A 54-year-old woman presented with generalized pruritus, diarrhea, weakness, and jaundice for two weeks. She described the diarrhea as nonbloody, watery, and associated with mild abdominal cramps. Her urine was dark but she denied any change in the stool color. She denied recent hospitalizations, history of travel, or contact with anyone with infectious hepatitis. Also, she reported weight loss of approximately four pounds during this period. Her past medical history included hypertension, polyarthritis with arthralgia, and osteoporosis for which she was taking bisoprolol, oral bisphosphonate, calcium, and vitamin C. She denied drinking alcohol, intravenous drug use, blood transfusions, or needle-stick injuries. She had been in a monogamous relationship and reported barrier-protected sexual contact. On admission, the patient was icteric with no other signs of chronic liver disease. Her vital signs were normal and she was afebrile. On physical examination, she had a palpable liver 3-4 centimeters below the costal margin at the midclavicular line with no clinical evidence of portal hypertension. The remainder of the physical examination was normal. Laboratory tests revealed normal blood count and basic metabolic panel. Liver tests showed aspartate aminotransferase (AST) level of 1131 IU/L [reference range: 8–34 IU/L], alanine aminotransferase (ALT) 2312 IU/L [6–55 IU/L], alkaline phosphatase (ALP) 285 U/L [40–150 IU/L], total bilirubin of 12.8 mg/dL [0.2–1.2 mg/dL], and serum creatinine of 0.4 mg/dL [0.7–1.3 mg/dL]. Amylase was 96 mg/dL [25–125 U/L] and lipase 430 U/L [8–78 U/L]. Prothrombin time was normal, INR was 1.0 [0.8–1.2], and partial thromboplastin time was 40 seconds [9.8–11.7 seconds]. Stool studies for ova and parasites were negative. Serological testing for acute infectious hepatitides A, B, and C was negative, except for hepatitis A anti-IgG which was positive indicating previous exposure. Cytomegalovirus and Epstein Barr virus tests were also negative. Serological studies for autoimmune hepatitis, anti-nuclear antibodies, anti-mitochondrial antibodies, anti-smooth muscle antibodies, and anti-liver/kidney microsomal antibodies were negative. An ultrasound of the liver showed dilated intrahepatic biliary ducts with a normal sized common bile duct. Hepatobiliary iminodiacetic acid scan and magnetic resonance cholangiopancreatography were normal, except for mildly dilated intrahepatic biliary ducts. No liver biopsy was performed in our patient.
She was empirically treated with ursodeoxycholic acid and ciprofloxacin for pruritus and diarrhea, respectively. On the third day of hospitalization, laboratory tests were improved (). Her diarrhea and pruritus resolved; however, her jaundice lagged behind. The comprehensive workup did not reveal an etiology for her hepatitis. However, upon further questioning, the patient stated that she was taking a preparation of Chinese skullcap and black catechu for her joint pain for two to four weeks prior to admission. The liver enzyme abnormalities were attributed mainly to the skullcap. Significant improvement of her symptoms and downward trend of the liver enzymes obviated the need for liver biopsy or further workup. She was advised to discontinue the skullcap and discharged home. She continued taking ursodeoxycholic acid with subsequent resolution of her symptoms and improvement in liver biochemistries.


A 4-year-old young male child was admitted to Manipal Teaching Hospital (MTH), Pokhara, Nepal, with the complaints of fever and chills of four days' duration and difficulty in micturition since 2 days. The parents noticed occasional discharge from the urethral meatus and passage of fresh blood at the end of micturition since 2 days. On examination, the patient's general condition was fair. His temperature was 98.6°F, respiration rate was 28 per minute, and heart rate was 102 per minute. There was no pallor, no icterus, and no lymphadenopathy. There was mucoid discharge from the urethra with mild congestion at the preputial area. The case was diagnosed as urethrocystitis. Both the urethral discharge and the urine specimens were sent for culture and sensitivity testing on the second day of admission. Urine sediment showed plenty of pus cells. On culture, it grew Escherichia coli [>105 CFU/mL] which was sensitive to norfloxacin, ciprofloxacin, gentamicin, ceftazidime, cefotaxime, nitrofurantoin, piperacillin, cefoperazone-sulbactam, and netilmicin and resistant to cephazoline and ampicillin. The urethral discharge also grew E. coli with sensitivity pattern similar to the urinary isolate as noted above. On day four of admission, patient was started on cefixime injection 750 mg 8 hourly for 5 days and gentamicin injection 80 mg OD for 5 days, along with paracetamol syrup 7.5 mL SOS. Patient became afebrile three days after the administration of antibiotics. During this time, cardiovascular system examination revealed a pansystolic murmur over the left parasternal region, and hence he was referred to cardiology for consultation. He was diagnosed as a case of perimembranous ventricular septal defect (VSD) with small left to right shunt. There was no atrial septal defect nor was there any patent ductus arteriosus. Since there was recurrence of fever, the child was kept on the same antibiotic regime. However, fever subsided after another seven days of treatment and the patient was discharged with the advice for cardiology review after 6 months. One week later, parents noticed that the child had developed yellowish discoloration of the nails of both hands (). He was again brought to MTH for dermatology consultation. On examination, the nails of both hands were painless with sloughing of the distal parts of the nails. Nail clippings from the sloughed out area were collected with aseptic precautions. Direct microscopy under 20% KOH wet mount of the clippings showed numerous yeast cells. A small fragment was processed for histopathological examination using haematoxylin and eosin stain which demonstrated fungal elements, yeast cells with coarse pseudomycelia (Figures , , and ). Sample was cultured on 2 sets of Sabouraud's Dextrose Agar slants with chloramphenicol which were incubated at 25°C and 37°C. The media at 37°C showed dull white creamy moist colonies after 3 days' incubation. The organism was identified as Candida parapsilosis by conventional methods [] and confirmed by sequencing the D1-D2 portion of the 28S rRNA gene []. Antifungal sensitivity testing of the isolate performed by micro-broth dilution method in accordance with CLSI guidelines [] showed the following MICs (μg/mL) for various antifungal agents tested: fluconazole (4), voriconazole (0.1), anidulafungin (0.3), caspofungin (0.1), micafungin (4), amphotericin B (2), itraconazole (0.3), and posaconazole (0.1). The patient was successfully treated with topical amphotericin B and oral fluconazole 6 mg/kg to start with, followed by 3 mg/kg from day two onwards for 6 weeks with marked improvement in skin discoloration and restoration of vascular tissue in the nail bed.


