A 45-year-old male with no previous cardiac disease and unremarkable familial history was admitted due to recurrent hour-lasting episodes of chest pain that was caused by wide QRS tachycardia that required DC cardioversion.
Upon admission patient was oriented, in no acute distress, well developed, and well nourished (body mass index 30 kg/m2). He denied smoking, alcohol abuse, and illicit drug use. Physical examination revealed hyperhidrosis. Patient's axillar temperature was 36.4°C (97.5°F), blood pressure was 110/80 mmHg on both arms, pulse was 86 bpm with a regular rhythm, and respiratory rate was 18 breaths/min. Chest and abdomen investigation was unremarkable. Extremities were warm and well perfused, with normal range of motion and no edema. Slight binocular ptosis and moderate peripheral muscle weakness were noted. Patient had no severe cognitive defects.
Clinical blood, thyroid, and coagulogic profiles were normal. Biochemistry panel revealed hyperlipidemia (total cholesterol 6.5 mmol/L [253 mg/dL], LDL-cholesterol 3.8 mmol/L [148.3 mg/dL]), and modestly elevated creatine kinase 347 U/L. Troponin test was negative. HbA1c level was 6.1%. BNP level was less than 10 pg/mL.
ECG at rest displayed sinus rhythm (95 bpm), PQ (200 ms), QRS (120 ms), and single premature ventricular complexes (). 24-hour ECG monitoring registered 524 single premature ventricular beats with no significant sustained arrhythmias and pauses. Echocardiography revealed asymmetric nonobstructive hypertrophy of ventricular septum (up to 16 mm in basal segment) with preserved LVEF, no wall motion abnormalities, and enlarged LA (4.4 cm; volume 90 mL).
Cardiac MRI demonstrated areas of subendocardial late gadolinium enhancement in septal, inferior, and lateral walls of LV, indicating focal fibrosis (). Although subendocardial accumulation is typical for ischemic lesions, coronary angiography revealed intact arteries.
Electrophysiologic study showed delayed conduction in His-Purkinje system (HPS). HV interval duration was 74 ms (). Right ventricle pacing repeatedly induced bundle branch reentrant VT with a rate of 250 bpm and RBBB morphology with anterograde conduction over RBB and retrograde conduction over LBB (). All episodes of VT very successfully terminated by burst pacing. Considering structural heart disease and HPS involvement the decision was to refrain from radiofrequency ablation (RFA) and to implant 2-chamber ICD.
Brain MRI prior to implantation showed multiple vascular lesions in white matter and anterior temporal lobe hyperintensities on T2-weighted and FLAIR images ().
Patient was discharged on Bisoprolol 7.5 mg OD and referred to neurological center for further investigation where diagnosis of myotonic dystrophy (MD) was confirmed by electromyography. Genetic test revealed multiple CTG repeats in DMPK gene.
A 10-month follow-up was remarkable for significant progression of neuromuscular symptoms. However there were no signs of heart disease progression on ECG and echocardiography. ICD telemetry showed 4 appropriate shocks delivered to one episode of fast VT and multiple long-lasting episodes of Afib with mean ventricular rate of 86 bpm that were asymptomatic and diagnosed only at ICD interrogation. Considering hypertrophic cardiomyopathy anticoagulant therapy by rivaroxaban 20 mg OD was initiated.
We desired to refrain from RFA procedure again. ICD was reprogrammed to more aggressive antitachycardial pacing by addition of 4 extra burst pacing packs of shorter cycle length. In subsequent 8-month follow-up there were 3 sustained fast VT detections. All of them were terminated by burst pacing and were asymptomatic.


A 26-year-old male admitted to the emergency department with a new-onset chest pain for
two days. His physical examination was unremarkable. Electrocardiogram (ECG) showed
biphasic T wave changes in leads V2-4(). The patient had a history of warfarin use for 6 months due to a deep vein
thrombosis (DVT) suffered 2 years before. Bedside echocardiogram revealed slight
hypokinesis of anterior wall with an ejection fraction of 52%. In laboratory analysis,
creatinine kinase-MB and troponin-I levels were slightly elevated (32 ng/ml and 0.44
ng/ml, respectively). The patient was transferred to the coronary care unit with the
diagnosis of non-ST segment elevation myocardial infarction. Coronary angiogram revealed
multiple segmentary thrombotic foci along the left anterior descending (LAD) artery with
Thrombolysis In Myocardial Infarction (TIMI)-III flow and normal circumflex and right
coronary arteries (, ). Manual thrombus aspiration or thrombectomy device were not
considered because of the widespread nature of thrombosis throughout LAD. Initially,
intracoronary tirofiban at a 10-µg/kg dose was given in 3 minutes, followed by
0.15 µg/kg/min intravenous infusion for 24 hours in addition to subcutaneous
enoxaparin. Control angiogram revealed slight improvement (, ). Then the
patient was started on rivaroxaban 20 mg daily, for 8 weeks and control angiogram
revealed complete resolution of the thrombus (, and ). Meanwhile, thrombophilia work up resulted in prothrombin gene
mutation (homozygous, G20210A) and homozygous mutation in plasminogen activator
inhibitor type 1 (PAI-1) gene [4G/4G]. The patient also had a lupus anticoagulant at the
time of initial presentation but did not have anti-cardiolipin antibodies or anti-beta2
glycoprotein-I antibodies. Also, his lupus anticoagulant was negative.


A 55-year-old male was admitted to the orthopaedics and traumatology clinic with a 3-month history of severe pain in the right femur extending to the right leg. His medical history was insignificant. On physical examination, the patient's right leg was tender to palpation, particularly in the area of the proximal femur, and there was limited range of motion of the right hip. Blood count was as follows: haemoglobin: 13 g/dL, total leukocyte count: 6030/mm3 (neutrophil 58%, lymphocyte 34%), and platelet: 267000/mm3. Biochemical tests showed increased erythrocyte sedimentation rate (ESR) of 50 mm/h and hypergammaglobulinemia (gamma globulin 1.56 g/dL); lactate dehydrogenase (LDH) was normal. Anteroposterior radiographs of both femurs revealed mixed lytic-sclerotic lesions (Figures and ) and a lytic destructive process with eccentric localization and a narrow zone of transition at diaphysis of left femur extending to left subtrochanteric region (). On MRI scan, multiple hypointense metastatic bone lesions on T1-weighted coronal imaging and hyperintense metastatic lesions on T2-weighted coronal imaging dominantly located in both femoral heads, necks, and trochanters with largest of diameter 2 cm were present (Figures and ). Abdominal MRI on T1-weighted axial imaging revealed a 1 cm wide heterogeneous metastatic lesion at left side of posterior L2 and L3 vertebrae corpus (). Histopathological examination of the biopsy from right femoral lesion showed diffuse neoplastic infiltration consisting of cells with round, oval, regular nuclei, and medium-sized, clear cytoplasm (). Neoplastic cells expressed CD20, LCA, CD79 alpha, tartrate-resistant acid phosphatase (TRAP), CD11c, CD68, and annexin (). BRAF V600E mutation was positive. Diagnosed with HCL, the patient was referred to our hematology department. Blood smear showed 54% neutrophils, 40% lymphocytes, and 6% monocytes. Lymphocytes appeared normal. Bilateral bone marrow aspirates revealed normal bone marrow elements with no hairy cells. Flow cytometry performed on bilateral bone marrow aspirates revealed no abnormal clone of lymphoid cells or aberrant antigen expression. Bilateral bone marrow trephine biopsies showed a normocellular bone marrow with no abnormal infiltrates. On PET scan, there was increased FDG uptake on lateral sides of right 2nd and 3rd ribs, posterior sides of right 9th and 10th ribs, lateral sides of left 2nd, 5th, 6th, and 7th ribs, corpus sterni, corpus of D1, D5, D6, L1, and L2 vertebrae, spinous processes of D12, L3, and L4 vertebrae, right pedicle of C6 and D11 vertebrae, both femoral heads, necks and diaphyseal regions, sacrum, and pelvic bones (). Patient underwent radiotherapy to bilateral proximal femur at a dose of 20 Gy and obtained a complete clinical response with resolution of pain. Four weeks after completion of radiotherapy, a 7-day course of 0.1 mg/kg/day cladribine was administered. Follow-up PET scan performed 8 weeks after chemotherapy showed marked metabolic response with decrease in uptake of multiple metastatic lesions on both proximal humeri, right lamina of C6 vertebrae, and both first ribs (). Repeat PET scan 12 months after chemotherapy showed complete recovery of skeletal disease with no evidence of residual enhancement suggestive of disease. There is no sign of disease recurrence 14 months after completion of chemotherapy.


