A 42-year-old Caucasian female came to the hospital with complaints of shortness of breath and nonradiating retrosternal chest pain that persisted for 1 week, associated with 2 days of high spiking fever. The patient had migratory polyarthritis and polymorphic maculopapular rash on the back and lower extremities for 4 months. She had been treated briefly with glucocorticosteroids and pain medication, with minimal response. The patient has no known drug allergies, a negative past medical history, and no history of heavy alcohol use, herbal treatments, insect bites, or animal contact.
Physical examination revealed a high fever (38.6°C), pulse rate (106/min), respiration rate (38/min), and blood pressure (117/52 mm Hg). There were no signs of jaundice, lymphadenopathy, or goiter. Auscultation of the lungs revealed decreased chest expansion, but no rales. Auscultation of the heart was normal. Muscle tenderness was detected in the arms and legs. Skin exam showed a purplish polymorphic eruption over the lower legs bilaterally, including the feet. Similar lesions that did not blanch under pressure and were nonpruritic were noted on lower back and upper thigh.
Computed tomography scan of the chest ruled out pulmonary embolism and revealed a pericardial effusion. Echocardiography confirmed moderate effusion and was negative for endocarditis. Blood sample analysis revealed high levels of CRP (42.9 mg/dL, normal: 0–0.3), erythrocyte sedimentation rate (113 mm/h normal: 2–20), white blood cell count (21,000 cells per µL, >95% neutrophils and 28 bands), hemoglobin (9.3 g/dL, normal: 10.1–14.5 g/dL), and platelet count (212 ×109 L−1, normal: 180–427 ×109 L−1). Urinalysis showed hematuria with white blood cells and bacteria. Urine and multiple blood cultures were negative. Ferritin was significantly high at 29,349 ng/mL (normal: 10–291 ng/mL). Renal function and liver enzymes were both within normal limits.
Serology tests were positive for rheumatoid factor 146 IU (normal: 0–19 IU) and cyclic citrullinated peptide antibody 20 (normal: 0–19 IU). The patient also had a total complement of >10,000, with normal C3 and C4 levels. Antistreptolysin O was elevated, 179 IU/mL (normal: 0–120 IU/mL). Tests were negative for antinuclear antibodies, anti-DNA antibodies, antineutrophil cytoplasmic antibodies, and anti-Jo-1 antibodies. There was no marker of recent infection, including hepatitis B antigen, hepatitis C virus, human immunodeficiency virus antibodies, histoplasma antigen, Epstein–Barr virus.
On admission, the patient was thought to be septic, with the source of infection either the urinary tract or endocarditis. Bacterial endocarditis was ruled out after echocardiogram and blood cultures. The patient was started empirically on antibiotics for presumed sepsis and disseminated intravascular coagulation. A few days later, the patient’s symptoms persisted. An infectious disease consultant did not think that the patient had an active infection. The patient’s rash was thought to be due to an autoimmune process. Leukocytosis and polymorphic exanthemous rash persisted. A dermatologist biopsied the rash. According to a dermatopathologist, the findings were consistent with urticarial vasculitis. A quotidian fever persisted for 3 days and then resolved when naproxen therapy was started. The patient’s arthralgias also responded well to naproxen. Shortness of breath and chest pain resulting from pericarditis resolved after the pericardial effusion was drained and the patient was started on dapsone.
A combination of naproxen, dapsone, and prednisolone therapy resulted in significant improvement of the patient’s arthralgias and rash. The inflammatory markers decreased gradually. On day 18 of hospitalization, the patient was discharged home after resolution of her acute symptoms and improvement of her rash and joint pain. Discharge diagnoses included rheumatoid arthritis and rheumatic fever. Adult onset Still’s disease was considered in the differential diagnosis, but was considered less likely as the patient failed to fulfil the Yamaguchi criteria (the patient’s documented fever was present for less than a week, the rash was not typical for adult onset Still’s disease, there was no sore throat, and rheumatoid factor was positive).
Soon after discharge from our facility, the patient was admitted to another hospital where she was diagnosed as having adult onset Still’s disease based on a different interpretation of her rash. She is currently doing well on on adalimumab, methotrexate, and prednisone for rheumatoid arthritis and secondary prophylaxis with monthly benzathine penicillin for rheumatic fever with carditis, after taking into consideration that she developed pericarditis that can be defined as a form of carditis (pericarditis is a form of carditis). The University of Oklahoma College of Medicine ethics committee does not require ethical approval for case reports. Written informed patient consent was obtained.


A 75-year-old female with a history of asthma and hypertension had complained of dyspnea and chest discomfort, and was referred to our hospital for further evaluation. Her laboratory findings showed positive for troponin-T and elevated levels of creatine kinase-MB (24 U/L), troponin-I (0.84 ng/mL), and pro-brain natriuretic peptide (15745 pg/mL); her chest PA did not reveal any abnormality. Electrocardiogram showed ST depression on lead I, aVL, and V4-V6 leads, as well as ST elevation on V1-V2 leads. With the impression of a myocardial infarction on the anterior, septal, and lateral walls, a coronary angiography was performed only to reveal normal coronary arteries.
She subsequently underwent transthoracic echocardiography, which demonstrated apical hypertrophy with impaired left ventricular relaxation (). For further evaluation, a CMR was performed on a 3.0-T scanner (Siemens Verio, Erlangen, Germany). A thickened apical wall was noted on cine images, similar to findings on the echocardiography. T2WI () demonstrated multifocal, patchy high signal intensity lesions throughout the left ventricular wall, suggesting areas of edema. LGE images () showed diffuse subendocardial enhancement in the left ventricular wall with non-enhancing lesions in the apex, which was presumed to be a mural thrombi.
Quantitative T2 mapping with a T2-prepared SSFP pulse sequence and pre-T1 mapping with a Shortened modified Look-Locker inversion recovery (shMOLLI) technique were performed during the mid-diastolic phase along the same short-axis planes as the T2WI. The acquisition parameters for T2 mapping were: field-of-view 276x340 mm, slice thickness 6 mm, TR 243.9 ms, TE 1.3 ms, matrix 192x124 pixels, TI=100 ms, flip angle=50°. The acquisition parameters for T1 mapping were: field-of-view 273x340 mm, slice thickness 8 mm, TR 567.0 ms, TE 1.1 ms, matrix 192x124 pixels, TI=100 ms. Post-T1 mapping was performed 15 minutes after the contrast media injection, using the same slice axis and parameters as pre-T1 mapping. T2-pixel maps and pre-post T1-pixel maps were generated using commercially available software on the scanner's workstation (Syngo; Siemens Medical Solutions, Erlangen, Germany).
On quantitative T2 map images, myocardial T2 values increased to about 45.1±1.4 milliseconds (ms) (reference value at our hospital: 40.5±2.6). The precontrast T1 value of the myocardium slightly increased to 1306.0±19.2 ms (reference value at our hospital: 1278±30). Interestingly, the apex () showed oval areas with a decreased T1 value (1007±84.67 ms), which corresponded to the mural thrombi seen on the LGE images. The T1 value of the subendocardium immediately adjacent to the mural thrombi was diffusely increased (1527±67.41 ms), corresponding to areas that showed subendocardial enhancement on the LGE images. The myocardial extracellular volume (ECV) fraction of the enhancing area was calculated according to the reference with post-contrast T1 mapping and hematocrit, and greatly increased to 40.4±4.5% (reference value at our hospital: 27.4±2.4%). All these CMR findings suggested a diagnosis of eosinophilic myocarditis in the thrombotic stage. The patient underwent an endomyocardial biopsy, which revealed an eosinophilic infiltration in the myocardial interstitium ().
With the patient's history of asthma, peripheral eosinophilia (white blood cell count 13700/uL with 37% eosinophils), as well as sinusitis, Churg-Strauss syndrome (CSS) was suspected. She also tested positive for cytoplasmic antineutrophil cytoplasmic antibodies (C-ANCA) and an anti-myeloperoxidase antibody, but was negative for perinuclear cytoplasmic antibodies (p-ANCA). She satisfied four out of the six American College of Rheumatology diagnostic criteria for CSS- 1) asthma, 2) peripheral eosinophilia, 3) paranasal sinus abnormality 4) extravascular eosinophil infiltration on biopsy - and her eosinophilic myocarditis was thought to be a cardiac manifestation of CSS. She was treated with corticosteroid therapy, but her condition deteriorated and she expired after three weeks.


A 40-year-old man suffering from severe diarrhoea, fever, drastic weight loss and nausea was admitted to the Department of General Medicine, Calcutta Medical College and Hospital, Eastern India. His HIV serostatus was ascertained by an ELISA (HIV ELISA, Rapid test) and Western blot as recommended by the National Aids Control Organization (NACO), Ministry of Health and Family Welfare, Government of India. The fourth generation HIV detection test performed with the patient’s blood confirmed severe HIV infection. HIV blood viral load was found to be > 1 × 105 copies/mL. CD4+ T-cell count was 32 and CD8+ T cell count was 516 (Ratio-0.06). The man was confirmed with a diagnosis of AIDS, the final stage of HIV infection. Upon rigorous interrogation the man confirmed that he was primarily diagnosed as HIV seropositive at another government hospital “a few years back” (no documentation) but he did not think of complying with the physician’s advice or to follow up and lived a “normal” life. A thorough risk review and rigorous counselling revealed that the patient was homosexual and had sexual contacts (unprotected anal intercourse) with multiple men (probably the cause of HIV infection). But due to the fear of social stigma he never revealed his sexual preference or HIV status to anyone and continued to live a “straight” life with his wife as a heterosexual man. His wife was also diagnosed with HIV seropositivity.
Upon admission, the patient showed high fever with a significant evening rise, severe headache, rapid seizures, and drastic weight loss. The patient admitted to suffering from nausea, difficulty breathing, seizures and vomiting for quite a considerable time span. He also had a dry cough with mild expectoration and mild chest pain. The patient was mildly febrile with the presence of mild pallor, slightly anaemic, and had low blood pressure (106/58 mmHg) with a pulse rate of 110 beats/min. Clinical examination revealed acute lymphadenopathy.
On detailed examination, the man was found to have severe syphilis with chronic genital ulceration, acute pulmonary tuberculosis and human cytomegalovirus (HCMV) retinitis. HCMV IgM was detected in the patient’s blood, followed by confirmation of HCMV DNA by PCR detection. Real-time PCR estimated the viral load of HCMV to be 5.9 × 106 DNA copies/mL of serum. Indirect ophthalmoscopic examination revealed the presence of retinal haemorrhage with a hardened peripheral lesion, characteristic of HCMV retinitis. Cerebrospinal fluid culture, Mantoux test and sputum culture confirmed the presence of Mycobacterium tuberculosis. Test for cryptococcal capsular antigen turned out to be negative. Head CT scan of the patient revealed abnormal enhancement of the basal cisternae. Chest X-ray and bronchoscopy showed bilateral lung infiltration with non-specific diffused interstitial pneumonitis.
No clear evidence of cerebral palsy was observed at neurological presentation but slight neck rigidity was ascertained. A complete blood profile analysis of the patient was recorded and is provided in Table . The patient showed severe cachexia and very poor nutritional index with a BMI of only 15.8.
After confirmation, the patient was immediately put under highly active anti retroviral therapy (HAART) therapy (zidovudine, lamivudine and nevirapine) for 2 mo. After 4 wk of treatment and a limited CD4+ count increase (CD4-54), the patient was immediately started on a combination based antitubercular drug (ATD) therapy as Directly Observed Therapy Short-course (DOTS - Cat 1 regimen) along with dexamethasone as corticosteroid therapy (0.4 mg/kg per day) and pyridoxine 40 mg/d on a planned 4 wk regime. Along with the ATD, the patient was also administered valganciclovir tablet 450 mg once daily as maintenance therapy against HCMV infection. For treating genital syphilis the patient was given an intramuscular injection of benzathine penicillin G (2.4 million units) once daily for 2 wk. But even after another 2 wk treatment, the patient failed to show any significant improvements with regard to his health conditions. He suddenly developed severe respiratory distress, spasms and his fever relapsed. He also complained of a gradual dimness of vision and total visual blurring. He was put under ventilation and immediate respiratory support. After few days he succumbed to the veracity of the infections and died due to multi-organ failure.