An 81-year-old white male presented to the Saint Louis Veterans Health Affairs chiropractic clinic in November 2014 with a referral for low back pain and he described additional complaints of neck pain, upper thoracic pain, radiating numbness, tingling and pain into the left arm, and pain that radiated into his left lateral and anterior chest wall. Coughing and sneezing significantly increased his pain in all areas of complaint and he denied chest pain and shortness of breath. Relevant medical history included concurrent care for high-grade papillary transitional cell carcinoma (TCC) of the bladder, and presence of a pacemaker. He was a 50-year non-smoker, but with a 30-pack year history of cigarette use.
His bladder cancer was diagnosed approximately one year prior after he presented with gross hematuria. Cystoscopy confirmed the presence of an 8 mm papillary tumor near the right ureteral opening and trigone, and a second cystoscopy identified a 5 mm mass on the left lateral bladder wall. Two prior biopsy and transurethral resections of bladder tumor (TURBT) procedures had been performed. Pathology report revealed high-grade transitional cell carcinoma that invaded subepithelial connective tissue, but was negative for muscular infiltration. Upon presenting for chiropractic care he was in the process of completing a second round of Bacillus Calmette-Guérin (BCG) immunotherapy.
Cervical radiographs taken one week prior to presentation were read as moderate degenerative changes of the cervical spine with moderate carotid bulb atherosclerosis (Fig. ). Physical examination revealed tenderness to touch of cervical paraspinal muscles and left upper trapezius, and diminished light touch of the left upper extremity. Left anterior chest wall pain was reproduced with manual over pressure of the left lower cervical spine. The provider could not clearly identify the cause of the upper back, chest and arm pain and did not provide any treatment to the cervical region. MRI was contraindicated due to the presence of an implanted pacemaker. Computed tomography was obtained; multiplanar multidetector CT images revealed a large destructive soft tissue mass along the leftward aspect of C6-T1 with frank osseous destruction of the vertebral bodies and transverse processes (Fig. ). An additional lytic lesion was identified within the first right rib (Fig. ). The patient was sent to the emergency department for stabilization and consultation with an orthopedic surgeon. He selected non-operative management and was stabilized with a Miami-J cervical collar. The patient expired 4-weeks following the discovery of these lesions on the CT scan.


Eight years ago a 58-year-old man was compulsorily admitted to our inpatient psychiatric unit because of a severe delirious-manic episode. He had no personal nor family psychiatric history although dysfunctional personality traits (rigidity, irritability, and impulsivity) were recognizable. He had no neurodevelopmental disorders, head trauma, surgery, infections, or exposure to toxic substances.
The manic episode was characterized by irritability, dysphoria, talkativeness, racing thoughts, hyperactivity, distractibility, grandiosity, persecutory delusions, psychomotor agitation, aggressiveness, insomnia, and mental confusion.
A complete medical history was obtained and clinical assessment confirmed long lasting thrombocytopenia, polyclonal gammopathy, hypertensive heart disease, and mild bilateral carotid stenosis. Other medical conditions were excluded and an extensive neuropsychological assessment (Mini Mental State Examination, Raven Coloured Progressive Matrices, Rey Auditory Verbal Learning Test, Semantic and Phonologic Verbal Fluency Tests, Boston Naming Test, Poppelreuter-Ghent's Overlapping Figures Test, and Barrage Testing) did not show any alterations. A brain computerized tomography (CT) scan showed mild diffuse cortical atrophy and small basal ganglia calcifications, but these findings were considered not clinically relevant. Valproate slow release (SR) was started up to 1500 mg/day and sequential add-on antipsychotic medications (haloperidol 12 mg/day, then olanzapine 20 mg/day) were unsuccessfully tried. Finally an antipsychotic switch to quetiapine SR (600 mg/day) yielded rapid and full symptomatic remission. The patient was discharged with a diagnosis of “bipolar disorder-manic episode.” The patient fully recovered returning to premorbid level of relational and personal functioning for the following seven years.