A 74 year old European female patient approached her dentist due to pain in the right lower jaw. A panoramic X-ray was performed, presenting an osteolysis of unknown origin in the mandible on both sides, right more than left (Fig. ). The patient was then referred to the clinic of cranio-maxillo-facial surgery for further evaluation. She reported pain in the area of the right angle of the mandible for several months; additionally, pain in the right calcaneus and in both forearms has been noted. She denied fever and weight loss, but reported cough and dyspnoea on exertion. Furthermore, a sicca-symptomatic in both eyes and the oral cavity was present. The patient was diagnosed with hypertensive cardiac disease, rhytmogene cardiopathy, hyperlipidaemia, cutaneous psoriasis with psoriasis arthritis, and lumbar vertebral syndrome several years before. Her home medication included pantoprazol, candesartane, acetylsalicylate, spironolactone, and simvastatine.
At the day of first presentation there were no signs for locale infection on the oral and extraoral examination, and no palpable lymph nodes in the cervical region. Only the tooth 47 showed percussion sensitivity and was not sensitive to cold. There were no abnormal laboratory findings, specifically normal C-reactive protein, serum calcium and alkaline phosphatase.
A computed tomography with 3D reconstruction of the osteolysis was performed. The radiography showed loosening of cancellous bone with extension of the mandibular canal and partially interrupted cortical bone on the right side. The findings were suspicious for osteomyelitis or a malignant lesion. Additional Single Photon Emission Computed Tomography (SPECT-CT) examination was completed presenting increased bone metabolism in the area of the vertex and the jaw angles of both sides, right more than left (Fig. ). Further increased metabolism was detected in both forearms and in the right calcaneus. A biopsy of the alveolar process of the lower jaw was carried out for further investigation of the unknown osteolysis together with the removal of the second lower molar (Fig. ). Histology revealed chronic granulomatous inflammation with non-caseating epitheloid granuloma, consistent with sarcoidosis. Ziehl-Neelsen’s staining was negative and mycobacterial culture showed no growth. Fungal and other bacterial infections were excluded. To confirm the suspicion of sarcoidosis further examinations were initiated: The CT-Scan of the lung showed enlarged intrathoracic lymph nodes, and pulmonary function testing revealed a restriction of diffusion capacity of carbon monoxide. Based on a recently developed vertigo a MRI scan of the brain and the spinal cord was performed, showing a suspicious lesion in the area of the vertex compatible with neuro-sarcoidosis. Levels of interleukin-2-receptor and angiotensin-converting enzyme were in the range of normal. Finally, biopsy of an additional skin lesion in the area of the medial canthus of the left eye histologically confirmed the diagnosis of sarcoidosis.
Due to relevant multi-organ disease with symptomatic bone involvement and strong suspicion of neuro-sarcoidosis immunosuppressive therapy with azathioprine was installed. A follow-up SPECT-CT scan after six months of treatment revealed regressive bone metabolism of all previously described lesions, and no new lesions were detected. The patient was free of pain and the immunosuppressive treatment was well tolerated.
A couple of differential diagnosis should be considered when evaluating intrabony lesions of the jaws, in particular of the lower jaw: osteomyelitis, metastatic tumors, multiple myeloma, Langerhans histiocytosis. All these findings may present a similar radiographic image and could be confounded with a sarcoidotic lesion and had therefore to be considered in our patient.
There are a few cases in literature reporting sarcoidosis with manifestation in the lower jaw. Monasebian et al. described the diagnosis of sarcoidosis by means of a recurrent swelling of the chin in 1997 []. Swelling followed by tenderness were the first clinical signs of systemic sarcoidosis. The lesion was excised and histologically investigated. It showed a florid granulomatous inflammation. Suresh et al. presented a case where the bone lesion in the lower jaw occurred one year after sarcoidosis was diagnosed []. Here, loose teeth were the consequence of the destroyed bone by osteolysis. Authors postulated not to confound this clinical sign with an aggressive periodontitis. A different case was reported by Grimaldi et al. []. They revealed that the first sign of sarcoidosis was a fistula in the area of the lower left canine. The panoramic X-ray showed an intra-bony lesion within the correspondent area. However, the tooth was not mobile and there were no other clinical signs.
Our case differs from aforementioned studies as it began with an osteolysis of unknown origin in the mandible on both sides. To our knowledge there is no scientific literature about the onset of sarcoidosis on the lower jaw.
Systematic signs could be even missed in some cases. This fact may not lead astray. We suggest considering a chronic granulomatous disease in cases of intra-bony lesions. Each obscure bone lesion has to be biopsied to get the accurate diagnosis followed by the adequate therapy.


A 54-year-old male with a past medical history of hypertension presented with a ten-day history of severe bilateral lower abdominal pain radiating to his back. He reported a twenty-pound weight loss over the past six months. Upon presentation, he was afebrile and his vital signs were stable. On exam, the abdomen was diffusely tender to palpation and bowel sounds were normal with no peritoneal signs. A CT abdomen/pelvis showed multiple hepatic and ascending colonic lesions, with pericolonic fat infiltration and periportal lymphadenopathy. On day two of admission, an ultrasound guided liver biopsy was performed and pathology showed metastatic adenocarcinoma consistent with primary colonic malignancy. Patient underwent staging with a chest CT, which was negative for metastatic disease. On day three of admission, the patient became hypotensive with a blood pressure (BP) of 105/62 mmHg which was thought to be secondary to pain medications and responded well to fluid resuscitation. Subsequently, patient's lab values revealed an elevated creatinine (Cr) of 2.6 mg/dL, which was believed to be due to acute tubular necrosis secondary to hypotensive episodes. On day five of admission, the patient was persistently hypotensive with a BP of 100/60 mmHg, which did not respond to intravenous (IV) fluid resuscitation, and he was transferred to the intensive care unit to initiate therapy with vasopressors. Peripheral blood cultures were drawn, and the patient was empirically started on IV piperacillin/tazobactam 3.375 g every 6 hours and metronidazole 500 mg every 8 hours as per Infectious Disease recommendations. His lab values revealed leukocytosis of 16.4 K/μL, creatinine of 4.1 mg/dL, total bilirubin of 3.3 mg/dL, AST of 407 U/L, ALT of 90 U/L, alkaline phosphatase of 259 U/L, and lactic acid of 4.1 mmom/L. Final blood cultures were positive for C. septicum; no anaerobic susceptibilities are performed at our hospital. The patient was continued on the initial broad-spectrum antibiotic regimen of IV piperacillin/tazobactam and metronidazole for a planned 14-day treatment. Repeat CT of abdomen/pelvis showed gas collections in the liver, peritoneum (Figures and ), multiple soft tissue, and bone (Figures and ), areas suggestive of clostridial gas gangrene. Lab work indicated worsening liver and kidney functions and the patient developed multiorgan failure. Upon discussion with the patient's family, the decision was made for comfort measures only. The patient expired on hospital day 13.


A 50-year-old Iranian male referred to our clinic with complaint of chronic diarrhea, which lasted since three years ago. The diarrhea wasn’t related to food consumption and had not even obviated by previous fasten diets. This chronic watery diarrhea was not accompanied with any blood, mucosa, fat or oil and happened at least ten times a day and sometimes occurred at night and did not obviate by colestiramina, loperamide, bismuth or other frequent antibiotic medications. Furthermore, the patient had fatigue, but denied any fever, abdominal pain, nausea or vomiting during. The patient did not have any history of celiac disease, cancers or polyposis syndromes in his family. The physical examination of the patient revealed alopecia and hair loss which occurred on the scalp, eyebrows, eyelashes, axilla, and limbs (), as well as hyperpigmentation of the hands and feet () accompany with onychodystrophia of the fingernails (), which had been started three years before the admission, simultaneously with severe diarrhea.
Abdominal examination was normal and the rest of the physical examination was not promising. Laboratory test revealed that his total count of white blood cell (WBC) was 4900/μL (normal 4-10×103/μl), red blood cell (RBC) was 5.48×106/μL (4.5-5.8×106/μL), platelet was 295×106 /μL (150-450×106), and Hb was 16.1 gr/dl (normal 14-17 gr/dl). C-reactive protein (CRP) was negative. According to the result, hemoglobin, glucose, platelets, urea, transaminases, alcaline phosphatase, creatinine, bilirubin, triglycerides, cholesterol, folic acid, and ferritin were all in a normal range ().
The patient underwent Gastroscopy and esophagus, gastric fundus and body were normal. Colonoscopy was performed and one hamartomatous polyp was detected at rectum. During the procedure the biopsy was taken and the serological tests, including anti-tissue transglutaminase (tTG) antibodies and Anti EMA-IgA were done for possible presentation of celiac in this case. The immunoglobulin A (IgA) was 197 Mg/dl, which was also in the normal range (70-400 Mg/dl).
Based on alopecia and hair loss, hyperpigmentation of the hands and fingers with onychodystrophia of the fingernails, severe diarrhea, and detection of hamartomatous polyp in rectum the case was considered as Cronkhite Canada syndrome. Patient treated by administration of antibiotics and anti-inflammatory medication with 20mg of prednisolone a day, which tapered after 4 weeks to 5 mg once which resulted in significant rapid improvement in reduction of the severity of the watery diarrhea.


A 25-year-old morbidly obese male underwent bariatric surgery 3 months prior to presentation. In the week preceding his presentation to an outside hospital, he had increased his intake of ondansetron 4 mg tablets up to 40 tablets/day because of intractable nausea and vomiting. He was initially hospitalized for a progressively worsening headache of 1 week duration. Initial computed tomography (CT) revealed bilateral cerebral edema in the parietal and occipital lobes in the setting of elevated blood pressure (BP). However, 3 days into his admission, following initial improvement in his blood pressure with oral anti-hypertensive medication, but in the setting of continued use of the ondansetron, he developed sudden onset near complete blindness with inability to count fingers from one foot away but bare light perception. His blood pressure was measured as 190/110. Computed tomography (CT) head imaging revealed similar cerebral edema in the posterior cortex but new intra-parenchymal hemorrhage (Fig. ). The patient was transferred to the intensive care unit (ICU) of our institution but despite supportive treatment, his condition worsened while CT imaging findings remained unchanged. No angiography was obtained, as it was felt to likely be inconclusive in the setting of massive hemorrhage. A CT venogram demonstrated no evidence of venous sinus thrombosis. Invasive intracranial monitoring with a Licox® monitor revealed variable to elevated intracranial pressure (ICP) ranging from 10 to 50 mm Hg. The patient was aggressively treated with hyperosmolar therapies and other supportive measures. He stabilized and after a protracted hospitalization was eventually discharged to rehabilitation. At the 12 week follow-up, he was noted to be independent in most of his activities of daily living. He was, however, left with significant visual impairment, leaving him only with the ability to count fingers in central vision, and only detect movement in his right visual fields. Follow-up CT of the head without contrast was obtained at that time, (Fig. ) revealing resolution of the hematomas.