A 21-year-old man suffering from fever and flu-like symptoms along with severe diarrhoea and abdominal cramping was admitted to the Department of General Medicine, Calcutta Medical College and Hospital, Eastern India. His HIV serostatus was found to be positive by performing HIV ELISA, Rapid test and Western Blot as recommended by the NACO, Ministry of Health and Family Welfare, Government of India. The fourth generation HIV detection test performed with the patient’s blood confirmed HIV seropositivity. HIV blood viral load was found to be 50000 copies/mL. CD4+ T-cell count was 232 and CD8+ T cell count was 920 (ratio-0.25). The man was diagnosed with acute or latent HIV infection. Upon rigorous counselling the patient admitted to being a homosexual and involved in unprotected anal sex with multiple male partners for quite a few years. He had never been sexually involved with any women. Due to the fear of social isolation, he never revealed his sexual preference to anyone. On detailed examination, he was found to be infected with genital syphilis and oral ulceration. Upon admission, the patient showed high fever, severe headache, seizures, vomiting and severe diarrhoea. He also had a dry cough with no expectoration at all but complained of a mild pain on the right side of the chest. The patient was slightly anaemic, and had low blood pressure (115/68 mmHg) with a pulse rate of 92 beats/min.
No evidence of cerebral palsy or any other neurological involvement was ascertained. There was no sign of lymphadenopathy. A complete blood profile analysis of the patient was recorded and provided in Table . The patient showed poor nutritional index. Liver function was found to be highly deranged with elevated levels of both SGOT and SGPT. Hepatic cholestasis was adequately observed by USG of the abdomen.
After confirmed HIV diagnosis the patient was started on HAART (zidovudine, lamivudine and nevirapine). Nevivir (200 mg) and lamistar were administered daily for 8 wk. Septran DS and feronia were given orally daily for 2 wk. After 2 mo the patient showed significant signs of improvement with much-relaxed breathing and no abdominal cramping. Cholestasis was found to be resolving gradually. CD4+ cell count increased to almost double (CD 4-454) and HIV load in the patient’s blood decreased uniformly (< 10000 copies/mL). As he responded actively without any genotoxic side effects towards the treatment, the anti-retroviral therapy was carried on and he was kept under observation. The doctors clearly made him understand the implications of latent HIV infection and transmission and also discussed the importance of regular medication to keep the disease under control.


A 51-year-old female admitted on March, due to large amount of vaginal bleeding. On transvaginal ultrasound, uterine was woman's feast sized, globular 3 cm sized myoma were identified in anterior lower uterine and both ovaries were normal. Biopsy under the hysteroscopy was done and showed uterine AS with histological high grade with stromal overgrowth, 30–40 brisk mitotic figures in 10 high power fields, no heterologous component, microscopically tumor cell necrosis present. Clinical staging work up was performed including CT scan and Positron Emission Tomography CT and the disease was confined to the pelvis.
She received total abdominal hysterectomy, bilateral salpingo-oophorectomy and pelvic lymph node dissection on explorative laparotomy. On gross examination, the uterus is distorted due to bulging intramural mass. There was no evidence of peritoneal seeding at exploration or any lymph node involvement from resection. Pathologic diagnosis was ASSO, high grade (). Vascular invasion and lymph nodes involvement were not showed. The patient had received six cycles of paclitaxel and ifosfomide chemotherapy as adjuvant treatment and no evidence of disease was noted on follow-up imaging.
About 4-year later, she presented to the emergency room with right-sided weakness for 2 hours. On physical examination the patient appeared acutely ill and vital sign was normal range. Motor grade in the right upper grade was IV, right lower grade was III and left side was V. sensory is intact, her cranial nerve examination was normal.
Brain MRI revealed newly appeared well-enhancing lobulated mass with extensive surrounding edema in left frontal lobe measuring 3.8×2.8 cm and midline shifting to right side (). This lesion was metastasis more likely. CT scan of chest and abdomen/pelvis did not show any evidence of systemic disease. Dexamethasone treatment was started with an improvement of neurologic symptoms. Craniotomy with radical tumor excision in left medial frontal lobe was done. Tissue from the tumor was sampled, and an intraoperative frozen-section diagnosis of metastatic carcinoma was rendered. Pathologic diagnosis was metastatic sarcoma, consistent with uterine AS. Sarcomatous component was dominant in brain metastatic AS lesion compared to primary tumor (). Postoperative brain MRI demonstrated a gross total resection with no evidence of residual enhancing mass and her right upper and lower limb motor were recovered to grade V and the patient was discharged. Although postsurgical additional radiation therapy to brain was recommend, our case that underwent brain surgery refused subsequent radiation and chose close observation with no immediate additional active treatment. At a follow-up 12 months, the patient is still alive in good clinical conditions except mild neurologic deficit after resection and there was no evidence of tumor recurrence.


Our case is about a 39-year-old male, who suffered an electrical burn with high tension wires that caused an intraparenchimal bleeding. The patient was working on the ceiling of a house when he received an electrical discharge on his head. A high voltage wire touched his head, after which, he lost awareness without recovery. He received primary care by paramedic personal, who found the patient with 6 points on the Glasgow Coma Scale (GCS). He was sedated with advanced airway manage and was sent to our medical center. He arrived under the effect of sedation, with the Ramsay scale of 6, therefore, he continued under sedation and with mechanical-assisted ventilation.
On physical examination, he presented an electrical burn in the parietal area (entry zone) with a diameter of approximately 8 cm [], along with an electrical burn in the left forearm (exit zone) []. He was isometric with 3-mm sized pupils. In the laboratory analysis, we found high CPK levels (CPK 12307), secondary to rhabdomyolysis.
The head tomography scan revealed an intraparenchimatous bleeding in the left parietal area, under the entry zone, with gas density inside the hemorrhage []; the calculated volume was about 60 cm3 with deviation of the midline elements. He underwent surgical drainage through enlarged single burr-hole.[]
The control tomography scan showed the subtotal evacuation of the hemorrhage and the recovery of midline structures [].
After surgery, he stayed in the intensive care unit (ICU) for 5 days where he presented renal failure secondary to rhabdomyolysis. During the ICU monitoring, he had satisfactory evolution. He was extubated and discharged to our hospitalization service, where he stayed for 5 days to complete antibiotic treatment. He was discharged from our hospital with 15 points in the GCS and the skin lesions in epithelialization phase.
The clinical effects of electric injury may be classified into immediate and late manifestations. The immediate manifestations include cardiac and respiratory arrest, loss of consciousness, motor and sensory disturbances, amnesia, and confusion. The late manifestations may be divided into focal and nonfocal deficits and may occur days to months after the electric injury. Focal deficits include cerebral (hemiplegia, aphasia), spinal (transverse myelitis, progressive muscular atrophy, amyotrophic lateral sclerosis), and peripheral nerve (neuropathies, radiculopathies) manifestations. Nonfocal symptoms such as psychoneurotic behavior, personality changes, confusion, amnesia, and headache are common, and their occurrence is not restricted to cases in which the brain lies in the electric current pathway. Abnormal electroencephalograms (EEGs) have been documented in cases in which the brain is outside the current pathway.[]
Although the exact mechanism of nerve injury has not been explained, both direct injury by electrical current and/or a vascular cause receive the most attention.[]
Four theories have been considered to explain the histopathological findings of electric injury. (1) The electrostatic theory suggests that, if the victim is not grounded, electric charges build up in the body, producing electrostatic effects. Particles with similar charges repel each other, resulting in a sudden expansive force of the body tissues that raises waves of decompression under the skin. This may account for the tissue rupture seen in autopsy, however, it does not explain the unilateral predominance of clinical effects or abnormalities beyond the current pathway. (2) The vascular theory suggests vasoconstriction as the mechanism of the acute manifestations. Initial injuries and subsequent vascular thrombosis may account for the delayed manifestations. Animal studies have shown that pial vessels constrict when exposed to electric stimulation. (3) The mechanical theory suggests that the injury is caused by a violent jarring of the tissue because of the electrical current. (4) The heat theory suggests thermal injury to the brain tissue as the mechanism of the pathological findings. Cerebrospinal fluid temperatures as high as 145°F have been recorded 5 hours after legal electrocution.[]
Electrical injury results in direct damage of the tissue because of the electric current and subsequent heat generation. The amount of direct damage depends primarily on the intensity of the current. Ohm’s law states that this current is proportional to the voltage and inversely proportional to the resistance of the tissue. Although we would expect the current density to be higher in nerves and blood vessels because of the low resistance, the tissues act as a volume conductor, with the composite resistance of all the tissue components.
The heat that is generated by the passage of the current can be quantified with Joule’s law, which states that heat is proportional to square of the voltage and inversely proportional to the resistance of the conductor.
Although the resistance and voltage are important for determining the current and the heat generated, other factors that determine the clinical injury include the duration of contact with the conductor and the pathway of the current’s flow. Heat generation due to the passing current causes direct damage to the tissues. Robson et al. demonstrated that electrical injuries result in elevated levels of thromboxane A2. The high thromboxane A2 levels contribute to progressive tissue necrosis by causing vasoconstriction and thrombosis in the microcirculation. Partial or complete vessel occlusion may occur at the time of the injury, especially in smaller nutrient arteries, and delayed arterial thrombosis may also occur. Electrical injury to blood vessels causes varying degrees of damage to different layers of the vessel. Wang et al. examined aorta and pulmonary artery endothelial cells from electrocution victims and found that cell membrane perforations were present within 24 hours of the electrical injury, whereas after 24 hours, the endothelium disintegrated. Jaffe et al. found that electrical injury caused a complete loss of endothelial cells. The muscle fibers of the media were more sensitive to electric current, whereas the adventitia showed little change. The vessels lost their elasticity, and fusiform aneurysms were common.[]
Human body can transport electric current, but in an electric shock situation, similar to the case presented here, current distribution through the body depends specifically on each person as well as on the circumstances of the electric shock. Although dielectric properties of tissue have been described, particular circumstances play a major role in electrical injury, i.e., skin resistance, voltage breakdown of skin, contact area with source voltage, distance between points of contact, and of course source voltage. According to our patient’s set of images, we can try to study the current distribution and possibly the tissue injury in the first centimeters depth, from the contact point in his head. First, let us consider the dielectric properties of tissue shown in .
In a macroscopic approach, these properties can be used to analyze the different tissue behavior as a resistive element of current transport; hence, we can present a biological system injury which will have circuit properties of both serial and parallel circuits.
Therefore, the electric power (P = I2 × R, from Ohm’s law) is a helpful measurement to compare the role of each resistive element in this biological circuit system, taking into account specific dielectric and geometrical properties we can estimate power deposition.
According to power values shown in , most heat generation would be expected to occur in tissue with the highest resistive value if we use Joule’s law, H = I2 × R × t, current I is constant in every node of the circuit by conservation of electric charge. This is in skin and blood vessel tissue.[]
In our case, the injury must be secondary to mixed sources, mainly the heat generation hypothesis, i.e. the electric current passing through different tissue resistance damages the vascular tissue, that was the bleeding source, and the heat generation was capable to disrupt the chemical interaction between the oxygen and the hemoglobin. The high temperature leaves the accumulation of gas density in to the hematoma [].
In this case, the electric route was the scalp, cranial bone, blood vessels and brain, upper limb muscle, and skin. The damage was different according to the dielectric property of each tissue. The injury was in the scalp, cerebral blood vessel, skeletal muscle, and upper limb skin.
The main damage was in the brain’s blood vessels because of the dielectric and geometric features, leading to bleeding, high temperature, and gas delivering (maybe oxygen or carbon dioxide, delivered from the hemoglobin). It is remarkable to mention that although the blood vessel and brain tissue had similar calorific capacity, the blood vessel has higher resistance and it leads to higher temperature than the brain tissue.