At the age of 65 the patient discontinued medications and relapsed with a delirious-manic episode associated with new emergent hyperkinetic movements. They were involuntary, generalized (involving face, trunk, and limbs), subcontinuous, jerky, choreic, and suppressible only for a few seconds. Behavioral symptoms also reappeared.
The patient was frequently confused, agitated, irritable, hyperactive (he moved abroad without any predefined scope and then came back complaining about jerky movements), and disinhibited (hyperconfidential). He also had visual hallucinations (seeing a woman holding gifts instead of a white sheet over a seat) and strange behavior (suddenly jumping to the ground and shouting for help, asking to eat only meat and honey). In addition he manifested distractibility, delirious episodes, confabulations, insomnia, and poor insight. These symptoms worsened in the evening. The patient also had weight loss and manifested episodes of sudden falls, loss of consciousness, and sphincter release. He was repeatedly visited in emergency room by psychiatrists and neurologists and diagnoses were “tardive dyskinesia,” “psychogenic movements disorders,” “psychosis,” and “dementia.” He was also briefly hospitalized twice in a neurology ward. Further examinations (electroencephalography [EEG], cerebral CT, magnetic resonance imaging [MRI], angio-MRI, neurocognitive tests, and CT-positron emission tomography [PET] total body) were carried out without significant alterations. Cognitive tests were the same used during the first episode and showed deficits of verbal material learning only.
Finally the patient was admitted to our psychiatric unit. A brain CT scan and a brain MRI were repeated with pharmacological sedation. They showed moderate diffuse cortical atrophy, especially in frontal and occipital regions; posterior white matter lesions due to chronic vascular ischemia; and small bilateral pallidal calcifications (). Brain 18[F]fludeoxyglucose PET confirmed a diffuse cortical hypometabolism. We performed further extensive medical examinations which excluded phosphocalcium metabolism alterations, tumors, and infections.
Pharmacological treatment was performed as follows. Firstly, valproate acid SR (1200 mg/day) and quetiapine SR (800 mg/day) were started with good response for behavioral-mood symptoms. Secondly, tetrabenazine was added (up to 75 mg/day) and motor disturbances significantly ameliorated. Furthermore, we noted that every time our patient refused to take medications symptoms markedly and suddenly (<12 hours) worsened especially with reappearance of hyperkinetic movements. The patient recovered and regained partial personal and relational functioning. He was discharged and agreed to admission to a geriatric nursing institute.


Our 33-year-old male Caucasian patient presented with a 3-month history of general symptoms (weakness, excessive sweating, and episodes of low-grade fever) and was admitted to our pulmonology ward with dyspnea due to pneumonia and severe anemia (hemoglobin of 8.5 g/dl). A physical examination revealed enlargement of his right suprasternal lymph node, later excised for histopathology (Fig. ). This confirmed a diagnosis of CD20-positive T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL), an uncommon morphological variant of DLBCL []. The neoplastic cells were CD19-positive, partially positive for CD30, and negative for CD15. At diagnosis, routine computed tomography (CT)-based staging confirmed Ann Arbor stage IVB disease, with generalized lymphadenopathy and hepatosplenomegaly (enlarged lymph nodes of the neck [subclavicular on right side], mediastinum [subcarinal, para-aortic, right pulmonary hilum, left pulmonary hilum], right axilla, and abdomen [celiac, para-aortic, para-iliac, spleen]). He also had sclerotic lesions of the ninth, tenth and twelfth thoracic vertebrae. A lumbar puncture with cerebrospinal fluid analysis excluded central nervous system (CNS) lymphoma involvement; in addition, an increased concentration of total protein showed no sign of oligoclonal bands. Our patient was deemed to have an age-adjusted International Prognostic Index (IPI) score [] of 3 (stage IV, two extra-nodal sites, low lactate dehydrogenase, poor performance status, age <60 years).
Standard R-CHOP immunochemotherapy was administered to our patient as a first-line regimen (Table ). As in all high-risk cases, liposomal cytarabine (DepoCyte 50 mg) was administered via the intrathecal route during the first four cycles for prophylaxis of CNS relapse. A good clinical response was confirmed by CT imaging after the third cycle (partial response; PR), followed by a complete response (CR) after eight cycles (treatment schema, Fig. ) that was confirmed by positron emission tomography-computed tomography (PET-CT). During this first-line therapy, our patient twice developed neutropenic fever, which necessitated prolonged hospital admission, despite granulocyte-colony stimulating factor (G-CSF) primary prophylaxis.
Early relapse was confirmed 5 months after completion of first-line therapy. PET-CT imaging revealed multiple sites of high standard uptake values (SUVs), including the mediastinum blood pool structure (MBPS) and various sites in his head and neck region (parotid glands, palatine tonsils, submandibular lymph nodes), thorax (supraclavicular lymph nodes on the left, paratracheal chain), and abdomen (para-aortic lymph nodes, stomach, spleen, and liver [Deauville 5]). Elevated SUVs were also detected in his skeletal system, although there was no infection, nor G-CSF used, at that time. Radiological examination also revealed a right-side pleural effusion; in the absence of hypoalbuminemia or heart failure, this was also most likely related to the lymphoma.