On January 5th, 2014, a 2-year-old boy with JMML was presented to the pediatric hematology and oncology department for abnormal hemogram lasting for two months. Then, he was admitted to the hospital and discharged 8 days later after completing the Human Leukocyte Antigens (HLA) matching (Fig. ). Subsequently, he continued with chemotherapy and outpatient medications, including mercaptopurine, prednisone, and 13-cis-retinoid acid (isotretinoin).
On June 5th, 2014, the patient returned to the hospital for preparation before HSCT. His vital signs were normal, and physical examination was unremarkable except some discrete old rashes on skin (Fig. ). The result of hospital laboratory examinations was also normal. Since June 10th, patient started to receive a myeloablative conditioning regimen [busulfan (BU) 1.2 mg/kg iv. q6h for 4 days, cyclophosphamide (CTX) 50 mg/kg iv. qd for 4 days and anti-thymocyte globulin (ATG) 3.3 mg/kg iv. qd for 3 days]. However, the patient suffered from fever (up to 39.8 °C) with mild cough and running nose since June 15th, indicating respiratory infection. Subsequently, clinical examinations were performed to analyze the possible cause. The blood/marrow culture were negative. The number of his peripheral white blood cells and neutrophils was 7500 and 2450 per cubic millimeter, respectively. The C-reactive protein (CRP) was above 200 mg per liter (normal range, 0 to 5 mg per liter). The procalcitonin (PCT) was 0.15 ng per milliliter (normal range, 0 to 0.1 ng per milliliter). The G test which was target for broad spectrum dectection of fungal infection was 20.6 pg per milliliter (normal range, 0 to 20 pg per milliliter). All these results from assays of serum liver-enzyme, usea nitrogen, creatinine, electrolyte and pathogen specific antigen were within range of normal value. However, the result of chest X-ray showed increased lung-markings. Consequently, the patient was treated with meropenenm (MEM) targeted for gram-negative and other refractory bacteria, and vancomycin (VANC) targeted for gram-positive cocci. Meanwhile, antifungal agent caspofungin acetate (CAS) and antiviral agent acyclovir (ACV) were also administered as prophylaxis (Fig. ).
The patient underwent the cord blood transplantation and HSCT (the donor was his mother) on June 20th and 21th, respectively. From June 15th to June 24th, patient’s body temperature dropped to 38.5 °C from 40.5 °C, then rose to 40.3 °C again (Fig. ). Meanwhile, CRP dropped to 8.5 mg per liter (normal range, 0 to 5 mg per liter).
Although treatments had been performed regularly, his symptoms of fever, chills and cough still didn’t lighten. Physical examination showed some previous discrete rashes and coarse lung sounds. CRP was 119.2 mg per liter (normal range, 0 to 5 mg per liter). MEM and VANC almost had no effect on the clinical symptoms. Then, his primary care physician decided to switch drugs to linezolid (LZD) against gram-positive cocci, tobramycin (TOB) against gram-negative bacteria for a week, and voriconazole for fungal prophylaxis (Fig. ).
During this period, patient also experienced anemia and thrombocytopenia occasionally. After transfusion of washed red blood cells and platelets for skin bleeding, the number of his hemoglobin and platelets returned to normal. During the next two weeks, he still presented with fever, mild expectoration and some discrete old rashes, suggesting the possibility of tuberculosis bacillus infection. Considering the medication safety, the doctor stopped using TOB and LZD, and changed to use the rifampicin (RFP) and fusidic acid against gram-positive bacteria and tazocin against drug-resistance gram-negative bacteria (Fig. ). On July 13th, lumber puncture was performed to collect cerebrospinal fluid (CSF) for tubercle bacillus detection, but no positive results were obtained by culture and PCR based methods. After a week, the computed tomography (CT) of chest showed pneumonia in the posterior basal segment of the lower lobe of right lung (Fig. ), and CRP became 0.2 mg per liter (normal range, 0 to 5 mg per liter), but his body temperature still fluctuated between 37.7 °C and 39 °C. Finally, we got the informed consent of patient’s mother on behalf of the patient for detecting potential pathogens based on NGS technology (Fig. ).
Within 43 h after collecting patient’s blood, we finished the detection of pathogens, identifying 22,123 (out of 2,602,891) sequence reads (0.8499 %) uniquely corresponding to Propionibacterium acnes (P. acnes, G
) genome. P. acnes accounted for a very high proportion in detectable microorganisms and possessed a high coverage of genome, which was also significantly higher than control (Fig. ). This result was re-confirmed by the NGS detection and species specific real-time PCR (RT-PCR). Based on the result, the primary care physician turned to adopt specific drugs for treatment of P. acnes infection immediately, including VANC, ciprofloxacin (CPFX) and amikacin (AMK) against gram-positive bacteria, CAS and ACV for prophylaxis of fungal and virus infections.
Over the next 5 days, the patient gradually recovered with his body temperature returning to normal range and his old rash fading (Fig. ). However, other complications still persisted, such as the graft versus host disease (GVHD).


The patient was a 65-year-old woman who had undergone surgery at 19 years of age for appendicitis. Her medical history was otherwise unremarkable. Starting 3 years prior to the current presentation, the patient had gradually developed a gait disturbance, for which she consulted a local orthopedic surgery department, and upon diagnosis of knee osteoarthrosis received conservative therapy. At approximately 1 week before admissions, she had begun to experience loss of appetite and vomiting, and consulted a local physician. On suspicion of gastrointestinal disease, a thorough examination of the gastrointestinal tract was performed, but no organic disease was identified. Although the loss of appetite and vomiting resolved spontaneously, the gait disturbance gradually worsened, and magnetic resonance imaging (MRI) of the head revealed ventricular enlargement. The patient was thus referred to our department for suspected iNPH related to the gait disturbance.
Her height of 148.3 cm, weight of 54.4 kg, and body mass index of 24.8 were all within standard ranges. There was no medical history that could have led to secondary hydrocephalus. There were no abnormalities in vital signs with body temperature 36 °C, blood pressure 110/63 mm/Hg, and heart rate 83 beats per minute. Although the patient’s consciousness was clear, 15 on the Glasgow Coma Scale (GCS), and there was no muscle weakness, she walked with her legs apart in short quick steps, and required a walking aid. While muscle tonus was normal, the patient complained of mild pain when extending the knee. As to higher order brain functions, mini mental state examination (MMSE) results were 24/30, and the frontal assessment battery (FAB) results were 9/18. Blood test findings at the time of admission were within normal range apart from mild hypoalbuminemia (total protein 4.6 g/dL, albumin 2.7 g/dL, total cholesterol 147 mg/dL, and LDL cholesterol 100 mg/dL), and elevated thyroid free T3 (TSH 4.333 μIU/mL, free T3 3.78 pg/mL, free T4 1.16 ng/dL). There were no blood-sugar or electrolyte (Na 140 mmol/L, Cl 106 mmol/, K 4.1 mmol/L, serum glucose 73 mg/dL) abnormalities. Head MRI revealed enlargement of all cerebral ventricles, with an Evan’s index of 0.4, and the Sylvian fissure appeared wide open consistent with iNPH. However, the specific feature of narrowing of the sulci at the high convexity area was not obvious (Fig. ). Single-photon emission computed tomography revealed reduced cerebral blood flow (CBF) surrounding the Sylvian fissure, with relatively increased CBF in the convexity, which was consistent with the pattern for iNPH (Fig. ). Findings for the sulci at the high convexity area were inconsistent with typical iNPH, however, and we thus reconsidered the possibility of other diseases that may have caused the gait disturbance.
Detailed tests were ultimately performed after hospital admission including a spinal tap. Following admission, the patient gradually became less active, and tended to stay in bed. Re-examination revealed blood sugar levels of 40 mg/dL and systolic blood pressure of 90 mm/Hg. On suspicion of impaired anterior pituitary function, scans were performed of the pituitary in the diencephalon, and baseline pituitary hormone levels were verified. The spinal tap results were negative. On MRI, pituitary gland was normal measuring 12 mm in maximum diameter with no enlargement or deviation of stalk, and there were no neoplastic lesions, inflammatory lesions in the pituitary area of the diencephalon, or changes suggesting that surgery had been performed in all sequences including contrast-enhanced dynamic images (Fig. ). Table presents baseline hormone levels, and Table the results of the anterior pituitary gland hormone loading test using corticotrophin releasing hormone, thyrotropin releasing hormone, luteinizing hormone releasing hormone, and growth hormone releasing hormone. Pituitary hormone results included ACTH <1.0 pg/ml (normal range: 7.2–63.3), and cortisol levels <1.0 μ/dL (normal range: 4.0–18.3), indicating pituitary adrenal insufficiency. There were no decreases in other hormone levels, with relatively mild elevations of growth hormone, prolactin and free T3 levels. We checked carefully again the medical history of the patient, but there were no recent history of exogenous glucocorticoid treatment. An additional pituitary stimulation test was performed, in which ACTH and cortisol responses only were found to have disappeared, and isolated ACTH deficiency was thus diagnosed (Fig. ). After initiation of hydrocortisone supplements, her gait quickly improved. While observing the clinical symptoms, hydrocortisone (Cortril ®) was adjusted to a daily dose of 15 mg, and after instructing the patient as to how to respond on sick days, she was discharged to return home. At approximately 6 months after discharge, although the ventricular enlargement on MRI was same as before, the patient scored 27/30 points on the MMSE and 15/18 points on the FAB.


A 58-year-old nonobese (body mass index [BMI] 24 kg/m2) African American male with history of chronic HCV (genotype 1b) and HIV presented to the emergency room with polyuria, polydipsia, and fatigue for 2 weeks duration. Laboratory analysis indicated elevated plasma glucose of 764 mg/dL with an anion gap of 12. He did not have known diabetes mellitus in the past and there was no family history of diabetes. History was significant for recent addition of ledipasvir/sofosbuvir 4 weeks prior to presentation. He was also on tenofovir as a part of highly active antiretroviral therapy. Hemoglobin A1c 1 month before starting ledipasvir/sofosbuvir was 5.5% and currently increased to 10.5%. There was no other ascertainable etiology for sudden new-onset hyperglycemia including use of glucocorticoids, diuretics, statins, atypical antipsychotics, or quinolones. No focus of infection could be identified and serum lipase was normal at 31 U/L. A potential drug-drug interaction between ledipasvir/sofosbuvir and tenofovir was suspected. Hence, the antiretroviral regimen was changed from emtricitabine/rilpivirine/tenofovir (Complera) and raltegravir to rilpivirine/zidovudine and raltegravir. He was continued on ledipasvir/sofosbuvir for a total duration of 12 weeks. Over the next several months, the insulin dose had to be titrated down and eventually stopped due to several bouts of hypoglycemia. Hemoglobin A1c dropped to 6.0% within the next 3 months. At present, the patient is on diet control alone.