A 51-year-old perimenopausal woman (gravida 12, para 12, abortion 0) was admitted to the gynecology clinic with abdominal distention. Her last pregnancy had been 12 years ago and had resulted in delivery at term. During the past 2 to 3 years she had suffered from oligomenorrhoea, with her last menstruation occurring 10 months before admission to the clinic. She had a 2-year history of spotting episodes (light, irregular bleeding). Contrary to the usual symptomatology, she had not had any other clinical symptom beyond abdominal distention and vaginal spotting. The patient had no history of contraceptive use or of GTD. Her blood type was O, Rh positive.
On gynecologic examination, a solid mass extending up to 8 cm above the umbilicus was palpated (). The ultrasonographic scan confirmed that the giant mass originates from the uterus (). The uterus was enlarged with a heterogeneous vesicular mass, obliterating the endometrial cavity to the approximate size of a 28-week gestation. Serum hCG was determined to be greater than 200,000 mIU/mL. Hepatic, renal, and thyroid function tests showed normal results. No abnormalities other than an enlarged uterus were observed on cranial or abdominal magnetic resonance images. Computerized tomographic images of the thorax showed multiple nodular lesions in both basal lung segments (). An endometrial biopsy was considered, but because of her age and risk of sudden-onset uncontrollable vaginal hemorrhage, hysterectomy was considered a safer option.
Exploratory laparotomy showed an evident thinning of the uterine wall and marked vascularity extending to the serosa of the uterus. Total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. During surgery, it was noted that the vessels in the parametrial region demonstrated increased fragility. The estimated blood loss was about 700 to 800 mL; an intraoperative transfusion was not necessary. Macroscopic findings confirmed an enlarged uterus (28×25×15 cm in size) and an enlarged endometrial cavity containing edematous villi. In our case, gross appearance strongly suggested a complete mole, but histopathologic and immunohistochemical examinations confirmed the diagnosis of the invasive mole. Microscopic examination revealed generalized hydropic villi and excessive proliferation of atypical and hyperchromatic trophoblastic cells, which invade into the adjacent myometrium or lymphatic vessels (). Immunohistochemical studies showed that myometrial lymphatic vessels stained strongly with CD31 ().
According to the World Health Organization modified prognostic scoring system for GTD, the patient was classified as high risk (total score 7); the patient was stage III on the International Federation of Gynecology and Obstetrics (FIGO) staging system. The patient's serum hCG levels dropped rapidly to 7,165 mIU/mL at the fifth week after surgery. Thereafter, 6 weeks after the operation, hCG levels declined to 2,962 mIU/mL and remained at a plateau between 2,500 to 3,500 mIU/ml during weekly follow-up evaluations (for a non-pregnant woman, the normal value is <5 mIU/mL). Combination chemotherapy regimen including EMA-CO (etoposide, methotrexate, and dactinomycin with cyclophosphamide and vincristine) was scheduled. Her hCG levels decreased to normal reference ranges in the second chemotherapy cycle; two additional cycles were given in order to reduce the risk of relapse. Her invasive mole went into complete remission as of follow-up 12 months after chemotherapy.


A girl aged 13 years and 9 months with no previous morbidity was referred to our department with a 2-week history of evident periorbital and pretibial edema, myalgia, and fatigue. Her blood pressure was 130/80 mm Hg, and urine dipstick testing showed proteinuria +++ and microhematuria ++. She had no recent history of infections and she was not taking any medication. She had a β-thalassemic trait. Her family history was unremarkable for renal diseases but positive for thrombosis. Laboratory investigations revealed mild renal failure with serum creatinine at 1.04 mg/dl (an estimated glomerular filtration rate of 85 ml/min/1.73 m2 using Schwartz's formula), hemoglobin at 10.1 g/dl, and a normal platelet count. Serum electrolytes, albumin, and the lipid panel were within the normal range. Urine analysis showed proteinuria up to 2 g/24 h and presence of 107 erythrocytes/μl. Renal ultrasound was unremarkable. The complement system components C3 and C4, hemolysis indices, antinuclear and antineutrophil cytoplasmic antibodies, prothrombin time, and activated partial thromboplastin time were normal. Viral serologic markers for hepatitis B, hepatitis C, varicella, cytomegalovirus, Epstein-Barr virus, rubella, measles, and mumps excluded any infection. Thrombophilia screening tests showed mild hyperhomocysteinemia up to 15.5 μmol/l (normal value 4–13) and a methylenetetrahydrofolate reductase (MTHFR) gene homozygous mutation (C677T variant).
Renal biopsy demonstrated diffuse thickening and multilayering of glomerular capillaries with entrapment of red blood cell fragments. Hilar arterioles showed intimal fibromucoid hyperplasia; occasional thrombi occluded vascular lumina (fig ). On ultrastructural examination, glomerular capillaries and arterioles were thickened for subendothelial amorphous material deposition and endothelial cell hyperplasia (fig ). A routine immunofluorescence panel (IgA, IgG, IgM, C1q, C3, and fibrinogen) was substantially negative in glomeruli; C3 complement fraction stained arteriolar walls (fig ). These findings were consistent with thrombotic microangiopathy (TMA).
Normality of ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) protease activity (55%; normal value 50–150) and the absence of antibodies against ADAMTS13 excluded thrombotic thrombocytopenic purpura. The C5b-9 membrane attack complex of complement had results in the normal range. Genetic analysis was undertaken to screen for atypical hemolytic uremic syndrome (aHUS) risk factors.
Fluid restriction, a low-sodium diet, and antihypertensive therapy with carvedilol and amlodipine were started with normalization of blood pressure. When the nephrosis had resolved, ramipril was introduced to control proteinuria. A thrombophilic status was treated by cobalamin and acetylsalicylic acid administration. Within 2 months, the proteinuria became negative with persistence of only mild microhematuria. Serum creatinine also progressively returned to the normal range.
Screening for alternative complement factor 3 (C3), factor I (CFI), and factor B (CFB) and membrane cofactor protein (MCP) mutations, as well as for factor H (CFH) and CFI autoantibodies, resulted negative. Molecular analysis of the THBD gene, coding for thrombomodulin, showed a rare heterozygous missense mutation (P501L variant) inherited from the mother consistent with aHUS diagnosis. Furthermore, the patient was carrying 2 CFH gene heterozygous polymorphisms (2016G and 2808T variants) in short consensus region (SCR) 11 and SCR 16, respectively.
One year after disease onset, the patient presented severe microangiopathic hemolytic anemia [hemoglobin 7.2 g/dl, unconjugated bilirubinemia 1.62 mg/dl, lactate dehydrogenase (LDH) mildly increased to 500 U/l, haptoglobin <1 mg/dl, and reticulocytes 11%] with a normal platelet count (236,000/mm3) and renal function. Circulating C3, C4, and C5b-9 levels were normal. Following vaccination against Neisseria meningitidis, eculizumab was introduced at 900 mg weekly for the first 4 doses, followed by 1,200 mg at week 5 and every 2 weeks thereafter (standard dosage). Rapid normalization of hemoglobin, haptoglobin, and LDH was observed. Currently, after more than 1 year of follow-up, the patient is doing well with no disease recurrence.


A 35 years old male patient presented with a lump on the dorsum of the right hand of 8 months duration. The swelling recurred twice after the previous excision. The histopathological diagnosis was a giant cell tumor. After the second recurrence, he was offered amputation, through the wrist by the first surgeon and an onco surgeon as well. Patient sought online consultation in the USA and the UK. The suggestion was for ray amputation. On presentation, there was swelling on the dorsum of the hand []. X-ray showed a thin shadow of subchondral bony rim of the third metacarpal head [].
The tumor consisting of soft tissue between the adjacent second and fourth metacarpal was excised. The cartilaginous shell of the head of the third metacarpal was excised as well. This exposed the base of the proximal phalanx of the affected middle finger []. A corticocancellous bone graft was interposed between the remaining unstable proximal phalanx and the adjacent proximal phalanx of the ring finger []. Kirschner wires are passed through adjacent proximal phalanges []. The wires were clamped with an external fixator. The wires in the second metacarpal were for added stability only [Figures and ].
The proximal half of the proximal phalanges is normally within the skin of the web spaces []. The graft is placed within this skin pocket of the web. Flexion at the metacarpophalangeal joint of the connecting rod of the spanning fixator prevented stiffness at the joint [].
X-ray in the year 2012 [] and in October 2014 [Figure –], which was 7 years after surgery, showed graft maturation, integration without absorption. The range of motion (ROM) is shown in Figures –. The accompanying Tables and show the ROM, grip strength, and pinch strength. He can play cricket, drive car, can do personal care and office work painlessly. Quick DASH score is 0. Flexion and extension of the proximal phalanges of long and ring fingers at metacarpophalangeal (MP) joints occur together. Similarly, there is ROM of 30°–90° of the affected long finger at the MP joint. Full flexion at the MP joint is noteworthy! Abduction and adduction of the long and ring fingers occur together but do not affect his activities. There is radial deviation of the ring finger at the MP joint level. Wider graft would have kept the digits wider apart and may have been more beneficial. There was also inability of the index to actively extend fully, though fully correctable passively.