As second-line salvage chemotherapy, our patient received three cycles of rituximab, etoposide, methylprednisolone, cisplatin, and cytarabine (R-ESHAP; Table ). A PET-CT assessment demonstrated a PR to this second-line chemotherapy. A fourth cycle of salvage chemotherapy was then administered: dexamethasone, carmustine, etoposide, cytarabine, and melphalan (DexaBEAM), followed by ibritumomab tiuxetan, carmustine, etoposide, cytarabine, and melphalan (Z-BEAM)-conditioned ASCT (Table ). This led to a CR, as confirmed by PET-CT. Our patient’s quality of life during second-line treatment and ASCT was poor, due to prolonged hospital admissions and his great concerns relating to potential severe complications of each of the salvage regimens.
At a 3-month follow-up visit after ASCT, our patient presented in good clinical condition and demonstrated weight gain. He had good hematopoietic reconstitution and elevated liver function tests, despite negative tests for hepatitis B and C. Although there were no clinical symptoms of disease or infection, a PET-CT assessment demonstrated increased metabolic activity consistent with early relapse, with high SUVs in the Waldeyer ring (palatine tonsils, pharyngeal tonsil, submandibular lymph nodes), the cervical lymph nodes on his left side, the axillary lymph nodes bilaterally, and his stomach, spleen (with splenomegaly), MBPS, and liver (Deauville 5).
At this point, our patient was enrolled in the MOR208 clinical study. During the first 12 weeks of treatment, MOR208 was administered intravenously at 12 mg/kg, once a week. Peripheral blood lymphocyte immunophenotyping by flow cytometry revealed prompt clearance of B-lymphocytes from his peripheral blood; in particular, a decrease in CD3−, CD56−, CD16−, and CD45+ B-lymphocytes and a compensatory increase in CD45+ and CD3+ T-lymphocytes was observed (Fig. ). Three months after starting third-line MOR208 therapy, PET-CT assessments demonstrated a PR, with only a small number of metabolically active lymph nodes (palatine, cervical on his left side, axillary on his left side, axillary on his right side, lower part of his esophagus, MBPS, liver). Following the scheduled 12 weeks of treatment, MOR208 was continued as maintenance therapy, with administration every second week. PET-CT confirmed a CR 9 months later (Fig. ).
MOR208 was very well-tolerated, with few adverse events. Our patient developed four upper respiratory tract infections, comprising three instances of pharyngitis that required symptomatic treatment and one incident of bronchitis, which necessitated antibiotic therapy (amoxicillin with clavulanic acid). Our patient did not have any hematological adverse events. During treatment with MOR208, our patient’s quality of life and performance status remained high (World Health Organization grade 0, Karnofsky score 100 %). No hospitalizations were required; all procedures were performed in a day clinic. Our patient engaged in full-time work and physical activities. He continues to be well, with an ongoing duration of response of 24 months.


A 39-year-old female presented with pain, burning sensation, and swelling of the left ankle requiring evaluation for a suspected anterior talofibular ligament tear and an osteochondral defect. MRI examination revealed the patient to have a peroneus tertius and quartus, both uncommon anatomic variants. Moreover, a rare high-grade tear injury of the peroneus tertius tendon was identified, which has not been previously reported in the literature.
Increased signal on T2-weighted images was demonstrated in the peroneus tertius tendon sheath with a short segment longitudinal split tear immediately adjacent to its insertion. Additionally there was a high-grade, longitudinal split tear of the peroneus longus tendon and a complex longitudinal split tear of the peroneus brevis tendon (Figure ).
T2 sequences also demonstrated elevated signal around the common peroneal tendon sheath, consistent with tenosynovitis (Figure ). Of note, there was an accessory peroneus quartus muscle (Figure ).


This is a 36-year-old patient with primary sterility, with HSG indications of uterine anomaly (uterus unicornis), with left tube () and left ovary imaged by ultrasonography, normal spermiogram. Right tube was missing and no right ovary was imaged by transvaginal ultrasonography. An IVF procedure was done at a medical centre in the capital city of Sofia on 9.11.2013 by follicular puncture and aspiration of the left ovary. Two egg cells were identified and one embryo developed and was frozen due to pronounced abdominal discomfort of the patient who in the meantime left Sofia. The patient was urgently admitted on the night of 13.11.2013 in Prof. Dr. D. Stamatov Hospital for Specialized Obstetrics and Gynaecology in Varna, Case No 6433, with severe colic like pains in the hipogastrium and collapsic symptoms.
Ovarian torsion after IVF was suspective, as well as development of ovarian hyperstimulation syndrome. Transabdominal ultrasonography showed presence of scarce quantity of ascites, but much to the surprise of the authors of this study and patient herself, also a right ovary was imaged, atypical located immediately next to liver (), and presence of two kidneys. Emerging theca-lutein cysts and ovarian enlargement were noticed ().