The second patient is a 55-year-old obese (BMI 38 kg/m2) African American male with chronic HCV (genotype 1b) who presented to the emergency room with polyuria and polydipsia. Plasma glucose was 548 mg/dL with an anion gap of 14. He was started on ledipasvir/sofosbuvir 8 weeks prior to presentation at which time random serum glucose levels had ranged from 70 to 140 mg/dL. Hemoglobin A1c was 6.3% before starting ledipasvir/sofosbuvir and more than 14% on presentation. He was only on diet control and exercise for the management of prediabetes. Similar to the first patient, there was no other clear etiology for the hyperglycemia including history of exposure to glucocorticoids, diuretics, statins, atypical antipsychotics, or quinolones. No ongoing infection was identified and there was no evidence of pancreatitis. He was initially managed with parenteral insulin and was subsequently changed to basal insulin and metformin. Random glucose levels 1 month after discharge ranged from 80 to 140 mg/dL. Over the next 3 months after initiation of hyperglycemia treatment, his BMI improved to 35 kg/m2.


A 77-year-old man was presented with cardiovascular pathologies that included severe mitral regurgitation (MR) and moderate tricuspid regurgitation (TR). He had no history of congenital venous disease. He had recent shortness of breath with exertion. His New York Heart Association status was class II. Echocardiogram results showed severe MR due to P3 prolapse, moderate TR, and pulmonary hypertension. The left ventricular function was normal with ejection fraction at 61 % and coronary angiogram findings revealed no significant coronary artery stenosis. Renal function was normal with creatinine at 0.69 mg/dl and preoperative hematocrit at 41 %. A preoperative nutritional assessment showed a normal serum albumin level.
The patient underwent a mitral valve repair with P3 resection and suture, followed by ring anuloplasty and tricuspid anuloplasty procedures using a prosthetic ring via a right mini-thoracotomy. Cardiopulmonary bypass was established with antegrade arterial flow through the right subclavian artery, and bicaval venous drainage through the superior vena cava and right femoral vein. We checked the position of venous cannula by transesophageal echocardiography (TEE). Also, we confirmed the position under direct vision when performing tricuspid annuloplasty. Cardiac arrest time was 219 min and cardiopulmonary bypass time until declamping aorta was 262 min. During main procedure, cardiopulmonary bypass flow, mean arterial pressure, and central venous pressure (less than 5 mmHg) were stable within normal range. The value of hematocrit during cardiopulmonary bypass was between 22 and 25 %, and base excess was around −5.0 mEq/L. Blood transfusion was also performed. We observed no sign of poor venous drainage from his lower body, such as severe edema of lower extremity and ascites. While weaning from the bypass, the patient became hemodynamically unstable and the weaning became difficult. Soon thereafter, hemodynamic status worsened even while under the cardiopulmonary bypass due to insufficient venous drainage. TEE showed that the heart appeared to be empty and hyperdynamic contraction of the left ventricle. There was no bleeding in the pericardium cavity or left pleural cavity, and no evidence of aortic dissection. Despite fluid infusion, we could not maintain a sufficient venous return to maintain blood pressure. The only abnormal finding at that point was abdominal distention. We suspected retroperitoneal bleeding but could not find any hematoma throughout the right groin or in transgastric TEE.
Since high intraabdominal pressure was externally apparent, we decided to perform a decompression laparotomy, which was done by the general surgery team. A midline laparotomy revealed severe edema of the small intestine and mesentery (Fig. ). The abdominal cavity was decompressed by putting the small intestine into a transparent plastic intestinal isolation bag, which was secured to the laparotomy wound. As soon as the abdominal cavity was decompressed, central venous pressure dropped down from 15 to 4 mmHg, and the patient became hemodynamically stable under the cardiopulmonary bypass. Because of the long bypass time (501 min) and low oxygenation due to a large amount of fluid infusion, it was difficult to wean off the cardiopulmonary bypass, and the patient was sent to the intensive care unit with extracorporeal membrane oxygenation.
Postoperatively, intestinal and mesenteric edema showed rapid dispersion with high urine output then promptly recovered after the decompression laparotomy. The general surgical team performed abdominal closure on postoperative day 1. Thereafter, the patient became hemodynamically stable and could be weaned from extracorporeal membrane oxygenation on postoperative day 8. Although pneumonia and acute renal failure later developed, he recovered well and was discharged on postoperative day 101. Twelve months after the operation, the condition was stable.
There are two types of ACS; primary with an intraabdominal origin and secondary. Secondary ACS has an extra-abdominal cause such as massive fluid resuscitation leading to intestinal and mesenteric edema []. Organ dysfunction seen in these cases typically includes hemodynamic instability, respiratory insufficiency with impaired gas exchange, and acute renal failure, which generally become apparent early in the course of the disease []. Therefore, ACS could be fatal in a patient under cardiopulmonary bypass, as increased intraabdominal pressure can cause a failure of venous return. However, only a few cases of ACS during cardiopulmonary bypass have been reported [, ], and there are no patients undergoing minimally invasive cardiac surgery.
The mechanism of ACS involves several factors such as shock, hypoxia, massive crystalloid resuscitation, and extreme hemodilution []. In addition, there may be some role for extracorporeal circulation in development of intraoperative abdominal hypertension. Previous reports have shown an increase in intraabdominal pressure that is dependent on the degree of hemodilution after initiation of cardiopulmonary bypass, which has a significant impact in such bypass cases with cardiac arrest on mesenteric circulation []. Hypothermia is also reported to be a predisposing factor in ACS []. Cardiopulmonary bypass is associated with systemic inflammatory response, which can cause increased capillary permeability. Furthermore, insufficient venous drainage frequently results in systemic interstitial edema. In the present case, we initially did not intend to perform transfusion during surgery, though we stored autologous blood obtained prior to the operation, which might have caused hemodilution and a low hematocrit value. Also, when an adequate flow could not be obtained, a large amount of crystalloid infusion was initially given.
Prompt diagnosis is very important to reduce the negative effects of ACS, and once a diagnosis is made, the appropriate treatments should be immediately started. Various nonsurgical approaches, such as intraabdominal fluid drainage and neuromuscular blockade, have been shown to reduce intraabdominal pressure []. A decompression laparotomy should be considered to relieve pressure and restore capillary perfusion in the organs of critically ill patients [, ]. In the present case, a relatively long period of time was needed to make a diagnosis of ACS, as there were several points to check to determine the reason for instability of cardiopulmonary bypass due to the small incision and insufficient view of the heart, vessels, and other side of the pleural cavity, which might have caused massive fluid resuscitation and requirement of extracorporeal membrane oxygen. Once a decompression laparotomy was performed and intraabdominal pressure relieved, hemodynamic status dramatically improved, and massive urine output led to early abdominal closure.


A 28-year-old male with a history of progressively increasing nasal obstruction since 4 months, was presented to the clinic. This nasal obstruction was associated with a mass in the nasal cavity seen through the anterior nares, which was initially small and probably arose from the septum, but had gradually increased to obstruct almost the whole right nasal cavity. There was no history of nasal discharge, post nasal drip, allergy, epistaxis, headache, facial fullness, alteration in smell, or other nasal complaints. There was broadening of the right nasal cavity with prominence of the right nasal vestibule.
On anterior rhinoscopy a pinkish mass was seen filling the right nasal cavity ().
When probing the mass; which was attached to the septum, vestibule, and roof with a broad pedicle; it was observed to be firm in consistency, non friable, non tender, and did not bleed on touch. Posterior rhinoscopy was insignificant. Detailed nasal endoscopy revealed that the middle meatus was clear and there was no other mass or anomaly. The left nasal cavity was within normal limits. The rest of the otolaryngological examination did not reveal any noteworthy abnormality. A probable diagnosis of a granulomatous mass, septal papilloma, hemangioma, polyp, and rhinoscleroma was made.
Fine needle aspiration cytology of the mass suggested abundant eosinophilic cells and a differential diagnosis of nasal polyp, eosinophilic granuloma, and eosinophilic angiocentric fibrosis was considered.
CT Scan confirmed the presence of a right nasal mass arising from the anterior part of the nasal septum and the adjoining roof, which was obstructing the right nasal cavity. Aeration of the associated sinuses were clear ().
Prior to surgical intervention an informed consent was taken. The patient was put under local anaesthesia using 1:100000 lignocaine in adrenaline and, using endoscopic guidance, the mass was excised with an adjacent margin of normal healthy tissue. The specimen macroscopically measured 2.5 X 2 cm in size, was pink in colour, firm in consistency, and had a lobulated smooth surface ().
The mass was sent for histopathological examination, which suggested features consistent with an inflammatory nasal polyp (). The postoperative period was uneventful and the patient is on regular follow up with no recurrence.