A 13-year-old girl presented with malar rash [], fever, myalgia, stiffness of hands and knees, and photosensitivity. On physical examination, she appeared febrile (39.5°C), pale (2 + pallor), with heart rate 120/min, respiratory rate of 28 breaths/min, and blood pressure 112/70 mmHg. On auscultation, she had diffuse wheezing, crepitations in lower thirds of lungs, and rhythmic heart sounds without murmurs. Laboratory examination revealed the following results: Hemoglobin (Hb) - 9.0 g/dL; hematocrit - 27%; white blood cell (WBC) count - 2800/mm3 (95% neutrophils, 2% lymphocytes, and 3% monocytes), platelet count - 56,000/mm3; C-reactive protein - 40 mg/L (normal <5.0 mg/L); C3, 35 mg/dL (normal 90–180 mg/dL); C4, 7.0 mg/dL (10–40 mg/dL); antinuclear antibodies (ANAs) by indirect immunofluorescence (1/640 homogenous nuclear pattern). Chest X-ray revealed opacification of both hemithoraces and 24 h proteinuria, 1.0 g (normal <0.5 g/24 h) was also noted. A diagnosis of JSLE was established according to the revised classification criteria proposed by the American College of Rheumatology,[] based on malar rash, photosensitivity, nonerosive arthritis, positive ANA, serositis (pleural effusion), and hematological disorder (leukopenia, lymphopenia, and thrombocytopenia), and proteinuria. She was treated with oral prednisolone (60 mg/day) and hydroxychloroquine (150 mg/day).
Seven months later, she presented with high fever, severe cough with expectoration, abdominal pain, and distension with generalized erythematous maculopapular rash []. Routine blood test revealed Hb - 8.5 g/dL; WBC - 2000/mm3; platelet count - 30,000/mm3. Abdominal computed tomography (CT) showed evidence of hepatosplenomegaly and enlarged retroperitoneal lymph nodes with thoracic CT showing bilateral hilar lymphadenopathy. A Doppler echocardiography revealed pulmonary arterial pressure of 64 mmHg.
A punch biopsy was taken from the skin lesion on the forearm, and histopathological examination of the formalin-fixed, paraffin embedded, and hematoxylin-eosin stained sections revealed diffuse infiltration of the dermis with small round to oval organisms surrounded by a clear space resembling spores of Histoplasma sp. [Figure and ]. The organisms were better appreciated in periodic acid-Schiff [] and methenamine silver stains.
Bone marrow (BM) aspiration as well as biopsy was done which revealed hypocellular marrow with macrophages containing numerous intracytoplasmic oval organisms with a surrounding clear halo similar to those found in skin biopsy [Figure –].
Culture from the skin tissue specimen grew white cottony colonies suggestive of H. capsulatum.
The patient was started on intravenous amphotericin B (1.0 mg/kg/day). Despite this therapy, she died 12 days later due to septic shock. An autopsy revealed the evidence of septic shock and disseminated histoplasmosis involving lung, lymph nodes and BM with no signs of pulmonary thrombosis, and vasculitis.


A 70-year-old woman presented with a 25-year history of reticulate pigmentation over the trunk and extremities. For the past 20 years, she also complained of erythema and burning sensation on exposure to sunlight. She also developed a loss of hair from the scalp and eyebrows with few itchy violaceous scaly plaques over the trunk and extremities in the past 10 years. There was no history of muscle weakness, oral ulcers, and joint pain. On examination, there was brownish reticulate pigmentation in a generalized distribution involving the trunk and extremities, sparing the mid-face. There were few skip areas on the chest []. She also had scarring alopecia of the frontoparietal scalp and nonscarring alopecia of the eyebrows, axilla, and groin []. In addition, there were multiple, discrete, well-defined, 3–4 cm-sized, violaceous, scaly plaques over the trunk and forearm []. Oral cavity, palms, soles, nails, and genitals were found to be normal.
Her routine hematological and biochemical investigations were within normal limits. Antinuclear antibodies, anti-double-stranded DNA antibodies, muscle enzymes, 24 h urine protein analysis, and computed tomography scan of the chest and abdomen were found to be normal. Her skin biopsy from the reticulate hyperpigmented plaque showed atrophic epidermis and multiple dilated, congested capillaries in the papillary dermis []. Biopsy from the alopecic patch over the scalp revealed epidermal atrophy and papillary dermal sclerosis with pigment incontinence. A skin biopsy from violaceous plaque showed compact hyperkeratosis, parakeratosis, irregular acanthosis, and mild papillary dermal fibrosis. A band-like lichenoid infiltrate was seen in the upper dermis at one end of the section. There was basal cell damage in this area with occasional necrotic keratinocytes and dermal melanophages. There were dilated capillaries in the papillary dermis [Figure and ]. Direct immunofluorescence test was negative. Dermoscopic evaluation (Heine Mini 3000, nonpolarized, model no.-D-886.11.021, Germany) of the reticulate plaque over the chest showed the presence of dots and globules in a reticular pattern with the presence of atrophy and multiple telangiectasias []. Based on the clinical, histological, and dermoscopic findings, a final diagnosis of poikiloderma due to lichen planus pigmentosus was made, and she was administered oral prednisolone (40 mg) which resulted in a significant improvement in pruritus and visible flattening of violaceous plaques within 1 month of the treatment. Prednisolone was gradually tapered after an improvement was seen in itchy plaques, and to some extent in hair growth, however, poikiloderma continued to persist.


A 48-year-old, previously healthy female patient visited the emergency department with initial presentation of intermittent abdominal pain and anal bleeding. The patient explained that the symptom had first begun 4 to 5 years ago. Under the clinical impression of hemorrhoids, the patient underwent a hemorrhoidectomy. The patient had no particular family history, changing bowel habits or mucoid diarrhea. An abdominal computed tomography (CT) was conducted 2 weeks later as a part of the evaluation process, which revealed a colocolic intussusception from the sigmoid colon to the distal rectum. In addition, prominent mucosal folds were observed without any ischemic change or pericolic abnormality. Following the CT scan, a barium enema revealed a large movable and compressible submucosal mass in the distal portion of the sigmoid colon (). Multiple similar yet smaller lesions were also present near the main mass in the sigmoid colon. The intussusception spontaneously regressed without any complications. Colonoscopy revealed several large polypoid masses in the rectosigmoid colon and multiple biopsies were obtained. The biopsied specimens were diagnosed as chronic nonspecific inflammation without any definite submucosal masslike lesions. Due to the presence of such large lesions, the patient underwent a laparoscopic low anterior resection in which a 21.5-cm segment of colon was resected.
The surgical specimen revealed multiple, large, tree-like branching polypoid masses, with elongated or pedunculated stalks or a wide broad base, measuring up to 14.0×5.0×4.5 cm in dimensions of the largest polypoid mass (). Upon microscopic examination of the lesions, most of the polyps had long, elongated, and loose or fibrotic submucosal elongated stalks, while some were sessile. There was neither prominent cytologic atypia nor active inflammation in the mucosa. There was also proliferation of mature fat tissue, lymphoid follicles, multiple dilated blood vessels, and hypertrophied smooth muscle of the muscularis mucosae (). Immunohistochemical staining with α-smooth muscle actin revealed hypertrophied smooth muscle of the muscularis mucosae (). However, there was no tree like proliferation of the muscularis mucosae as in Peutz-Jeghers polyps. Staining with other antibodies, such as anaplastic lymphoma kinase, c-Kit, β-catenin, CD34, and S-100 protein, showed negative findings in all.


A 67-year-old man was referred to our Department of Otorhinolaryngology in December 2014 for the evaluation of anorexia, painful dysphagia, hoarseness, diarrhea, and a history of unintentional weight loss of about 15 kg (equaling approximately 20% of his previous body weight of roughly 80 kg) in the last 3 months, accompanied by intermittent fever, night sweats, and chills. His past medical history consisted of stable coronary heart disease and well-controlled chronic obstructive pulmonary disease caused by long-term tobacco smoking (about 30 pack-years). His long-term medication consisted of aspirin and inhaled anticholinergic and corticosteroid bronchodilators.
He was a retired engineer employed at a local steel company, operative in Africa and Middle and South America, where the patient was involved in construction work and soil-disruptive activities for several months. However, there was no history of far distance travelling during the last 6 years.
On admission, the patient was in an alarming general condition, cachectic with a wasting syndrome, requiring intermittent parenteral nutrition. The most obvious clinical observation was an extremely painful stomatitis and angular cheilitis with ulcers involving the tongue and the palate (Fig ). Laboratory data on admission included an unremarkable blood count with slightly elevated C-reactive protein of 3.8 mg/dL, an increased lactate dehydrogenase of 264 U/L, and a mildly elevated angiotensin-converting enzyme level of 64 U/L in the serum. Screening for tumor markers and autoimmune disease as well as testing results for HIV, hepatitis, and tuberculosis were negative. No evidence of immunodeficiency could finally be provided. Chest X-ray demonstrated an emphysematous lung with reticulonodular parenchymal changes (Fig ).
Further evaluation for a suspected occult malignant disease, bearing in mind the long-term tobacco consumption, included a whole-body positron emission tomography scan, which detected an additional hypermetabolic process in the ascending colon (Fig ). This prompted us to perform an endoscopic evaluation of the colon and the terminal ileum. Macroscopically, rather small ulcerous lesions and erosions presented on a diffuse edematous mucosa with capillary congestion in the terminal ileum and ascending colon upon endoscopic examination (Fig ). Histological examination of the biopsies excluded a malignant process but rather described a polypoid mucosa infiltrated by a kind of granulomatous inflammatory process with the presence of prominent histiocytes. Intracellularly, these “foam cells” harbored abundant intracellular round-shaped fungal elements with a characteristic halo sign, about 2–4 µm in diameter, highly indicative of H. capsulatum (Fig ).
Biopsies of the tongue and a computed tomography-guided puncture of the lung confirmed the presence of round intracellular fungal forms using periodic acid-Schiff staining (Fig ). Diagnosis was finally established from an oral re-biopsy by panfungal polymerase chain reaction, performed at a reference center at the Medical University of Vienna, confirming positivity for H. capsulatum.
Liposomal amphotericin B (1 mg/kg body weight) was administered to the patient, and constitutional symptoms markedly improved during the next few days. Lesions in the oral cavity showed a dramatic positive response to antifungal treatment. After 4 weeks of treatment, the patient was discharged from hospital and switched to oral itraconazole.
On follow-up 6 months later (Fig ), the patient continued to improve and subjectively reported that his voice was much stronger and that his dysphagia and gastrointestinal symptoms had completely resolved.