The right ovary was not possible to be imaged by transvaginal ultrasonography and therefore the colleagues who performed the IVF procedure failed to notice it.
The patient was under dynamic monitoring, continuous screening of clinical and laboratory parameters, and also infusion and anticoagulant treatment was administered while placed in the Gynaecological Ward. Due to the intimate proximity of the right ovary to the liver and the risk of rupture of the theca-lutein cysts with subsequent intra-abdominal bleeding, an abdominal surgeon was consulted for eventual surgical intervention. Daily ultrasound scans were used to assess size of ovary, cystic formations and quantity of ascites. The patient was discharged on the tenth day of hospitalization in good general condition and minimal abdominal discomfort. Examination on 05.12.2013 showed normal right ovary without presence of cystic formations and no ascitic fluid ().


In February 2014, a 60-year-old woman with type 2 diabetes was referred to our hospital. She was diagnosed with cataract and severe nonproliferative diabetic retinopathy (NPDR) in both eyes. On examination she had best corrected visual acuity (BCVA) 0.02 in the right eye and 0.01 in the left eye. She underwent uneventful phacoemulsification and hydrophilic acrylic IOL (Akreos Adapt AO, Bausch & Lomb) implantation in both eyes. Two weeks after cataract surgery the BCVA in the left eye improved to 0.4. Then she had fundus fluorescein angiography (FFA) and received panretinal photocoagulation in both eyes.
In September 2014, the woman came back with complaint of blurry vision in the left eye. Fundus examination revealed vitreous hemorrhage in the left eye veiling the retinal detail. We performed a 23-gauge vitrectomy with endolaser treatment in the left eye.
Ten months after the vitrectomy (July 2015), the patient complained of decreased visual acuity in the left eye again (the BCVA was 0.1). On slit-lamp examination, we observed a well circumscribed centrally and paracentrally located opacification within the pupillary axis localized to the anterior surface of the IOL (Fig. ). Scheimpflug pictures taken by Pentacam (Oculus) showed increased light scatter on the IOL’s anterior surface (Fig. ).
The IOL was explanted from the left eye together with the capsular bag, and an iris-claw lens (Artisan Aphakia OPHTEC) was implanted (Fig. ). Three days after the operation, the BCVA improved to 0.2.
The explanted IOL was sent to research center of Guangdong Academy of Medical Sciences. The unstained IOL was evaluated and photographed under a light microscope (Olympus Optical Co.,Ltd.). Then the IOL was rinsed in distilled water, immersed in 1.0 % alizarin red solution (a special stain for calcium) for 10 min, rinsed again in distilled water, and reexamined under the light microscope.
Light microscopy showed the presence of granular deposits distributed in an overall round pattern on the anterior surface of the IOL. The granules were stained positive for calcium (alizarin red method) (Fig. ).


This patient is a 48-year-old female who had been complaining of achiness involving the left upper extremity and pins and needles in the left palm for eight months. She also noted intermittent blurring of her vision. A magnetic resonance imaging (MRI) of the C-spine showed multiple flow voids and prominent arteries in the occipital and suboccipital regions. These imaging findings prompted referral for a neurosurgical consultation. Neurologic examination was normal except deep tendon reflexes which were exaggerated. Given her young age, upper limb symptoms and hyperreflexia, an angiogram was done to rule out a dural AV fistula. The right internal carotid artery angiogram clearly demonstrated a transosseous vein draining from the torcula through the occipital bone into the suboccipital cranial plexus with no drainage into the coronal venous plexus and no retrograde venous drainage into the spinal cord (Figure ). This venous drainage from the torcula occurred during the normally timed venous phase. Multiple dilated venous channels were also noted in the suboccipital region (Figure ). No further treatment was indicated as this finding did not have any bearing on the patient’s clinical presentation.


A 33-year-old man presented to the emergency department ED) with complaint of 2-day history of abdominal pain. His pain developed with gradual onset prominently in epigastric area after eating dried mushrooms. The pain was diffuse, persistent, radiating to the back and aggravated by meal. He had been tolerating only liquids and had complaints of nausea and vomiting. He had no history of diabetes mellitus, hypertension, alcohol consumption, malignancy, or prior surgery. On arrival his blood pressure was 128/72 mmHg, with a heart rate of 101 beats/minute and a respiratory rate of 20 breaths/minute. He was afebrile. Physical examination revealed diffuse abdominal distention, hyper-pitched bowel sounds, and tenderness more marked over the umbilicus with no guarding or rebound tenderness. A complete blood cell count showed the following: leukocyte count 12600 /mm3; segmented neutrophils 90%; hemoglobin level of 14 mg/dl; hematocrit 30%; and platelet 420000/µL. Other laboratory studies included: glucose 101 mg/dL; serum urea nitrogen 45 mg/dL; serum creatinine 2.0 mg/dL; sodium 148 mEq/L; potassium 3.1 mEq/L; serum glutamic oxaloacetic transaminase (SGOT) 38 U/L and lipase 30 U/L. shows patient’s plain upright abdominal X-ray as well as coronal and axial cuts of abdominal CT scan.
What is your diagnosis?