A 52-year-old male patient with no significant medical history presented to our outpatient clinic complaining of soreness in the left knee during jogging. He jogged for several hours per week, with progressively worsening pain. The knee was stable and had full range of motion, with little hydrops, no meniscal irritation, and a mild varus angulation. X-rays were taken and medial gonarthrosis was diagnosed.
Taking into account his young age and mild symptoms, conservative treatment was initiated. The patient was advised to cut back on his training and take a glucosamine-chondroitin supplement for 3 months. When the complaint did not get better, an intra-articular cortisone injection was administered. Further X-rays revealed osteochondritis dissecans of the medial condyle (). The medial femoral condyle was found to have grade 4 cartilage defects covering 70% of the surface on arthroscopic evaluation. The patellofemoral compartment had grade 2-3 cartilage defects. The cruciate ligaments, menisci, and the lateral compartment were normal and intact.
As a result of the scale of his complaints and the need to stop all sports, the patient requested a more permanent solution. To address his extensive medial compartment damage and advanced symptomatic patellofemoral chondropathy, a Deuce Journey (Smith & Nephew Inc., Memphis, TN, USA) bicompartmental arthroplasty of the left knee was proposed. A HTO was considered, but because of the grade IV degeneration of the medial compartment, it was not our treatment of choice as severe degenerative involvement of the medial compartment still remains a contraindication for HTO []. Following a classic midline parapatellar incision, the patellar osteophytes were denervated and resected. The medial meniscus was then resected and femoral and tibial cuts were made. A size-8 femoral component, a size-6 tibial component, an 8 mm meniscal insert and a size-29 cemented patella were implanted. Stable fixation and excellent patellar tracking were achieved.
Postoperative care followed a standardized protocol and was uncomplicated. Six-week follow-up with X-rays () was reassuring and the patient resumed exercise 3 months after the procedure. Four-month and 1-year postoperative outpatient visits revealed no objective or subjective complaints other than a sore knee after extensive running. The X-rays remained reassuring.
During routine consultation 4 years following surgery, the patient complained of increasing pain on the medial side of the knee while running. Normal daily activities gave no pain. Clinical investigation revealed a normal range of motion in a stable knee, no hydrops, and a little pressure soreness over the medial tibial plateau. On X-ray examination, subsidence and fracture line of the tibial baseplate were visible (), while a bone scan revealed hypercaptation of the tibial baseplate. C-reactive protein (CRP) levels remained below baseline and aspiration was negative. A diagnosis of loosening with fracture of the tibial baseplate () was made and the patient was revised to TKA almost 5 years following the index procedure ().


A 37-year-old white man came under our observation 8 years ago (2007) because of pain and increasing intraocular pressure despite maximal drug therapy in diagnosis of neovascular glaucoma in his right eye (RE). His medical history included blindness since childhood, polar posterior cataract and strabismus surgery in his RE at the age of 5 years. He has always had general good health, his left eye visual acuity was 20/20 and no ocular abnormality was observed. Magnetic resonance imaging (MRI) of his orbit and A-scan ultrasonography showed bulbar subatrophy, vitreous haemorrhage, and choroidal calcifications (Fig. ). He had systemic multidrug-resistant hypertension and a fever resistant to multiantibiotic therapy for 3 months before presentation.
After 1 month he underwent enucleation to relieve the pain and a hydroxyapatite prosthesis, 18 mm in size, was implanted. A histopathological examination disclosed an undifferentiated carcinoma arising from the ciliary body. An immunohistochemical study was positive for cytokeratin pool and negative for S-100, HMB45, Melan-a, CD34, CD45, CD3, and CD20 (Fig. ). A total body computed tomography (CT) scan, head and neck MRI were performed and no signs of metastatic disease were detected. A longitudinal follow-up was carried out revealing no remarkable signs. Since June 2008 (1 year after the enucleation procedure) he again had severe head and neck pain, fever and systemic hypertension. A new CT scan and MRI demonstrated a mass involving his entire orbital cavity displacing the prosthesis, which reached his optic foramen and medially eroded the bone wall of his orbit and ethmoid (Fig. ). He underwent a debulking procedure followed by three chemotherapy cycles (cisplatin and 5-fluorouracil). After the surgery his blood pressure improved significantly and remained controlled with single therapy and without fever. In September 2008 a new head and neck CT scan and MRI showed a relapse. We decided to perform a resection of the tumor involving front and middle skull base and his fronto-orbito-ethmoidal area. The following year a CT total body scan showed bone, lung, adrenal, and retroperitoneal metastases and he died 5 years ago, despite radiotherapy and six chemotherapy cycles: Taxotere (docetaxel), cisplatin and 5-fluorouracil.


A 17-year-old female pedestrian was struck by a motor vehicle sustaining a comminuted subtrochanteric femoral fracture (AO 32A1.1) (A). The patient underwent treatment of the fracture with open reduction and internal fixation trough a lateral approach with a proximal femoral locking plate. The main fragments of the fracture achieved union; however, the lesser trochanter remained displaced (B). At 3-month follow-up the patient complained of groin pain attributed to the displaced lesser trochanter and lateral thigh pain due to trochanteric bursitis and implant prominence. At that time the treating surgeon decided to remove the implant and resect the lesser trochanter. During surgery through a lateral approach, bone that was thought to be the lesser trochanter was resected. However, intraoperative documentation by fluoroscopy showed that the FHNJ inadvertently had been resected. The wound was closed and the case referred to the senior author.
Radiographic workup including standard radiographs, computed tomography (CT) and magnetic resonance imaging (MRI) was performed. This showed that 50% of the original cross-section of the FHNJ had been resected, posing a considerable fracture risk (C and D). MRI showed viability of the femoral head [] and a reconstruction of the FHNJ together with prophylactic stabilization of the neck was planned.
The patient underwent surgery 3 weeks following the resection of the FHNJ. The patient was placed in lateral decubitus position and access was gained using a trochanteric flip osteotomy approach [, ]. A 20-cm long incision, including the previous incision was centered over the greater trochanter. The interval between gluteus medius and maximus was identified. A step cut osteotomy of the greater trochanter was performed and the interval between piriformis muscle and gluteus minimus developed. The greater trochanter was mobilized anteriorly and the joint capsule was identified. A Z-shaped capsulotomy was performed and the hip joint was inspected but not dislocated. The bone defect started at the equator of the femoral head and included ∼50% of the neck diameter and extended distally to the intertrochanteric line (D, A). The lateral retinaculum with the terminal branches of the deep branch of the medial femoral circumflex artery was intact. Under direct vision and image intensifier, a 130°/4.5-mm angled blade plate was inserted. The hip was then dislocated after release of the ligamentum capitis femoris. Viability of the femoral head was proven by bleeding evident from a drill hole done in the femoral head fovea []. The weight bearing cartilage of both the femoral head and acetabulum, and chondrolabral complex was undamaged.
Bi-cortical iliac crest graft was harvested through a separate incision and contoured to fit the defect. It would have been preferable to place the cancellous side against the bone of the defect and the smooth cortical surface facing the joint. However, the curvature of the cortical surface of the graft was concave and it was not feasible to contour it with the cortical surface facing the joint. Therefore, the cortex was removed and the graft was pre-contoured and fixed into the defect with two 2.0-mm titanium screws. The FHNJ was then contoured using a burr which corroborated with a 42-mm spherical template to restore sphericity (A and B).
A gap of 1 mm remained between the reconstructed femoral head and the spherical template to allow room for synovial membrane to envelope the reconstructed cancellous surface. The hip was then reduced and range of motion tested to ensure it remained impingement free. The capsule was sutured loosely and the trochanteric osteotomy fixed with two 3.5-mm cortical screws. Continuous passive motion was started the first day after surgery and the patient was discharged, partial weight bearing for 6 weeks, full weight bearing thereafter. Clinical and radiographic follow up was performed at 6 and 12 weeks, sixth month and at 1 and 2 years. (A and B).
At 2-year follow-up the patient had no pain or signs or symptoms of instability of the hip. There was some tenderness over the proximal aspect of the plate. The Oxford hip score was 46/48 points, rating as excellent. The range of motion of the left hip has a coxo-femoral flexion of 100°; extension 10°; internal rotation of 30°; external rotation 60°; abduction of 40°. Impingement sign was negative. Abductor strength was rated 5/5. There were no radiographic signs of osteonecrosis. CT showed the bone graft was fully integrated and CT-arthrogram coronal (A) and oblique (B) slides showed restored sphericity of the FHNJ.