A 40-year-old male with a document of the history of PMD presented with complaints of decreased vision and extreme discomfort with CL. The patient had undergone bilateral wedge resection, 7 years before presentation. The presenting uncorrected visual acuity (UCVA) was 20/300 in the right eye and 7/200 in the left eye. His best-corrected visual acuity (BCVA) was 20/25 OU with the following refractions: OD, Plano − 11.00 × 90° and OS, +0.25 − 12.00 × 85°. Corneal topographies were consistent with the patterns characteristic of PMD in both eyes []. The patient was offered a novel surgical technique (Motowa's Trephine with Selective Suturing Technique) that would allow him to retain his cornea rather than undergo corneal transplantation. This surgical technique is a partial thickness corneal trephination with adjusted compression sutures. The risk and benefits of PKP, lamellar keratoplasty, and Motowa's Trephine with Selective Suturing Technique were explained to the patient. The patient consented to the undergo Motowa's Trephine with Selective Suturing Technique.
The right eye underwent surgery first in April 2012. The eye was prepared in a sterile fashion, and two drops of topical anesthetic were instilled. A surgical drape was placed on the eye, and a lid speculum was placed to maximize globe exposure. The geometric center of the cornea was marked with a Sinskey Hook and a marking pen. A Hessburg-Barron vacuum trephine (Barron Precision Instruments, Grand Blanc, MI, USA) was used, and the cornea was partially trephined at 8 mm diameter to 90% of the actual corneal thickness. The vacuum trephine was then released. The cornea was sutured in a manner similar to PKP using 16-interrupted 10–0 nylon sutures. Sutures were selectively adjusted and tightened unequally to address preexisting astigmatism. For example, the superior half of sutures was intentionally adjusted very tightly and the inferior half was normal tightness to equalize and distribute the cylinder power over the entire corneal surface. At the conclusion of surgery, the Maloney surgical keratometer (Katena Products Inc., Denville, NJ, USA) was used to measure residual astigmatism and some sutures were modified accordingly. Erythromycin ointment was applied and the eye was patched. Postoperatively, the patient was prescribed Maxitrol (Alcon Inc., Fort Worth, TX, USA) eye drops for 2 weeks and topical lubricants as required. The left eye underwent the same procedure 9 months after right eye surgery.


A 55-year-old man with hypertension was admitted to a local hospital with a 2-day history of persistent nausea, myalgia, and epigastric pain following vomiting after drinking alcohol. He had been receiving anticoagulant medication due to thrombosis of the portal vein, superior mesenteric vein, and splenic vein and had a history of admission 3 months prior due to acute pancreatitis. A chest computed tomographic (CT) scan performed 5 days later revealed a suspicious wall defect on the left side of the lower esophagus with an adjacent extraluminal air bubble and a large left pleural effusion.
The patient was transferred to Severance Hospital 8 days after the onset of symptoms. Upon arrival, his blood pressure was 148/81 mm Hg and his heart rate was 137 bpm, and he had a fever of 38°C. Laboratory tests revealed a low hemoglobin level of 9.6 g/dL, a leukocyte count of 18,250/μL, an elevated prothrombin time of 19.7 seconds, and an elevated international normalized ratio of 1.72. Chest radiography revealed total opacification of the left chest (). He underwent an emergency operation under the suspicion of esophageal rupture.
On the operating table, upper gastrointestinal endoscopy revealed an ulcerative fistula lesion measuring approximately 2.5 cm at the gastroesophageal junction. The left side was approached by video-assisted thoracoscopic surgery (VATS). The pleural cavity was filled with food material and a foul-smelling fluid. After decontamination with saline irrigation, a 2.5-cm transmural perforation of the esophagus was identified 2 cm above the diaphragm (). After the defect was debrided, a rubber T-tube (16 Fr), generally used for biliary tree disease, was positioned into the rupture and the esophageal wall was closed with polypropylene sutures (Prolene; Ethicon, Somerville, NJ, USA). The T-tube was then brought out through the lateral chest wall and connected to a drain. Two drainage tubes were placed in the left pleural cavity and mediastinum. In addition, a Jackson-Pratt drain was placed next to the lower esophagus for irrigation. A feeding jejunostomy was also performed through a mini-laparotomy. After surgery, the patient was transferred from the operating room to the intensive care unit. The total operation time was 220 minutes, and the total anesthesia time was 290 minutes.
Postoperatively, the patient received broad-spectrum antimicrobials and supportive care. On postoperative day (POD) 1, the patient was weaned from a mechanical ventilator and transferred to the general ward on POD 8. He started feeding through a feeding jenunostomy on POD 2. He was discharged on POD 41 with a T-tube and a Jackson-Pratt drainage in good general condition. After confirming the absence of discharge through the Jackson-Pratt drain on POD 68, the T-tube was gradually withdrawn every week and finally removed on POD 98 in an outpatient clinic (). An esophagogram on POD 94 showed no leakage but a slightly stenotic appearance (). On POD 94, he restarted an oral diet, and the feeding jejunostomy was removed on POD 129 at an outpatient clinic.


A 16-year-old male came to our outpatient clinic with complaints of foreign body sensation and diminished vision in right eye. He gave history of blackish discoloration of the skin over right and left side of forehead since birth. There was no history of mental retardation and convulsion [].
Birth history was not significant and there was no family history of consanguinity.
General examination showed melanotic patches over right and left side of face, forehead, and temple. The scalp region also showed involvement in the form of nevus sebaceous in its characteristic clinical appearance and patchy alopecia.
Magnetic resonance imaging (MRI) of brain was normal.
Examination of right eye showed visual acuity up to 2 m. Finger counting and the slit lamp examination showed a large mass hanging over temporal bulbar conjunctiva involving superotemporal quadrant of the cornea []. Fundus examination showed posterior staphyloma, chorioretinal atrophic patches, and coloboma over superotemporal arcade.
Examination of left eye showed visual acuity 20/40, megalocornea, and nevus over temporal limbus with Intraocular pressure of 18.9 mmHg and fundus was normal.
Ultrasonography preoperatively showed both eye axial length 26 mm, only right eye showing posterior staphyloma, rest no abnormality detected. Surgical excision of the limbal mass was planned [].
An attempt was made to remove the limbal mass surgically under peribulbar anesthesia. A fine dissection was carried out to separate the mass from sclera but separation was not possible and as the dissection went deeper, uveal tissue was visible. The mass was found to be involving superotemporal quadrant of the cornea. At the end of dissection, mass was separated leaving behind a gap of size 1 × 1.5 cm in the scleral coat showing black uveal tissue. The excised mass consisted of pigmented and nonpigmented areas and was soft to hard in consistency which was sent for histopathological examination. Preserved sclera of size 1 × 1.5 cm was fashioned and sutured to cover up the defect with 6-0 black nylon in intermittent fashion.
Postoperatively, fundal glow improved but improvement in visual acuity was negligible due to chorioretinal coloboma.
Gross/macroscopic examination showed grayish black mass measuring 1 × 0.5 cm and another mass of brownish color measuring 1.5 × 1 cm and mature cartilage measuring 1.5 × 2 cm.
Microscopic examination of grayish black mass showed stratified squamous epithelium with adnexal structure, lacrimal glands, adipose tissue, neural tissue, and mature cartilage. Another brownish colored mass revealed area of stratified squamous epithelium with compound melanocytic proliferation, pigmentation without atypia and mitosis, suggestive of compound melanocytic nevus.
Histopathological examination was consistent with complex ocular choristoma.


A 51-year-old man underwent two gastroscopies over the prior 2 years with the indication of intermittent dyspepsia. On the last endoscopy, the ampulla of Vater was described as bulging; biopsies were performed and histological examinations revealed mild chronic, nonspecific, inflammatory mucosal lesions of the ampulla and duodenum, with regional architectural disturbances, epithelial hyperplasia, accompanying mild nuclear stratification, and atypia, not fulfilling the diagnostic criteria for epithelial dysplasia.
The patient was referred to our clinic with persistent, intermittent epigastric discomfort and pain, and we therefore scheduled a repeat examination in order to exclude an ampullary tumor. The patient was on acenocoumarol since an episode of pulmonary embolism 2 years prior. The extensive work-up after this episode did not reveal any aggravating factors for the embolism. In view of the results of the endoscopy, we advised the patient to discontinue acenocoumarol and changed to low molecular weight heparin (enoxaparin 40 mg/day).
The patient was heterozygous for sickle cell disease (hemoglobin electrophoresis: HbS, 29.5%; HbF, 0.6%; HbA2, 3.6%). The hemoglobin level before the procedure was 14.2 g/dL. He reported infrequent alcohol intake and smoking cessation 4 years prior. A side-viewing scope (Olympus TJF-145 Video Duodenoscope; Olympus, Tokyo, Japan) was used with the patient under conscious sedation (midazolam 2 mg, propofol 60 mg). The ampulla of Vater was examined and showed mild granularity (). Eight biopsies were obtained from the area around the ampulla with a reusable oval-cup forceps (Olympus FB-26N-1; Olympus). No excessive bleeding was observed during endoscopy. No arrhythmia was recorded during the procedure. Recovery was uneventful and the patient went home accompanied by another person. He had a light meal 2 hours after the procedure (cheese pie).
One hour after the meal, the patient experienced an acute, severe (eight out of 10), persistent abdominal pain with recurrent, unrelieved vomiting. He contacted his family doctor but refused hospital admission and was monitored on an outpatient basis. On the second day, the patient reported less vomiting, but the pain was still intense and he additionally became febrile to 38.5°C. He was advised to stop solid food intake and only take regular oral hydration.
On day 3, the symptoms improved with no vomiting, milder abdominal pain, and a temperature less than 37.8°C. Blood and urine tests were performed on the same day. Serum and urine amylase levels were 845 U/L (normal <100) and 8,500 U/L (normal <460), respectively. Lipase testing was not available in our unit. Kidney and liver tests showed normal results except for a slight elevation of the alanine aminotransferase level. Blood triglyceride level was 110 mg/dL (normal <150) and the calcium level was 9.2 mg/dL (normal 8.5 to 10.2).
Abdominal ultrasound did not reveal cholelithiasis or other pathology. On day 5, the symptoms completely resolved. A second abdominal ultrasound was unremarkable, while contrast-enhanced abdominal computed tomography (CT) revealed mild enlargement of the pancreatic head and stranding of the surrounding retroperitoneal fat (). Since then, the patient has returned to his usual activities.
Eight tissue samples, with an approximate diameter of 1 to 3 mm each, were analyzed. Histological examinations revealed mild inflammatory mucosal lesions of the ampulla and duodenum, with regional gastric metaplasia, regional epithelial hyperplasia, and mild nuclear stratification, which did not meet the diagnostic criteria for epithelial dysplasia.