Diagnosis:
Abdominal CT scan showed multiple masses with peculiar shape (, arrows) in stomach and ileum. Post contrast CT scan showed peculiar shape masses impacting the bowel on the middle side of the abdomen with dilated small intestine above that level. The CT scan finding was consistent with evidence of a mechanical obstruction.
Case fate:
The patient underwent conservative treatment such as nasogastric suction, decompression, aggressive intravenous fluids, bowel rest and antibiotics for 3 days. The undigested mushrooms had passed through later. He had an uneventful recovery with no complications.


An otherwise fit and healthy 56-year-old man presented to the emergency department with a week history of generalized abdominal pain associated with nausea and anorexia. Examination revealed generalized peritonitis. Erect chest X-ray showed extensive free air under both hemidiaphragms suggesting a perforated viscus while C-reactive protein and white cell count were raised at 368 mg/L and 20.16 × 109/L, respectively.
He was resuscitated with intravenous fluids, analgesia, commenced on empiric antibiotics (1.2 grams of amoxicillin/clavulanic acid and 500 milligrams of metronidazole, three times a day) and scheduled for urgent surgery. Initially, a laparoscopic approach was employed but converted to open due to technical difficulties. Intraoperative findings included multiple intraperitoneal abscess cavities and an inflamed and thickened sigmoid colon. The perforation was not distinctively identified and was thought to be sealed within the thickened sigmoid colon. Hartmann's procedure was performed, abscesses were drained, aspirate was sent for culture, and peritoneum copiously lavaged.
The patient had a slow postoperative recovery on ICU with persistently raised inflammatory markers (C-reactive protein > 200 mg/L and white cell count > 15 × 109/L) which necessitated changing antibiotics to 4.5 grams of piperacillin/tazobactam, three times a day. Peritoneal aspirate was positive for S. milleri and a scanty amount of E. coli after 48 hours of culture; following this, weight-tailored doses of gentamicin were added. Histopathology analysis of the sigmoid specimen revealed evidence of perforated diverticulum. CT scan on the 5th postoperative day showed extensive multiloculated gas and fluid collection in the left abdomen extending from the diaphragm to the pelvis.
Percutaneous drainage of this collection was performed, following which the patient made remarkable clinical progress initially. However, shortly after, he developed pyrexia and abdominal pain. Repeat CT scan showed a reduction in the size of the left flank and pelvic collections but presence of a left subphrenic collection. Due to lack of clinical improvement over the following days with continued antibiotics, another drain was into the left subphrenic collection. He made good clinical improvement, drain output reduced and inflammatory markers normalized. After a total course of about 2 weeks of IV antibiotics, he had the flank drain removed and was discharged with oral antibiotics. On follow-up in the clinic after 2 weeks, he was clinically well and the subphrenic drain was also removed.


The patient was a 51-year-old HIV positive male who received deceased liver transplantation for end-stage liver disease secondary to HCV genotype 1a. In 1998, 2000, and 2005 prior to his transplant, his HCV infection was treated with a combination of interferon or peginterferon and ribavirin. However, on all three occasions, he failed treatment because of truncated treatment duration due to significant adverse reactions, notably treatment-related cytopenias. One year after transplant, he developed moderate graft fibrosis secondary to HCV recurrence confirmed by a liver biopsy. It was decided to defer therapy at that time as treating his HCV with the available agents, the first-generation protease inhibitors telaprevir, or boceprevir in combination with peginterferon and ribavirin, was deemed potentially futile due to previous significant adverse reactions to pegylated interferon. Over the ensuing 22 months, his liver function deteriorated as his graft fibrosis progressed. Transient elastography (Fibroscan, Echosens/KNS Canada, Toronto, ON) showed advanced fibrosis with a stiffness score of 12.4 kPa (F3 to F4 fibrosis where F4 is cirrhosis). In addition, his renal function declined rapidly reaching stage 4 chronic kidney disease which prompted a renal biopsy confirming immune complex mediated membranoproliferative glomerulonephritis presumed to be secondary to HCV infection. Initiation of HCV therapy was felt to be clinically urgent to prevent progression of both hepatic and renal disease. At this time, the second-generation HCV NS3/4A protease inhibitor simeprevir and the NS5B polymerase inhibitor sofosbuvir had recently been approved by Health Canada. The lack of safety data and inexperience using simeprevir and sofosbuvir in the setting of liver transplantation, HIV coinfection, and near-end-stage renal disease made treating this patient very challenging. A multidisciplinary team was involved in deciding to treat this patient, and informed consent was obtained from the patient. Both simeprevir and sofosbuvir were obtained through their respective manufacturers on compassionate grounds.
