline, desipramine, amitriptyline, imipramine Depression, anxiety disorder, chronic pain, migraine headaches, enuresis (imipramine). Lethal with overdose owing to cardiac conduction arrhythmias (e.g., long QRS). Monitor in the ICU for 3–4 days following an OD. Anticholinergic effects (dry


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First_Aid_Step2. migraine headaches, enuresis (imipramine). Lethal with overdose owing to cardiac conduction arrhythmias (e.g., long QRS). Monitor in the ICU for 3–4 days following an OD. Anticholinergic effects (dry mouth, constipation, urinary retention, sedation). Phenelzine, tranylcypromine, selegiline (patch form available) Depression, especially atypical. Hypertensive crisis if taken with high-tyramine foods (cheese, red wine). Sexual side effects, orthostatic hypotension, weight gain. TCAs MAOIs


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First_Aid_Step2. Discontinue SSRIs at least two weeks before starting an MAOI. Wait f ve weeks if the patient was on f uoxetine. Mixed states and mania are psychiatric emergencies 2° to impaired judgment and great risk of harm to self and others. May also be used for mania and psychosis. Usually requires 6–12 treatments. Adverse effects include postictal confusion, arrhythmias, headache, and anterograde amnesia. ■Contraindications include recent MI/stroke, intracranial mass, and high anesthetic risk (a relative contraindication). Phototherapy: Effective for patients whose depression has a seasonal pattern. Transcranial magnetic stimulation (TMS): Now approved for the treatment of major depression. TMS is about as effective as medications but is not as effective as ECT.


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First_Aid_Step2. Transcranial magnetic stimulation (TMS): Now approved for the treatment of major depression. TMS is about as effective as medications but is not as effective as ECT. Prevalence is approximately 1% for type I and an additional 3% for type II; males and females are affected equally. A family history of bipolar illness signif cantly ↑ risk. Average age of onset is 20, and the frequency of mood episodes tends to ↑ with age. Up to 10–15% of those affected die by suicide. Subtypes are as follows: ■Bipolar I: At least one manic or mixed episode (usually requiring hospitalization). Bipolar II: At least one MDE and one hypomanic episode (less intense than mania). Patients do not meet the criteria for full manic or mixed episodes. Rapid cycling: Four or more episodes (MDE, manic, mixed, or hypo-manic) in one year. Cyclothymic: Chronic and less severe, with alternating periods of hypo-mania and moderate depression for > 2 years.


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First_Aid_Step2. Cyclothymic: Chronic and less severe, with alternating periods of hypo-mania and moderate depression for > 2 years. The mnemonic DIG FAST outlines the clinical presentation of mania. Patients may report excessive engagement in pleasurable activities (e.g., excessive spending or sexual activity), reckless behaviors, and/or psychotic features. Antidepressant use may trigger manic episodes. A manic episode is one week or more of persistently elevated, expansive, or irritable mood plus three DIG FAST symptoms. Psychotic symptoms are common in mania. Symptoms are not due to a substance or medical condition and lead to signifcant impairment socially, occupationally, or familially. Hypomania is similar but does not involve marked functional impairment or psychotic symptoms and does not require hospitalization. ■ Mania: Give mood stabilizers for maintenance therapy (see Table 2.14-6) and antipsychotics in the acute phase (see the discussion of psychotic dis-


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First_Aid_Step2. ■ Mania: Give mood stabilizers for maintenance therapy (see Table 2.14-6) and antipsychotics in the acute phase (see the discussion of psychotic dis- TABLE 2.14-6. Mood Stabilizers Symptoms of mania—


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First_Aid_Step2. Flight of ideas (or racing thoughts) Activities/psychomotor Agitation 439 Lithium First-line mood stabilizer. Used for acute mania (in combination with antipsychotics), for prophylaxis in bipolar disorders, and for augmentation in depression treatment. Thirst, polyuria, diabetes insipidus, tremor, weight gain, hypothyroidism, nausea, diarrhea, seizures, teratogenicity (if used in the frst trimester), acne, vomiting. Narrow therapeutic window (but blood level can be monitored). Lithium toxicity: > 1.5 mEq/L; presents with ataxia, dysarthria, delirium, and acute renal failure. Avoid lithium in patients with ↓ renal function. Carbamazepine Second-line mood stabilizer; anticonvulsant; trigeminal neuralgia. Nausea, skin rash, leukopenia, AV block. Rarely, aplastic anemia (monitor CBC biweekly). Stevens-Johnson syndrome. Bipolar disorder; anticonvulsant. GI (nausea, vomiting), tremor, sedation, alopecia, weight gain. Rarely, pancreatitis, thrombocytopenia, fatal hepatotoxicity, and