A 56-year-old male presented status post assault with human bites to the tip of his nose, left ala, right ear and first digit of his left hand. He denied nasal obstruction and no facial fractures were associated. He denied of consciousness and reported no other trauma. Past medical history was significant for hypertension controlled with Lisinopril, diet and exercise. Patient denied tobacco and illicit drug use but reported occasional alcohol use. Physical exam revealed a well-developed, well-nourished adult Caucasian male in no acute distress. There was a 22 × 18 mm full thickness skin and subcutaneous tissue defect present on the nasal tip. The columella and left ala were similarly involved. The perichondrium and nasal cartilage remained intact and undamaged. Nasopharyngoscopy with a zero degree nasopharyngoscope revealed a slight right septal deviation without evidence of intranasal trauma, discharge or mucosal bleeding. Involvement of the patient's right auricular pinna was very superficial and treatment was deferred. No facial lacerations, bony abnormalities or palpatory tenderness was appreciated. Facial weakness and neurologic deficits were also no appreciated. Bilateral involvement of the hands and upper extremities also appeared very superficial and treatment was deferred.
Debridement of the nasal tip and adjacent structures was performed using standard sterile technique and local anesthesia. The defect measured 25 × 20 mm following debridement and the perichondrium and nasal cartilage was confirmed intact and without evidence of disease or injury. Dehydrated human amniotic membrane was fashioned to the dimensions of the defect and affixed to the wound. The allograft did not overly the native integument. Suture fixation was deferred. Sterile wet to dry dressing was applied and the patient was instructed to avoid recurrent trauma to, and washing of, the graft site. The patient was instructed to maintain a wet to dry dressing over the graft site at all times and to avoid displacement of the amniotic graft during dressing changes. Total procedure time was less than 20 minutes.
The patient returned on postoperative date #3 (POD #3) for wound check. The amniotic graft was undisturbed from initial placement and the wound bed was moist and clean. Patient provided wet to dry dressing changes continued for another 4 days at which time a simple bandage was applied. Again, the patient was instructed to avoid manipulation of the graft. Follow-up continued regularly at 10–14 day intervals for the duration of treatment. The wound remained clean and had no signs of infection during the healing period. No additional surgical or resurfacing procedures were required. The patient did not require medical assistance for wound care which included twice daily wet to dry dressing changes for 7 days postoperatively. Incorporation of the graft matrix at 7 days postoperatively was considered sufficient to defer further wet to dry dressing changes with conversion to simple bandage coverage with daily changes. Complete healing was noted at 3-month follow-up. Results demonstrated minimal nasal tip deviation and secondary scar contraction. Patient satisfaction was absolute and he denies any nasal obstruction.


A 61-year-old retired Caucasian male, presented with minor bleeding from a large, painless, right inguinoscrotal mass. The mass had been slowly growing over a 10–12 months period with intermittent episodes of bleeding from a central area of ulceration. He was able to pass urine and faeces normally and had not experienced haematuria. On admission, he reported associated increasing right leg swelling and 3 kg weight loss in the preceding 2–4 weeks. His past medical history was consistent with cryptorchidism that was repaired with a right orchidopexy at the age of 10 years. He had a 25 pack year tobacco smoking history and consumed minimal alcohol. He was a widower and lived alone, being otherwise fit and independent. On examination, a large, superficially necrotic, right inguinoscrotal mass was visible (Fig. a and b).
Subsequent contrast enhanced computed tomography (CT) of the abdomen and pelvis (Fig. a and b) revealed a large 21 × 17 x 17 cm3 predominantly solid, irregular mass centred on the right inguinal region extending into the scrotum with no pathological pelvic or retroperitoneal lymph nodes. The lesion was contiguous with the right external iliac nodes and a secondary left inguinal mass was noted, considered likely to represent nodal conglomerate. Tumour markers during admission measured AFP 6 μg/L, beta-HCG 67 IU/L and lactate dehydrogenase (LDH) 655 IU/L. An ultrasound-guided biopsy was performed, which was diagnostic of a seminoma (Fig. a and b). Following case discussion at the GCT multi-disciplinary team meeting it was concluded that treatment should include a chemotherapy-based regime for a PT4N3M0S2 testicular seminoma followed by surgery.
Prior to starting treatment he represented with another episode of bleeding from the mass, which was managed conservatively. CT thorax performed during this admission did not identify any metastatic lesions. He underwent four cycles of EP (Etoposide, Cisplatin) chemotherapy (BEP without bleomycin due to emphysema). A repeat CT abdomen and pelvis showed a good response to chemotherapy with a significant reduction in size of the inguinoscrotal mass to 10.3 × 6.4 cm with reduced bilateral inguinal lymphadenopathy and still no evidence of retroperitoneal lymphadenopathy (Fig. ). Tumour markers at this stage measured AFP = 6 μg/L, beta-HCG < 2 IU/L and LDH = 200 IU/L.
Post-chemotherapy he underwent a right inguinal orchidectomy, pelvic lymph node excision and skin flap. During the operation a right testicular mass was noted extending through the cord on to the external iliac vessels at the deep ring. The excision specimen showed no discrete scrotal structures and multiple nodules within the subcutaneous tissue (Fig. a and b). These nodules, demonstrated by immunostaining, were consistent with necrotic GCT. No viable tumour was seen.


A 26-year-old male patient with past medical history of schizoaffective disorder, hypertension, and dyslipidemia was brought to ED by his mother after she noticed swelling of his face and neck. According to his mother, patient was blowing into a water bottle with great force repeatedly for many times. Patient was under stress at work recently for about 5 days; he became irritable, agitated, and acting strangely like looking to ceiling, making some movement by his hands, and he was blowing into a bottle forcefully many times per day. Patient was not talking much but he denies cough, dyspnea, dysphagia, chest pain, palpitation, abdominal pain, nausea, excessive belching, vomiting, bowel problems, urinary problems, and suicidal or homicidal ideas. He has no previous medical history of lung diseases or any recent trauma. He denied any recreational drug use or smoking. Home medications include enalapril 2.5 mg per os daily and simvastatin 40 mg per os daily. According to his mother, he was not taking any psychiatric medications.
Initial vital signs included temperature 98°F, pulse rate 130 beats per minute, respiratory rate 23 breaths per minute, blood pressure 104/72 mm Hg, and oxygen saturation 98% on room air.
Head and neck examination was significant for facial swelling and diffuse crepitus on palpation around the neck without orbital swelling or lymph node enlargement. Respiratory examination revealed moderate crepitus to palpation in the upper anterior chest bilaterally extending to neck and up to distal arms bilaterally. His chest wall was not hyper-resonant to percussion. There was no stridor or rhonchi. Peripheral pulses were equal and symmetric bilaterally. The remaining examinations including cardiovascular, abdominal, and central nervous system examinations were within normal limits.
Laboratory test showed normal arterial blood gas. Complete blood count and basal metabolic profile were unremarkable. Electrocardiogram was normal except sinus tachycardia. An initial chest X-ray (CXR) revealed extensive subcutaneous emphysema in chest and neck (). Soft tissue neck computed tomography (CT) scan showed cervicofacial soft tissue emphysema contiguous with the pneumomediastinum. CT scan of head revealed normal brain with extensive parapharyngeal, retropharyngeal, and scalp soft tissue emphysema. CT scan of chest with intravenous contrast showed extensive bilateral soft tissue chest wall emphysema with pneumomediastinum (, , and ). Echocardiogram was within normal limits. CT scan of abdomen and pelvis revealed minimal punctate retroperitoneal air around left kidney without evidence of acute intra-abdominal pathology (). According to imaging studies, esophageal or tracheal rupture was ruled out.
Patient was managed conservatively in the intensive care unit with humidified oxygen 5 l/min via mask to facilitate clearance of SPM. Psychiatric medications were given to control his mood and psychotic behaviors. CT scan of chest 24 h later showed minimal improvement in SPM. CXRs were repeated daily and showed gradual improvement of subcutaneous emphysema and SPM. Patient's clinical condition continued to improve and he was discharged on day 7 of hospitalization. At a follow-up visit 2 weeks later, patient's symptoms improved and repeated CXR showed a normal chest with resolution of the previous subcutaneous emphysema and pneumomediastinum.


A 54-year-old male with a past medical history (PMH) of chronic hepatitis C and alcohol abuse with cirrhosis, stage III chronic kidney disease, and chronic hyponatremia was admitted to the hospital for acute on chronic hyponatremia, recurrence of ascites, and acute on chronic kidney disease. He was recently admitted for spontaneous bacterial peritonitis (SBP) and had been discharged with a peripherally inserted central catheter (PICC) line for 10 days of antibiotic therapy with ceftriaxone. Unfortunately, the patient returned 4 days after discharge when he was found to have acute on chronic hyponatremia on routine outpatient lab work.
At the time of readmission, ceftriaxone was resumed, and blood cultures were sent. Ascitic fluid analysis revealed total nucleated cells of 156, with 77% lymphocytes. Nephrology was consulted for his acute on chronic hyponatremia (sodium of 117 on admission with baseline being around 127), and he was placed on albumin and octreotide for possible hepatorenal syndrome. Due to frustration over his readmission, the patient left the hospital against medical advice. Within hours of discharge, the patient returned with worsening fatigue, and the initial blood cultures taken the day prior had resulted positive for yeast in both tubes, with speciation pending. With those results, the patient was started on micafungin for the fungemia.
Physical exam at this time was significant for ongoing ascites and an erythematous, macular, non-blanchable, non-pruritic, painful rash over the thighs. The combination of fungemia and rash raised concerns for disseminated candida. However, within 2 days, both tube cultures and the repeat blood cultures grew Cryptococcus neoformans and the patient's antibiotic regimen was switched to amphotericin B and flucytosine. There were also ongoing concerns of a related intracranial infection as the patient was more lethargic and complained of a headache. However, a lumbar puncture was not performed due to concurrent coagulopathy. There was a suspicion for disseminated intravascular coagulation as the patient had persistently low fibrinogen levels despite multiple units of fresh frozen plasma. Confirmatory testing for the serum cryptococcal antigen was also sent at this time, which reaffirmed the diagnosis of cryptococcemia. The peritoneal fluid with a lymphocytic predominance eventually grew cryptococcus confirming disseminated cryptococcosis.
During the hospital stay, the patient's kidney function progressively worsened. He was initially managed for hepatorenal syndrome with octreotide, midodrine, and albumin. After initiation of amphotericin B and flucytosine, the creatinine level rapidly worsened from 2.71 to 5.75. In the context of oliguria and worsening respiratory status, the patient was intubated, transferred to the intensive care unit, and urgent hemodialysis was initiated. Despite these changes, the patient continued to decline. The decision was made to transition the patient to comfort care measures based on his previously verbalized wishes in the context of worsening renal failure and underlying cirrhosis.