His antiviral and immunosuppressant medications consisted of 400 mg raltegrevir, 600 mg abacvir, 300 mg lamivudine, and 0.5 mg tacrolimus once daily and 500 mg mycophenolate twice daily. The patient also had a number of other comorbidities (epilepsy, hypertension, hypothyroidism, and type 2 diabetes) that were treated with the appropriate medications. His liver biochemistry prior to initiating HCV treatment is listed in . Additional molecular analysis of his genotype 1 HCV revealed presence of the Q80K polymorphism. At the outset of treatment, his HCV viral load was at 3,771, 626 IU/mL (lower limit of detection 15 IU/ML). His HCV treatment consisted of a 24-week regimen of simeprevir 150 mg once daily, sofosbuvir 400 mg once daily, and renally adjusted ribavirin 200 mg once daily. He was monitored as an outpatient on a weekly basis for the first month and then biweekly thereafter. The ribavirin dose was decreased to every other day at week 14 of treatment due to anemia, with hemoglobin of 86 g/L despite weekly darbepoetin administration. Ribavirin was eventually discontinued at week 15 due to persistent symptomatic anemia. Discontinuing the ribavirin did not make any difference in his hemoglobin and he continued to be maintained on weekly darbepoetin administration. His HCV viral load was undetectable by week 4 and remained undetectable 6 and 8 months following his last dose of treatment. Adverse effects consisted of nausea, insomnia, and fatigue, which were tolerated during the treatment.
Unfortunately, the patient's renal function steadily deteriorated over the course of treatment. Despite successful HCV eradication, his renal dysfunction progressed to ESRD requiring dialysis 3 months following HCV treatment completion. The nephrology service did not feel that his progression to ESRD was aggravated by the antiviral agents used to treat his HCV. From a liver perspective, there was significant improvement in his liver biochemistry, and he was deemed cured of HCV, as his viral load remained undetectable 8 months after the end of treatment.


A 54-year-old female hospital worker with a history of gout and valvular heart disease with moderate mitral regurgitation presented to the emergency department with a 1-month history of intermittent left foot pain and numbness extending from the knee to the calf region. She then developed acute upper respiratory tract infection, presenting with sore throat, rhinorrhea, and productive cough 11 days prior to admission. Subsequently, she had visited the orthopedic and neurology outpatient department 7 days prior to admission because of progressive numbness in the left calf region and limited range of motion when lifting her left foot, with symptoms persisting despite meticulous examination and treatment. She experienced poor appetite, general malaise, progressive arthralgia, and myalgia, particularly in the left foot. She had also called the dermatology outpatient department 3 days prior to admission because of progressive petechiae and purpura formation on her left plantar region. The patient used anxiolytic agents and sleeping pills. She denied the use of illicit drugs. She had no recent history of traveling. Besides, she had dental extraction 2 years ago with proper dentition. Physical examination revealed normal body temperature (35.9 degrees Celsius), rapid heart rate (110 beats/min), and low blood pressure (71/46 mmHg). The facial skin was intact, and there was no erythema, rash, or blisters. Examination of the oral cavity revealed an edematous tongue, pharynx, and buccal mucosa with no appearance of mucositis. Neck stiffness and localizing neurological signs were not observed, and her Glasgow coma score was 14. No redness of eye, vision changes, conjunctival suffusion, or Roth spots were noticed in eye examination. Her left lower limb examination was unremarkable with respect to soft tissue or skeletal injury. No desquamation of palms, Osler's node, or Janeway lesion was observed. Purpura on the left plantar region in the absence of blisters was observed 3 days prior to admission (), and petechiae on the lower abdomen () and the left knee region () were noticed 5 days prior to admission. The arms, posterior back, and right leg did not have any skin rash. No obvious pitting edema over the left lower limb and knee joint was noted (). No joint effusion or bone pains were noticed. Palpation of the soft tissues was nontender, with no signs of grimacing or withdrawal, and the consistency was soft with no signs of compartment syndrome. Active movements at the hip, knee, and ankle joints were within the normal range and not associated with pain. All peripheral pulses were normal with satisfactory capillary circulation. No dysesthesia or loss of proprioception was noticed in the lower extremity. Laboratory investigation revealed mild anemia with a hemoglobin of 109 g/L (normal range, 115–155), platelet count of 175 × 109/L (normal range, 150–400), leukocytosis with a white blood cell count of 25.0 × 109/L (normal range, 4.0–11.0), and a marked elevation of neutrophils (93.8%). Total bilirubin was 4.27 μmol/L (normal range, 5.1–17.1), alanine aminotransferase was 0.78 μkat/L (normal range, 0.11–0.86), aspartate aminotransferase was 0.43 μkat/L (normal range, 0.21–0.65), creatinine was 106.7 μmol/L (normal range, 53.3–99.1), C-reactive protein was 114.8 nmol/L (normal, <9.5), and albumin was 15 g/L (normal range, 35–57). Urine examination showed mild proteinuria, leukocyturia, and erythrocyturia.