An otherwise healthy 69-year-old physician presented to his primary care physician for his annual physical with a three to four-month history of intense, episodic abdominal pain (8-10/10 in severity), which he attributed to a personal history of irritable bowel syndrome (IBS). He noted a 15-pound weight loss in the preceding several months and some fatigue but was otherwise without complaint. Aside from a family history of colon cancer in some distant relatives, his history was otherwise unremarkable with no history of alcohol, tobacco, or drug abuse. Informed patient consent was obtained prior to treatment.
Routine lab work during his annual physical revealed normal amylase levels and non-specific elevation of lipase (106U/L; 13-51U/L). His fasting blood glucose (BG) was also elevated at 145 mg/dL. Given the elevated BG, a basic metabolic panel was repeated several weeks later and was still elevated at 181 mg/dL.
Given the abdominal pain, elevated lipase, and new diagnosis of diabetes, the primary care physician ordered CT imaging to evaluate the abdomen and pelvis, which was completed six weeks after his initial presentation. CT imaging showed a 2.9 cm pancreatic mass encasing the celiac trunk and the proximal celiac arterial branches. Also noted were multiple, subcentimeter hypodensities throughout the pancreas with subcentimeter adjacent mesenteric lymph nodes, which demonstrated loss of fatty hilum, and were concerning for metastatic spread of disease (Figure ).
Subsequently, an endoscopic ultrasound with fine needle aspiration was performed, showing a highly cellular specimen containing clusters of malignant cells characterized by enlarged nuclei of different sizes and shapes with irregular nuclear contours and coarse chromatin. Some showed inconspicuous nucleoli. The cells also had a moderate amount of cytoplasm (Figures -). A PET/CT scan demonstrated brisk FDG avidity of the pancreatic and peripancreatic tissue with subtle pleural-based left lung FDG avidity, which was felt to represent an inflammatory process. Carcinoembryonic antigen (CEA) was 1.9 ng/mL and cancer antigen 19-9 (CA 19-9) was 6.6 U/mL. He was evaluated by surgical oncology and deemed to be surgically inoperable with a clinical stage T4N1M0, Stage III pancreatic adenocarcinoma.
The patient was referred to medical oncology and was immediately started on systemic therapy consisting of folinic acid, 5-fluorouracil (5-FU), irinotecan, and oxaliplatin (FOLFIRINOX) and completed four cycles over the next two months. The patient tolerated chemotherapy with manageable adverse effects, including mild anorexia, nausea, fatigue, and overall malaise. The patient also noted improvement of his abdominal pain.
Repeat CT chest, abdomen, and pelvis obtained at the completion of FOLFIRINOX demonstrated stable proximal pancreatic hypodensities and unchanged encasement of the proximal celiac trunk and arterial branches, as well as stable peripancreatic nodes (Figure ). Chest imaging showed no evidence of pulmonary metastases or lymphadenopathy.
The patient was subsequently referred to the Department of Radiation Oncology for consideration of radiation therapy (RT). At the time, the patient was asymptomatic and his physical examination was unremarkable. Laboratory data was notable for a fasting blood glucose of 156 mg/dL and normal ALT, AST, alkaline phosphatase, and total bilirubin. He had mild normocytic anemia (Hgb 12.5 g/dL, MCV 93μm3) and thrombocytopenia (104k/mm3) with other lab values within normal limits.
The patient was offered radiation therapy with a therapeutic goal of maintaining locoregional control and quality of life. Additionally, it was felt that a robust response could potentially make the patient a candidate for surgical resection. The patient was treated using intensity-modulated radiation therapy (IMRT) with an aggressive plan covering gross disease and suspicious lymph nodes with appropriate margins to 5400 cGy in 30 fractions and concurrent 5-FU by continuous infusion during radiotherapy. The patient completed radiation therapy nearly seven months after his initial presentation. The patient tolerated chemoradiotherapy with no major adverse effects. He did experience minor difficulty with nausea and “achy” abdominal pain, which resolved a few months after the completion of therapy. Subsequently, the patient elected not to receive further cycles of FOLFIRINOX due to moderate toxicity from the combined modality therapy.
The patient has received no further therapy since the completion of chemoradiotherapy as he was focused on quality of life and wanted to avoid a large, potentially non-therapeutic surgical procedure. CT imaging of the abdomen and pelvis obtained shortly after the completion of radiation showed an interval decrease in the size of the pancreatic mass (Figure ). Serial CT imaging has demonstrated a continuous, progressive decrease in the size of the pancreatic and celiac axis mass. CEA and CA 19-9 laboratory values were followed and have remained relatively stable with time.
MRI imaging obtained 33 months after his initial presentation and 26 months after the completion of radiation therapy demonstrated pancreatic atrophy with a residual fullness of the uncinate process. The celiac axis was widely patent with minimal surrounding ill-defined soft tissue. Additionally, there were preserved fat planes between the pancreas and the superior mesenteric artery and vein; otherwise, the imaging was unremarkable. On the most recent imaging, a CT scan that is more than 36 months after his initial presentation and 31 months after the completion of chemoradiotherapy, there is mild stable, ill-defined soft tissue fullness at the celiac axis, which likely represents post-treatment changes with no evidence of recurrent or progressive disease (Figure ). The most recent CEA was 2.9 and CA 19-9 was less than 2.0 (lower limit of sensitivity for this assay). Clinically, the patient has been enjoying a remarkably excellent quality of life; six months ago, he had returned from a visit to see his grandchildren in Hawaii and was busy planning a river cruise in Budapest. The patient reports good appetite and energy level, regularly walking 8 miles daily with his dog. He experiences occasional abdominal discomfort, which he attributes to his IBS, but has no other complaints.


A 61-year-old male with HFH had been treated with LDL apheresis for 26 years. He presented with syncope and chronic congestive heart failure. Echocardiography revealed the progression of AS with a peak pressure gradient (PG) of 125 mmHg, mean PG of 76 mmHg, an aortic valve area of 0.36 cm2 and moderate aortic regurgitation. The diameters of the aortic annulus, sinus of Valsalva, and sino-tubular junction (STJ) were 17, 25, and 17 mm, respectively. Computed tomography showed the severe calcification of the whole aortic root with protrusion of the calcified plate at the STJ (Fig. ). Coronary angiography showed an occlusion in the right coronary artery.
During surgery, epiaortic echography demonstrated a heavily calcified aorta and a mobile plaque on the posterior wall of the ascending aorta, so extracorporeal circulation (ECC) was established between a graft anastomosed to the right axillary artery and the bicaval cannulae. At first, the great saphenous vein was anastomosed to the right coronary artery with the heart beating. Under deep hypothermic circulatory arrest (DHCA), retrograde cerebral perfusion was initiated via the superior vena cava. The ascending aorta was incised, and cardioplegic solution was delivered to the left coronary artery and the great saphenous vein to the right coronary artery. The aorta was transected just proximal to the brachiocephalic artery without aortic cross-clamping. A 24 mm one-branched vascular graft was anastomosed to the aortic stump, and ECC was restarted via a branch of the graft. The calcified plate at the STJ protruded so as to narrow the aortic lumen to 17 mm (Fig. a). Decalcification of the STJ was carried out using a Cavitron Ultrasonic Surgical Aspirator (CUSA). The aortic valve was severely calcified, as was the tricuspid. The cusps were removed, and the annular calcification was removed by a CUSA. The aortic annulus was too narrow to implant an adequate-sized prosthesis, so the annulus was incised on the intervalvular fibrous trigone. The aortic root was enlarged by sewing a two-ply bovine pericardial patch from the incised annulus to the STJ (Fig. b). A St. Jude Medical regent valve (17 mm; St. Jude Medical, Inc., St. Paul, Minn) was implanted on the enlarged annulus. The graft was anastomosed to the proximal aorta just above the STJ. Finally, the great saphenous vein was anastomosed onto the graft. The patient was then successfully weaned from ECC. The period of DHCA, ECC, aortic cross-clamp, operation was 31, 282, 179 and 515 min, respectively. The lowest rectal temperature was 20.5 °C. He recovered favorably after the operation without any cerebrovascular complications. Post-operative echocardiography revealed that a peak PG from the left ventricle to the aorta was 19 mmHg, a mean PG was 7 mmHg and an aortic valve area was 1.37 cm2. Post-operative 3D-CT demonstrated well-enlarged aortic root and patent saphenous vein graft (Fig. ). One year later after surgery, he is in New York Heart Association functional class I.


A 55-year-old female patient was brought to the emergency ward because of severe dyspnea and cyanosis and she went into the apnea state rapidly. During resuscitation and endotracheal intubation, an obstructing mass was seen in the laryngeal lumen and therefore she was intubated with great difficulty and then admitted to the ICU. She had dyspnea since 2 years, first in the exertional form and then even during rest. Six months before presenting with these symptoms she had a change of voice and dysphonia. When lying down on her right side, her dyspnea became more severe. She also complained of dysphagia but suffered no weight loss. She didn't smoke or drink alcohol and there was no history of infectious disease, or positive family history. During direct laryngoscopy and video laryngoscopy, a large and firm tumor was seen, filling about 90% of the intra laryngeal lumen. It was pink in color with a distinct and marked vascular pattern over its capsule ().
The pedicle of this mobile tumor was toward the lower parts in the larynx and could not be palpated easily. In the CT scan, the tumoral lesion was seen from the ventricle and above the base of the epiglottis ().
The excised tumor was an encapsulated tumor with a mucosal lining and its size was about 3.3 x 5.4 centimeters ().
Upon microscopic description, groups of epithelial cells in a mixoid ground were reported ().
Although the diagnosis of pleomorphic adenoma is easily possible with light microscopy in most cases, some special immunohistochemical stainings are also helpful (). Mitotic features are not common in the lesion. Pseudoepitheli- omatous hyperplasia in the mucosal lining of a mixed tumor in the oral cavity was reported in an article (). Also there is a report of myoepithelial carcinoma within a tumor accompanied by a pathologic diagnosis of a pleomorphic adenoma in the buccal mucosa (). Fortunately, there were no similar features in the pathologic description of the presented case.


A 57-year-old man was diagnosed with paranoid schizophrenia at the age of 20. Eight years prior to presentation in the emergency department, the patient sustained a fist blow to the top of the left temporoparietal region, in a conflict with another patient during treatment in a psychiatric institution. Initially, after the injury, a thumbnail-sized mass developed. It increased in size with time. The patient was therefore hospitalized by his guardian. At presentation an irregular hemispherical mass measuring 8 × 5 × 3 cm was noted in the left temporoparietal area (); this mass extended to the forehead and the bottom of the left temple in an earthworm-like form and connected with tortuous vessels from both temporal parts of his head, which were pulsatile. The hemispherical mass was soft and mildly tender and had a moderately elevated temperature. A clear wind-like murmur was heard on auscultation of the mass. Examinations of the heart and lungs and other systemic examinations showed no abnormalities, and laboratory test results were also within normal range. The patient underwent a digital subtraction angiography: (1) the left superficial temporal artery (STA) was thickened and tortuous, and there was a large vascular mass at its end (). (2) The right STA was also thickened and tortuous and was also supplying blood to the vascular mass (). (3) The left anterior cerebral artery (ACA) was also leading blood to the fistulous mass (). (4) The vascular mass drained through both the external jugular veins, which also appeared thickened and tortuous (). On the basis of these findings, the condition was diagnosed as a traumatic AVF of the scalp in the left temporal parietal area, supplied by both STAs and the left ACA.
After obtaining informed consent from his guardian, the AVF was resected under general anesthesia. In order to decrease the intraoperative bleeding, we first temporarily ligated the proximal branch of the feeding vessels (both STAs) twice, by suturing through the skin with a silk suture; then a 25 cm long horseshoe-shaped scalp flap including the galea was incised around the mass and pedicled towards the temporal region. Subsequently, the feeding arteries and draining veins were isolated and sequentially ligated with the exception of the feeding arteries within the periosteum, which as we suspected arose from intracranially (according to the angiography, they were deriving from the ACA). The periosteal feeding vessels were cut superficially after coagulation. The overlying arteriovenous fistulous mass was then removed. By leaving the periosteum that contained stumps of the feeding vessels which originated from the left ACA, we prevented retraction of the stumps and a possible subsequent intracranial bleeding. After resection of the AVF, we meticulously cauterized minor bleeding sites with the bipolar coagulation forceps, particularly on and around the deliberately left periosteum and then released the previous temporary ligations around the STAs. Lastly, the wound was closed in a multilayered fashion. The surgery was uneventful, with blood loss of less than 50 mL. The pathological report revealed many irregular blood-supplying arteries with large diameters and thickened walls that were interwoven to form a mass and arteriovenous fistula. A postoperative CT scan showed no intracranial hemorrhage. The wounds healed nicely, and the shape of the head appeared normal. Furthermore, there was no recurrence in the 1-year follow-up.