An 82-year-old Jewish woman, Ukrainian descendant, was referred to neuro-ophthalmology clinic for unexplained progressive visual loss over the past month with a significant deterioration in the last few days. The patients and her son denied any behavioral change or memory impairment at this point.
Medical history included hypertension and aortic valve replacement with bovine 19 mm bioprosthetic valve, performed 5 years before her current presentation.
On examination, her best-corrected visual acuity was 20/120 in the right eye and 20/200 in the left eye, pupillary reactions and eye movement were normal, and applanation tonometry was 11/11; after dilating the pupils, both eyes revealed nonsignificant cataract, normal optic disc and retina. Humphrey visual fields revealed complete right homonymous hemianopsia with bilateral macular involvement []. Brain magnetic resonance imaging (MRI) demonstrated diffuse atrophic and nonspecific white matter changes along with small cystic lesions and anatomical distortion at the basal ganglia level, no cortical pathology [].
One week later, the patient was admitted to the hospital due to memory impairment; repeated complete blood count, chemistry and rheumatologic panel were within normal limits. Electroencephalography (EEG) revealed diffuse slowing and periodic sharp wave discharges along with triphasic wave complexes []; repeated brain MRI and total body computed tomography showed no significant changes compared to previous studies; cerebrospinal fluid (CSF) revealed extremely elevated tau protein >1200 pg/ml compatible with CJD.
During her hospitalization, the patient developed rapid loss of short and long memory, disorientation, incontinence, and brisk reflexes. She was discharged home according to her family request and died 3 weeks later. Unfortunately, autopsy was not performed.


A 41-year-old man, with a history of pulmonary tuberculosis and with no family history of lymphoproliferative and autoimmune diseases, was taken to the emergency department and exhibited multiple cervical, axillary and inguinal lymph node enlargements, and epistaxis with more than a 6-month history. He had had an intermittent fever lasting for 4 months. There was no loss of weight or appetite, neither night sweats nor any other localising symptoms, namely pulmonary symptoms or signs. On physical examination, he had pallor, petechial and oral haemorrhagic bullae.


A three-year-old female patient was diagnosed with low-risk acute lymphoblastic leukaemia (ALL) in our pediatric hematology clinic, and her treatment was initiated according to the St. Jude Total XV chemotherapy protocol. A central venous catheter (CVC) was placed on the 5. day of her hospitalization. Neutropenic sepsis developed on the 5. day of her hospitalization while the patient was on chemotherapy. Blood culture was obtained from the patient, and the patient was put on 100 mg/kg of cefepime and 15 mg/kg of amikacin therapy. Growth of Gram-negative bacilli was observed in her blood culture, and the patient developed antibiotic-resistant fever. As a consequence, cefepime treatment was discontinued on day 2, and 120 mg/kg of meropenem treatment was started. Growth of meropenem-sensitive S. marcessens was observed in both CVC and peripheral blood cultures. On the third day of antibiotherapy, vesiculobullous rashes originating from the dorsum of the hand and abdomen developed which spred to the scalp the next day. The lesions were not itchy, and didn’t invade the mucosa.
A sample was tested for VZV IgM based on the resemblance of the lesions to those of a VZV infection, and acyclovir (30 mg/kg/d) treatment was started. After the 48th dose, the patient’s body temperature started to decrease, returning to a normal level during the follow-up period. Within 3-5 days rashes diminished and the patient fully recovered. When VZV IgM test results became negative, acyclovir treatment was discontinued. However, development of a necrotizing abscess in the gluteal region, and nodular skin lesions on the arms and legs necessitated maintenance of vancomycin (40 mg/kg) treatment. CVC was removed after S. marcessens growth on CVC samples was twice than that observed in the CVC blood culture. Amikacin, and meropenem were discontinued on day 19 after absence of bacterial growth in peripheral blood cultures. Nodular lesions on the arms and legs developed into abscesses, and growth of S. marcessens was observed in the wound cultures collected from these sites. The patient was started on meropenem treatment again, with local care and topical fucidic acid were applied to the abscesses. The skin lesions healed completely by day 20 after hospitalization, and chemotherapy was continued


A 9-month-old female patient was diagnosed with high-risk ALL at our pediatric hema-tology clinic, and started on the treatment according to the St. Jude Total XV chemotherapy protocol. A CVC was implanted on the 10th day of the hospitalization, and neutropenic sepsis developed on day 15. The patient was started on 60 mg/kg of piperacillin-tazobactam and 15 mg/kg of amikacin treatment. S. marcessens growth was observed in both CVC and peripheral blood cultures. Piperacillin-tazobactam treatment was discontinued 2 days after the patient presented with antibiotic-resistant fever, and 90 mg/kg of meropenem treatment was started.
On the third day of the treatment, vesicular lesions started to appear on the dorsum of the hand and the body, and spread to the scalp and across the entire body the next day (, ). The lesions were not itchy, and mucosal spread was not observed.
Given the resemblance of the lesions to those seen in VZV infections, a sample was sent to test for VZV IgM, and acyclovir (30 mg/kg/d)treatment was started. Her skin lesions diminished and healed within three days. Besides, the patient’s fever began to drop down on the second day of meropenem treatment. Acyclovir treatment was discontinued after negative VZV IgM test results were obtained. CVC catheter was removed after S. marcessens growth on catheter was twice than that observed in the blood culture. Meropenem treatment was discontinued on the 15. day of hospitalization at the time when microorganism growth in the peripheral blood culture was not observed, however chemotherapy was maintained.


A 68-year-old female patient presented to our emergency service with inability to pass gas and feces for 2 days, abdominal distension, and vomiting. Her personal medical history was unremarkable, without any previous disease or operation. This multipara patient was 155 cm tall, and weighed 40 kg. Her vital signs were as follows: ABP: 120/70 mmHg, pulse rate: 78/min, respiratory rate: 23/min, body temperature: 36.7°C. Physical examination revealed abdominal distension without abdominal guarding, and rebound tenderness. The rectal ampulla was empty on digital rectal examination. Other system examinations were unremarkable. Results of laboratory tests were as follows: Htc: 43.1%; WBC: 11700/mm3, glucose: 125 mg/dL, BUN: 61mg/dL, creatinine: 1.21 mg/dL, sodium: 135 mEq/L, potassium: 4.3 mEq/L. Standing KUB revealed air-fluid level of intestines (). On whole abdominal ultrasound, dilated intestinal loops, and free fluid between intestinal loops were detected. Computed tomography (CT) demonstrated obstructive obturator hernia on the left side (Figures , ). The patient was operated urgently with the diagnosis of intestinal obstruction caused by strangulated obturator hernia. On exploration, a strangulated intestinal loop was detected within the left obturator channel, and reduced. Intestinal ischemia, necrosis or perforation were not detected, so additional intervention was not performed. The defect was repaired using a polypropylene mesh placed in the preperitoneal region. The patient was lost on postoperative 3rd day because of acute respiratory failure.


A 2-day-old girl was transferred to our hospital with repetitive myoclonic movements and apnea. She was born at 41 weeks of gestation and her birth weight was 4.1 kg (90th–97th percentile). Mother is a Chinese and father is a Korean. Father denied any perinatal problems such as gestational diabetes mellitus, prolonged rupture of membrane, polyhydramnios or oligohydramnios. The patient was delivered vaginally and her Apgar scores were 9 at 1 minute and 10 at 5 minutes after birth, respectively. She was transferred to our hospital at 2 days of age because she presented frequent myoclonic movements of the upper and lower limbs and oxygen desturation around 70% after birth.
On admission, blood pressure was 69/41 mmHg, heart rate was 158 beats per minute, respiration rate was 50 breaths per minute and body temperature was 36.7℃. Weight was 3.8 kg (75th–90th percentile), length was 53.5 cm (90-95 percentile), head circumference was 34 cm (25th–50th percentile), chest circumference was 34.5 cm, and abdominal circumference was 35 cm. She had a symmetric appearance and did not have any congenital malformations.
She was lethargic and presented with hypotonic posture. Upon physical examination, she showed clear breathing sounds, regular heart beat and no cardiac murmur. She had a soft abdomen, active bowel sounds and no hepatosplenomegaly. After she was admitted, she displayed repetitive myoclonic movements of upper and lower limbs, apnea and oxygen desaturation. A blood sugar test (BST) was performed immediately and the result was 18 mg/dL. Eight milliliters of 10% dextrose solution was injected as a bolus and 10% dextrose solution was continuously infused with a glucose infusion rate (GIR) of 4.07 mg/kg/min. Phenobarbital was injected concomitantly. BST was performed every 30 minutes after the bolus infusion of dextrose. The GIR was increased up to 20.8 mg/kg/min steadily and bood sugar was elevated to 95 mg/dL. After the blood sugar level reached a normal range, she stopped experiencing myoclonic seizure and apnea.
Initial blood work showed a hemoglobin of 18.4 g/dL, hematocrit of 55%, a white blood cell count of 24,830/mm3, and a platelet count of 283,000/mm3. Serum blood glucose was 2 mg/dL on initial chemistry and the BST revealed a blood glucose of 18 mg/dL. Serum sodium level was 141.3 mmol/L, potassium was 5.1 mmol/L and chloride was 104.4 mmonl/L. Serum calcium was 8.8 mg/dL, bicarbonate was 19 mmol/L, and ammonia was 69 µg/dL (reference range, 19–87 µg/dL). C-reactive protein was 4.6 mg/dL (reference range, 0–5 mg/dL) and no bacterial growth was noted on blood culture. Laboratory findings showed no ketone bodies in serum and urine, insulin was 9.1 mIU/L (reference range, 2.0–25.0 mIU/L), and C-peptide was 5.96 ng/mL (reference range, 1.1–4.4 ng/mL) when serum glucose level was 13 mg/dL. The free fatty acids level was 124 µEq/L (reference range, 172–586 µEq/L).
Chest X-ray showed no ground glass opacity. On the second day in the hospital, brain magnetic resonance image with diffusion was performed because of repetitive seizures and apnea. High signal intense lesions in left parietal lobe, both occipital cortices, and subcortical white matter were observed (). On day 4 of hospital stay, abdominal ultrasonography was performed to determine the presence of any pancreatic lesions such as adenoma, but no pancreatic problems could be detected. Electroencephalogram showed some attenuation of the background and an echocardiogram showed a hypertrophied interventricular septum (5.9 mm, >97th percentile) and a left ventricular posterior wall (4–5 mm, upper normal limit) without obstruction of the left ventricular outflow tract. Computed tomography and positron emission tomography of the pancreas were not performed because of the risk of radiation exposure.
We fed her using Levin tube because she could not suck and swallow milk well on the 1st day of admission. When feeding volume reached to 150 mL/kg, blood glucose levels fluctuated between 31 to 162 mg/dL under the high intravenous GIR of 11.06–16.57 mg/kg/min. We started corticosteroid treatment but blood glucose was not stable. We prescribed diazoxide on day 10. However, blood glucose was still fluctuated with 20 mg/kg/day of diazoxide, so we added octreotide subcutaneously 21 days after being admitted ().
Full sequencing of the ABCC8 gene was performed because ABCC8 mutation is more prevalent than KCNJ11 in Korea. Genetic analysis revealed a new heterozygotic variation of c.4608G>A on exon 38 of ABCC8 (). On the basis of her clinical and laboratory findings, the variation seems to be a reason of her CHI.
After the genetic diagnosis, father wanted her to be transferred to other hospital when she was 24 days old. At that time, blood glucose was still fluctuating even though she was receiving diazoxide and octretide injections.
She has not visited our hospital after discharge, but we received a report on her clinical condition from a relative in Korea 3 years later. She is living in China and maintains a euglycemic state without medicine or surgery. She developed well but she has been suffering from intermittent seizures.


A 15-month-old Korean boy was referred to evaluate the cause of recurrent sinusitis and otitis media. He was born 2,700 g at 40 weeks of gestational age with normal-vaginal delivery, was well up to 6 months of age. After then, he had suffered from recurrent sinusitis and otitis media which failure to treat even though high-dose, oral amoxicillin therapy, consequently. The parent and older brother were healthy, but 2 maternal uncles were previously diagnosed as XLA at the adulthood ().
Physical examination showed normal growth and development, body weight was 10.6 kg (25th–50th percentile) and height was 77.2 cm (10th–25th percentile). There were no abnormal morphologic findings except absence of tonsil, purulent postnasal drip and palpable lymph-node. The fluid collection and cloudiness of the ear drum were observed.
Laboratory tests revealed as follows: white blood cells, 9,700/µL (neutrophils, 25.0%; lymphocyte, 63.8%); serum IgG, IgA, IgM and IgE levels were 151, 0, 11 mg/dL, and 54.7 KU/L; significantly decreased levels of CD19+ B cells in the peripheral blood (1.1%, 59/µL); the CD4/CD8 T-cell ratio was 2.7:1, respectively.
Radiologic examination showed normal finding in chest X-ray, however there was mucosal thickening in both maxillary sinuses and no adenoid shadow in paranasal sinuses views. Based on the family history of XLA, agammaglobulinemia and absent circulating-CD19+ B cells, and absence of adenoid and tonsil with recurrent sinusitis and otitis media, he was diagnosed as XLA. Mutational analysis for BTK gene of the proband and family members was performed to identify the underlying genetic defect. Informed consent was obtained before the start of the study. DNA was extracted from peripheral blood leukocytes. All coding exons with flanking intronic regions of the BTK gene were amplified using the polymerase chain reaction. Sequence chromatograms were compared with the reference sequence of BTK, NM_000061.2. As a result, the proband (III:2) was found to be hemizygous for a 1-bp deletion (c.82delC), which was predicted to result in frameshift at the 28th codon (Arg) and premature termination at the 5th downstream amino acid of the BTK protein (p.Arg28Alafs*5) (). A family study revealed that two maternal uncles (II:1 and II:2) were hemizygous patients and maternal grandmother (I:2), mother (II:4), and cousin (III:4) were heterozygous carriers for the same mutation.
After diagnosis of XLA, a scheduled Intravenous Immunoglobulin (IVIG) therapy (400 mg/kg, monthly) was started. The serum level of IgG was reached to target level (or therapeutic level) after 3rd dose of IVIG. The recurrent sinusitis and otitis media were not recurred during 8 months after diagnosis and treatment


A 26-year-old female patient admitted to our hospital with a complaint of headache. The neurological examination was completely normal. The patient's blood pressure was 230/160 mm Hg. The plain chest X-ray showed no abnormalities except dextrocardia []. We learnt that the patient's mother and sister were also diagnosed with SIT. Biochemical investigations for the aetiology of hypertension revealed a serum cortisol level of 17.06 mcg/dl (normal range: 6.7–22.6 mcg/dl), 5-hydroxyindoleacetic acid level was 4.7 mg/day (normal range: 2–10 mg/day). The urinary epinephrine level was 2.4 mcg/day (normal range: 4–20 mcg/day), whereas urinary norepinephrine level was high as 780 mcg/day (normal range: 92–604 mcg/day). Urinary vanillin-mandelic acid level was 8.63 mg/day (normal range: 0–1 mg/day).
Dehydroepiandrosterone sulphate level was 333.2 mcg/dL (normal range: 108–441 mcg/dL) and adrenocorticotropin level was <1.6 pg/mL (normal range: 0–46 pg/mL). The tumour markers (alpha-fetoprotein, Ca 125, carcinoembryonic antigen and Ca 19-9) demonstrated no abnormalities.
Abdominal computed tomography of the upper abdomen also confirmed situs inversus and revealed a regular and homogenous solid tumour in the right adrenal gland, measuring 18 mm × 20 mm []. A 18F-fluorodeoxyglucose (F18-FDG) positron emission tomography study was performed to further characterisation of the lesion which showed an increased FDG uptake, especially in the late sequences [].
The patient was scheduled for a laparoscopic adrenalectomy. Hypertension alleviated with alpha-adrenergic blockade and adequate hydration treatment maintained for 2 weeks preoperatively. After the completion of pre-operative assessments, the patient was operated laparoscopically.
Patient placed in the left lateral recumbent position under the general anaesthesia. The first incision was made at the anterior axillary line, 4 cm below the subcostal margin, which was 12 mm length and used for the camera after the insufflation of the abdomen with 12 mmHg CO2. In the exploration, the spleen was in the right subphrenic space, whereas the liver was in the left subphrenic space due to the situs inversus. Two ports of 10 mm in diameter were inserted below the right midclavicular line 3 fingerbreadths below the right costal margin, respectively. The descending colon dissected from the white line of the peritoneum and retracted medially. The splenophrenic, splenocolic and splenorenal ligaments are divided using electrocautery. The spleen and pancreatic tail are then rotated medially []. The peritoneal dissection is performed until the left renal vein is reached. The adrenal vein was divided after double clipping, and an adrenal tumour 30 mm × 20 mm × 18 mm in diameter was resected []. The operation time was 60 min, without any complications. The blood loss was estimated to be about 30 mL. After 4 days hospitalisation, the patient was discharged. After the surgery, the patient's hypertension was completely resolved.
The pathologic examination revealed a 3 cm, encapsulated, yellowish nodular lesion. Capsule integrity was preserved. High cellularity, tumour necrosis, invasion to surrounding tissues, tumour cell spindling and vascular or capsular invasion were not observed. Mitotic activity found to be low (<1/10 high power fields). Profound nuclear pleomorphism and hyperchromasia were present in focal area. While cytoplasmic staining with synaptophysin was positive; staining with chromogranin, CK and claret were negative in immunohistochemical evaluation. Phaeochromocytoma of the adrenal gland scaled score was 2/20. The tumour was morphologically found compatible with phaeochromocytoma that behaves in a benign fashion.


A 57-year-old female with rectal cancer successfully treated with chemotherapy and radiation over a year ago, renal cell cancer with subsequent nephrectomy and ESRD from lupus nephritis, and on PD since 2014 presented to an outside hospital with melena. She underwent colonoscopy and endoscopy that revealed a clean-based duodenal ulcer that was treated with twice daily intravenous pantoprazole. Several days later, she presented with another gastrointestinal bleed requiring repeat upper endoscopy and subsequently angiogram and coil embolization of the gastroduodenal artery. PD treatments were withheld and she received hemodialysis treatments via her arteriovenous fistula during this hospitalization. She had not received prophylactic antibiotics to prevent peritonitis prior to these procedures. In the interim, she was diagnosed with Clostridium difficile diarrhea, which was treated with oral vancomycin.
Following her second endoscopy, she developed diffuse abdominal pain and became febrile to 100.6°F. Her abdomen was soft but diffusely tender. Peritonitis was suspected and her peritoneal fluid effluent was drawn for analysis (Table ). Gram stain of the peritoneal fluid revealed gram-positive cocci, and cultures grew gram-positive micrococcus and Candida tropicalis. Intravenous vancomycin and oral fluconazole were initiated. Final culture growth revealed the CDC group EO-4 organism, which was susceptible to levofloxacin. She was switched to levofloxacin to complete a total of 2 weeks of antibiotics. She was discharged home on PD and was readmitted 1 day later for hematochezia. She continued to have abdominal cramps unchanged in severity from before, but bleeding scan followed by a third endoscopy remained negative.
She was then transferred to our institution for further evaluation and consideration for double-balloon enteroscopy. Upon arrival, her vital signs were stable: blood pressure 122/75 mm Hg, heart rate 85, temperature 97.6°F. Cardiac examination was benign and lungs were clear to auscultation. Her abdominal examination revealed an intact PD catheter exit site without erythema or exudate, a diffusely tender abdomen without rebound or guarding, no lower extremity edema, and the left upper extremity revealed a brachiocephalic arteriovenous fistula with bruit. Laboratory values were as follows: hemoglobin 10.8 g/dL, white blood cell count 4.2 × 109/L, platelet count 110 × 109/L, normal transaminases, alkaline phosphatase 245 IU/L, total bilirubin 0.3 mg/dL, serum albumin 1.3 g/dL, and serum lactate level 0.8 mmol/L. Serum coagulation studies were normal. Serum electrolytes revealed a bicarbonate level of 25 mmol/L, potassium 3.4 mmol/L, BUN 15 mg/dL, and creatinine 6.9 mg/dL. Urinalysis was benign with only 4 white cells/HPF and negative leukocyte esterase and nitrite. Clostridium difficile toxin was negative. Serum lipase was normal at 6 U/L. Peritoneal fluid cell count and culture was repeated at our institution (Table ). Abdominal CT with oral and intravenous contrast revealed wall thickening in the right colon extending to the proximal portion of the transverse colon compatible with regional colitis. There was a moderate amount of ascites related to PD. The PD catheter entered the right lower quadrant and coiled in the right lower quadrant. There was an abdominal wall fluid collection around the insertion of the PD catheter. Capsule endoscopy was unrevealing.
Given multiple gastrointestinal procedures, recent C. difficile infection which had been adequately treated, and incomplete treatment for a recent fungal peritonitis, her persistent abdominal pain was attributed to intractable catheter-related fungal peritonitis. Surgical catheter removal was performed and she was switched to hemodialysis. Catheter tip culture grew C. tropicalis. The fungal peritonitis was treated with oral fluconazole for 2 months. Her abdominal pain improved and she was discharged home.