A 30-year-old woman was diagnosed with aggressive systemic mastocytosis at age 9 after battling with cutaneous and gastrointestinal symptoms for 4 years. At age 24, she suffered significant progression of her symptoms with disabling fatigue, flushing, and chronic bone pain requiring high doses of narcotic analgesia. Bone marrow biopsy at that time showed 50 % involvement with mast cells and her tryptase level was 101 ng/mL. KIT mutation analysis showed a rare K509I mutation that is sensitive to imatinib []. She was started on imatinib 100 mg daily and achieved complete bone marrow response and normalization of tryptase level. Despite disease control, patient continued to suffer from significant constitutional symptoms.
Subsequent bone marrow biopsy continued to showed normocellular marrow with no abnormal mast cells. There was an increase in reticulin fibrosis that was not previously reported. Jak-2 mutation was negative and cytogenetics were normal.
Imatinib was continued, but Ruxolitinib was started in attempt to control symptoms. Ruxolitinib was initiated at 5 mg twice daily and titrated up every 4 weeks over a 24-week period based on symptoms response and tolerance. Patient was monitored closely for toxicity or adverse effects from the addition of Ruxolitinib. Weight, EKG, and labs including CBC, CMP, amylase, lipase, and tryptase were collected at baseline and monitored weekly.
Labs and clinical data were recorded with each Ruxolitinib dose adjustment and results are depicted in Table . Only mild anemia was seen with increasing doses of Ruxolitinib that reversed once dose was decreased. No additional cytopenias were noted. Liver function, amylase, and lipase remained at baseline. Tryptase remained stable. No EKG changes were seen. Weight gain was witnessed over the 24-week period.
Symptoms and quality of life were assessed every 4 weeks by EORTC QLQ-C30 (Fig. ), BFI (Fig. ), MPN-SAF (Fig. ), and PGIC. Patient reported significant improvement in quality of life due to symptom reduction. Narcotic requirement was reduced from Methadone 30 mg daily to 15 mg daily. Flushing resolved and cutaneous manifestations markedly improved (Fig. ).


The patient was a 74-year-old man who was referred to our hospital after an upper endoscopy during a medical check-up revealed a flat, elevated lesion located in the lower thoracic esophagus. Histologically, this was diagnosed as squamous cell carcinoma. Specifically, the lesion was cT2N0M0, cStage IB esophageal squamous cell carcinoma (Union for International Cancer Control, seventh edition). The patient also had two early gastric cancer lesions of the lesser curvature of the stomach. In hematological examination, mild elevation of serum creatinine was observed, on the other hand, there were no other abnormal values including serum amylase, aminotransferases, C reactive protein (CRP). Body mass index (BMI) was calculated to be 22.2 kg/m2.
Therefore, this patient had interstitial pneumonia and severe obstructive respiratory disease (forced expiratory volume 1.0(s)% (FEV1.0%): 44.6%), esophagectomy with thoracotomy was considered accompanying greater risks. Consequently, the patient underwent transhiatal esophagectomy, without thoracotomy. Gastric tube reconstruction was performed via a postmediastinal route. Lymph nodes along the left gastric artery located in superior border of the pancreas were dissected with gentle traction of the pancreas. There were no metastatic lymph nodes in surgical findings.
Three days after surgery, the patient developed vomiting and pyrexia. Aspiration pneumonia was suspected; therefore, chest and abdominal computed tomography (CT) were performed, and they revealed increased density of the adipose tissue surrounding the pancreas and an accumulation of exudate in the retroperitoneum beyond the inferior pole of the left kidney (Figure ). An upper endoscopy was also performed because of the decreased contrast enhancement, and the presence of pneumatosis intestinalis at the fundus of the stomach was detected (Figure ). This finding confirmed extensive gastric tube necrosis (Figure ). On the basis of these findings, the patient was diagnosed with severe acute pancreatitis and gastric tube necrosis secondary to acute pancreatitis. The patient underwent emergency total gastrectomy, cervical esophagostomy, and jejunostomy to allow enteral feeding. The patient’s serum amylase level was high (2,604 U/L) the day after the initial surgery, but this level rapidly decreased to 137 U/L on the day acute pancreatitis was diagnosed.
The operation revealed the presence of saponification on the pancreatic body and in the greater omentum along the antrum of the stomach, as well as severe inflammation extending from the pancreatic body to the pancreatic head. Furthermore, the saponification also revealed from the retroperitoneum to the mesentery proper. Gastric necrosis extended to approximately 60 mm from the anastomotic site (Figure ).
After the second surgery, an antimicrobial agent and gabexate mesilate were administered to treat the acute pancreatitis. Contrast CT was performed again, and abscesses were drained via CT-guided puncture of abscess cavities. Although the abscess cavities around the pancreas gradually decreased, necrotic tissue lysis persisted. There was also a possible evidence of pancreatitis in the retroperitoneum, from the pancreas to the left pelvic cavity. Puncture was attempted, but effective drainage was not achieved (Figure d, arrow line).
It was quite difficult to provide the patient with adequate nutrition. The patient received the best possible nutritional therapy, including the feeding method, drug administration, and optimized nutrient composition, but his nutrition status did not improve.
The patient’s respiratory status progressively deteriorated during his prolonged hospitalization period, and he developed adult respiratory distress syndrome (ARDS) due to aspiration. Thereafter, the patient’s condition rapidly progressed to multiple organ failure, and he died 57 days after the second surgery (60 days after the first surgery). The autopsy was not performed.


A 68-year-old asymptomatic man was referred to our hospital for evaluation because of an irregularity in the gastric body, which was detected during a medical examination. His blood tests revealed no abnormalities, except for an elevated HbA1c level of 6.9%. Endoscopy and upper gastrointestinal series showed not only a type 0-IIc and 0-III gastric tumor (25 mm) with an ulceration at the posterior wall of the middle third of the stomach (Figure a and b) but also a type 0-IIc tumor (right, half-circumferential; 30 mm) in the lower third of the esophagus (Figure c,d). The biopsies of the tumors revealed squamous cell carcinoma in the thoracic lower esophagus (cT1bN0M0, cStageIA) and well- and moderately differentiated adenocarcinoma of the stomach (T1bN0M0, cStageIA). A computed tomography (CT) scan showed no primary tumor in the stomach or esophagus, no lymph node metastasis, and no tumors in other organs such as the liver and lungs. Colonoscopy and CT scan were performed to evaluate the colon and the patency of the middle colic vessels. Two polyps were detected in the ascending colon, and endoscopic polypectomy was performed 2 days prior to tumor resection.
The patient chooses TSEP for clinical stage I esophageal cancer among the therapies of TSEP, chemoradiotherapy or proton therapy, and informed consent was obtained.
TSEP was performed thoracoscopically, as previously described [], with the patient intubated under epidural and general anesthesia. Five chest trocars were introduced (Figure ), and carbon dioxide (CO2) was insufflated at a pressure of 8 mmHg to expand the mediastinum, maximizing the exposure of the intrathoracic esophagus without the need for additional retraction of the surrounding structures.
TSEP with mediastinal lymph node dissection involved three steps. First, a dissection of the middle to lower mediastinal lymph nodes was performed. The esophagus was circumferentially mobilized from the descending aorta, pericardium, and the left mediastinal pleura. The vagal trunk was cut below the level of its pulmonary branch, and the thoracic duct was preserved. Second, the procedure transitioned to the upper thorax. The arch of the azygos vein was cut using the linear stapler, and the right recurrent laryngeal nerve was identified just caudal to the right subclavian artery to ensure preservation. The fatty tissue containing lymph nodes around this area was dissected, and the right recurrent laryngeal nerve up to the inferior border of the thyroid gland was preserved. The esophagus was retracted by pulling the taped thread around the upper third of the esophagus, and en bloc dissection of the lymph nodes was performed by using scissors to prevent injury to the left recurrent laryngeal nerve below the aortic arch to the inferior border of the thyroid gland - no electrical or heat-producing devices were used. Finally, after the upper third of the esophagus was mobilized circumferentially, the esophagus was divided at the level of the arch of the azygos vein by linear stapling, and the esophagus was dissected by exposing the left side of the mediastinal pleura by retracting the anal stump. After complete mobilization of the esophagus, the subcarinal and bilateral bronchial lymph nodes were dissected completely. After the thoracoscopic procedures were completed, a chest tube was inserted.
The position of patient was changed to the supine position under general anesthesia without a blocking balloon for double-lung ventilation. After five abdominal trocars were introduced (Figure ) and CO2 was insufflated at a pressure of 10 mmHg to expand the abdomen, LTG with D1+ lymphadenectomy according to the Japanese Gastric Cancer treatment guidelines 2010 [] was performed in five steps. First, the left and right greater omentum and lymph nodes were dissected along the gastroepiploic and infrapyloric vessels. Second, the duodenum, just distal to the pyloric ring, was transected by linear stapling. Third, the left lobe of the liver was retracted using a Penrose drain to expose the anatomy around the esophagogastric junction, as reported by Sakaguchi et al. []. Fourth, the suprapyloric nodes and nodes along the left gastric artery, common hepatic artery, splenic artery, and celiac artery were dissected. Finally, the abdominal esophagus was exposed after full mobilization of the stomach was achieved.
We added another three trocars, and the right colon was mobilized (Figure ). After the infraumbilical incision was extended to 40 mm, the esophageal and gastric tumors were removed via mini-laparotomy simultaneously. The terminal ileum was divided into 4 cm proximally to the ileocecal valve by linear stapling, and the ileocolic vessels and accessory colic vein were divided. The blood supply for the right and transverse colon segments was from the middle colic vessels and there was innately no right colic artery and vein. Colonic interposition and Roux-en-Y colo-jejunal reconstruction were performed via the posterior mediastinum (Figure ). During the abdominal approach, cervical lymph node dissection was performed in parallel.
Five chest trocar incisions, a 4-cm mini-laparotomy in the middle of the abdomen, and another seven abdominal trocar incisions were required. The operation was 545 min long, and blood loss was 95 g. Postoperatively, the patient did not have any major complications. However, there was a paralytic ileus, which was relieved using conservative treatment with an ileus tube. The pathological examination revealed no metastases in 56 harvested lymph nodes and no residual tumor. He was discharged 29 days postoperatively and was followed up for 30 months without any indications of recurrence or distant metastases.


A 34-year-old woman complained of palpitations and consulted a doctor. She had a history of resection of a right ventricular (RV) fibroma 21 years ago at another hospital. At the initial operation, complete resection was impossible because of its difficulty. Five years after the operation, follow-up was ceased because she did not have any cardiac symptoms.
When she was referred to our center, electrocardiography showed sustained ventricular tachycardia (VT) (Fig. ), which was well suppressed with oral amiodarone. Transthoracic echocardiography showed a giant mass (80 × 80 × 60 mm) located in the intraventricular septum (IVS) (Fig. ) and the posterior wall of the left ventricle (LV). General ventricular wall motion was good (LV ejection fraction of 60%). Tricuspid regurgitation (TR) and mitral regurgitation (MR) were trivial. Enhanced cardiac computed tomography scan revealed that the mass contained calcification and was poorly enhanced. Cardiac magnetic resonance imaging showed that the mass oppressed the LV cavity with low tumor signal on the T2-weighted image (Fig. ). Positron emission tomography with fluorine-18 fluorodeoxyglucose showed no abnormal uptake within the tumor. These findings strongly suggested the diagnosis of recurrent fibroma. The tumor was huge, oppressing the LV cavity, and was regarded to be the cause of VT. Therefore, we arranged surgical resection.
Complete surgical resection was performed through median sternotomy with cardiopulmonary bypass under cardioplegic arrest. The gray-white tumor appeared to originate from the IVS involving the apex and the LV posterior wall. The solitary tumor was completely excised by sharp dissection together with the feeding artery (Fig. ). The defect of the IVS, sized 5 × 15 mm, was closed with Teflon felt-pledgeted 4–0 polypropylene mattress sutures. The giant remnant cavity and ventricle wall were closed with double layers of 4–0 polypropylene running sutures. Cardiopulmonary bypass time and aortic cross clamp time were 113 and 64 min, respectively. The patient was easily weaned from cardiopulmonary bypass, and intraoperative transesophageal echocardiography showed good ventricular contraction without TR, MR, or shunt flow through the IVS. The excised specimen showed a well-circumscribed solid firm mass without capsule and measured 80 × 80 × 60 mm, weighing 140 g. Most part of the tumor composed of hyalinized acellular fibrous tissue with focal calcification. Sporadic part showed fibroblast proliferation without malignancy. Pathologic examination confirmed the diagnosis of benign cardiac fibroma (Fig. ) and total extirpation. Ventricular tachycardia was not observed on continuous electrocardiographic monitoring. Two years after the operation, the patient could cease amiodarone and remained asymptomatic without VT. Transthoracic echocardiography showed good ventricular contraction without residual shunt flow or recurrence of fibroma.


In June 2014, a 35-year-old female patient presented with multiple nontender palpable lumps in both breasts and diplopia in her left eye. Thirteen months earlier, she had been diagnosed with primary extramedullary plasmacytoma of the epidural soft tissue at the cervical 6-thoracic 1 spine (C6-T1) level and the stomach. At that time, a bone marrow biopsy had shown normocellular bone marrow. A bone marrow examination contained less than 10% (6.2%) plasma cells. There had been no evidence of bony abnormality, end-organ damage (anemia, renal failure, and hypercalcemia), and serum or urine monoclonal protein elevation. The patient had undergone 12 cycles of chemotherapy with melphalan and prednisolone with concurrent radiotherapy of the spinal region. Serial follow-up with magnetic resonance imaging (MRI) and computed tomography (CT) of the cervical spine and abdominopelvic region had shown no tumor recurrence for a year.
On breast ultrasonography, multiple well-defined, oval, markedly hypoechoic masses were recognized (Figures and ). The patient's mammograms showed multiple circumscribed or obscured, oval or round, hyperdense masses in both breasts (). Ultrasound-guided core needle biopsy of the largest mass in each breast (3.6 cm and 7.2 cm in the right and left breasts, resp.) revealed plasma cell myeloma (). Breast MRI showed multiple, well-defined, oval or round, strongly enhanced masses with iso/high signal intensity (SI) on T1/T2-weighted images in both breasts (). The masses were characterized as high SI on diffusion-weighted imaging (DWI) with a low apparent diffusion coefficient (ADC) value, indicating diffusion restriction (). Dynamic contrast-enhanced MRI revealed massive, almost homogeneous enhancement (780%) of the baseline value at the initial phase and a delayed washout kinetic curve, suggesting malignancy (Figures and ). On the shoulder MRI, there was a soft tissue mass in and around the medial end of the right clavicle, extending into the ipsilateral pectoralis major muscle and the anterior mediastinum. Additionally, multiple enhanced soft tissue masses were detected in the para-aortic space and the prevertebral space of the first thoracic vertebral body on MRI. On positron emission tomography- (PET-) CT, increased F-18 fluorodeoxyglucose (FDG) uptake (maximum standardized uptake value [SUVmax 6.2]) in the head and body of the right humerus, as well as in both the breasts, was discovered, suggestive of humeral involvement. A 2.8 cm soft tissue mass with increased FDG uptake (SUVmax 3.3) was also noted in the inferolateral portion of the extraconal space of the left orbit. Repeated bone marrow biopsy and aspiration results revealed 40–50% bone marrow cellularity and 3.5% bone marrow plasma cells, which did not meet the diagnostic criteria of MM []. However, serum protein electrophoresis revealed monoclonal gammopathy (lambda light chain), and the patient was also diagnosed with anemia; her hemoglobin levels were below 10 g/dL.
On follow-up PET-CT in August 2014 (), the extent of the myeloma lesions in both breasts (SUVmax 6.3) had increased, resulting in involvement of both entire breasts. There were metastatic lymphadenopathies in the patient's left lower neck and in the axillary, anterior mediastinal, para-aortic, prevertebral, and retrocrural areas. Metastatic masses were also found in the pancreas and retroperitoneal and intraperitoneal spaces; the right middle, right lower, and left upper lobes of the lung; the left cheek; both shoulders; the chest wall; and the right buttock and both thighs. Obstructive nephropathy occurred due to involvement of the right ureter. In August 2014, the patient died of renal and pulmonary failure and severe metabolic acidosis.


A 4-year-old male with no known medical problems presented to a local emergency room with a 3-day history of decreased oral intake, nausea, nonbloody, nonbilious emesis, and abdominal pain. Laboratory assessment revealed lipemic serum with triglycerides of 7449 mg/dL (normal 30–149 mg/dL), anemia (hematocrit 19%), hyponatremia (sodium 129 mEq/L), metabolic acidosis (carbon dioxide 12 mEq/L), azotemia (blood urea nitrogen 73 mg/dL, creatinine 1.8 mg/dL), amylase 248 IU/L (normal 28–100 IU/L), and lipase 360 U/L (normal 13–60 U/L). A contrast abdominal CT scan demonstrated a large retroperitoneal mass appearing to arise from the left adrenal gland with normal pancreatic appearance. The patient was transferred to the University of Chicago Pediatric Intensive Care Unit for further management and diagnostic workup.
On admission the patient was febrile (39.4°C) and tachycardic (132 beats/min) with weight, height, and BMI at the 83rd, 33rd, and 97th percentiles, respectively. On physical exam his abdomen was distended with hypoactive bowel sounds and a palpable mass in the left upper quadrant; no xanthomata or lipemia retinalis was noted. The laboratory findings were comparable to the previous with the addition of amylase 79 U/L (normal 28–100 U/L), lipase 99 U/L (normal 11–65 U/L), and fasting triglycerides 6060 mg/dL.
Due to concern for malignancy, the patient underwent an extensive workup to rule out solid tumors. On repeat chest/abdominal CT scan, a diffusely enlarged pancreas without areas of necrosis or calcifications was noted. Additionally, the mass was described as a large infiltrative low density lesion extending from the left retroperitoneum around the pancreas, bilateral renal spaces, down to the perirectal area without obvious metastatic lesions within the lungs or abdomen (). The patient underwent an exploratory laparotomy with tissue histology to better characterize the origin of the mass. Intraoperatively, a significant amount of ascites and the retroperitoneal mass were identified in the left paracolic gutter with necrotic extension to the omentum and onto the left colon at the splenic flexure. The mass was also noted within the lesser sac, anterior to the pancreas, and extending into the pelvis. A large portion of the retroperitoneal mass and adherent omentum was resected, in addition to the necrotic portion of the splenic flexure, and a diverting transverse colostomy was performed. The mass pathology revealed extensive fat necrosis and reactive inflammation of the omentum without any identifiable tumor cells. The resected bowel segment had extensive serosal fat necrosis and reactive inflammatory changes, but viable mucosa and muscular wall with no perforation on pathologic examination. Additionally, bone marrow biopsies and infectious studies were negative. Two weeks later, a repeat abdominal CT scan revealed a large mature pseudocyst in the site of the former fluid collection, which was then percutaneously drained by interventional radiology (amylase level of 173 U/L).
We concluded that the patient had undiagnosed type I familial hypertriglyceridemia, presenting initially as chylomicronemia syndrome, resulting in acute pancreatitis with a large peripancreatic fluid accumulation causing colonic necrosis due to direct pancreatic enzyme serosal digestion. The patient was initially managed with total parenteral nutrition and kept NPO (nil per os) with subsequent advancement to a low-fat diet and colonic reanastomosis following a 3-month period. To date his hypertriglyceridemia has been controlled with a low-fat diet supplemented with omega-3 fatty acid ethyl esters.