Initial chest X-ray revealed an increased lung marking over the right lower lung. A provisional diagnosis of cellulitis was made, and, upon microbiological advice, treatment was commenced with oxacillin (2 g) administered intravenously every 4 h as an empirical regimen. The patient started to have hemoptysis, developed hypotension, and progressive respiratory distress within 2 hours after admission. She was transferred to the intensive care unit (ICU) in acute respiratory failure (arterial blood gas analysis revealed a pH of 7.233, a pCO2 of 63.5 mmHg, and a pO2 of 44.4 mmHg with an FiO2 of 40%) and was intubated and placed on a ventilator. A second chest X-ray showed bilateral consolidation with a snowflake pattern (). Subsequently, the patient was placed on a lung-protective strategy and shifted to broad-spectrum antibiotics, including vancomycin (1.0 g) administered intravenously every 12 h, ceftriaxone (2.0 g) administered intravenously every day, and ciprofloxacin (400 mg) administered intravenously every 12 h. Chest computed tomography demonstrated diffuse alveolar and bilateral lung interstitial infiltrations with a presentation compatible with acute respiratory distress syndrome (ARDS; ). While arriving at the intensive care unit, she developed unstable atrial fibrillation and returned to sinus rhythm after administration of antiarrhythmic agents (amiodarone) and three series of successful cardioversions. Transthoracic echocardiography showed mild to moderate mitral regurgitation and no evidence of vegetation. Because of the occurrence of refractory ARDS with severe hypercapnia and hypoxemia, the patient received 3 h of venovenous extracorporeal membrane oxygenation (ECMO) 1 day after admission (arterial blood gas analysis revealed a pH of 7.523, a pCO2 of 24.8 mmHg, and a pO2 of 50.3 mmHg with an FiO2 of 100%). Despite the administration of inotropic agents and high-dose norepinephrine, the patient succumbed to the disease after progressive bradycardia and fulminant shock.
Because of episodes of hemoptysis and a clinical picture of probable alveolar hemorrhage, we requested a complete infectious survey for possible etiology, including sputum culture, tuberculosis/acid fast stain, serology with enzyme-linked immunosorbent assay (ELISA) for Hantavirus, microscopic agglutination test for leptospirosis, and ELISA for human immunodeficiency virus (HIV), which eventually yielded unremarkable results. Autopsy was unavailable because of denial from the family; thus no objective evidence of bacterial endocarditis from heart tissue was obtained. The growth of S. gordonii was observed by 2 sets of blood cultures collected 4 hours apart using Becton Dickinson Diagnostic Instrument Systems (BACTEC). The blood culture was done on admission and showed positivity 3 days later. The bacterial isolates showed susceptibility to clindamycin, ceftriaxone, vancomycin, erythromycin, and levofloxacin.


A 68-year-old male presented to his family physician with a five-week history of nonbloody diarrhea, vomiting, and a 20 lb weight loss. Three days previously he had been seen by ophthalmology with new onset right eye pain, redness, and light sensitivity and diagnosed with severe right nongranulomatous anterior uveitis. He was treated with homatropine, dexamethasone, and prednisolone eye drops. He had no fevers, joint pain, skin changes, or recent travel. Past medical history included kidney stones, hypertension, and bioprosthetic aortic valve replacement three years earlier for severe aortic stenosis. He had been on olmesartan/hydrochlorothiazide 40/12.5 mg daily for 3-4 years. Other medications included ASA 81 mg twice weekly, vitamin C daily, multivitamin daily, cod liver oil daily, and acetaminophen as needed. Blood work ordered by his family physician included an elevated creatinine at 474 μmol/L. He was sent to the emergency department and admitted for an acute kidney injury presumably secondary to dehydration. Physical examination was unremarkable. He had normocytic anemia (hemoglobin 120 g/L), normal albumin (40 g/L), normal electrolytes, and nonanion gap metabolic acidosis. Creatinine improved to 77 μmol/L with intravenous fluids over 5 days. Stool was negative for culture, parasites, and Clostridium difficile. Anti-tissue transglutaminase (TTG) antibody was negative with normal immunoglobulin A levels. Biopsies of the distal duodenum and duodenal cap revealed marked villous blunting with near complete villous atrophy of the small intestinal mucosa in some areas (). There was an increase in intraepithelial lymphocytes as well as neutrophils in the surface epithelium. The crypts had a prominent increase in apoptosis.
In hospital, his uveitis improved considerably and he was reassessed by ophthalmology. A diagnosis of idiopathic bilateral anterior and intermediate uveitis was confirmed after negative workup for syphilis, Lyme disease, sarcoid, and tuberculosis. The uveitis resolved at 16 weeks with a taper of prednisolone eye drops.
The patient's diarrhea resolved within 2 weeks of olmesartan discontinuation. His anemia improved to baseline and he returned to his previous weight within 3 months. Follow-up endoscopy 14 weeks later demonstrated complete resolution of the duodenal inflammatory changes and restoration of normal villous architecture ().


This patient is a 35-year-old male with no significant past medical history who presented to the emergency department with symptoms of “redness and swelling in his eyes associated with purulent discharge” that had failed to improve on outpatient antibiotic regimen. On further history, patient revealed that for about a year and a half, he had been experiencing grittiness and a “bulging” feeling in his eyes that he thought were due to seasonal allergies as well as loss of balance when standing or walking. His ophthalmologist had ordered an orbital CT scan that revealed retroorbital soft tissue masses. An outpatient biopsy of these masses was nondiagnostic and the patient was subsequently admitted for further evaluation. On physical exam, the patient had bilateral erythematous conjunctiva associated with exophthalmoses without any evidence of lid lag or thyromegaly. Cardiovascular and pulmonary examinations were normal. There was no hepatosplenomegaly or palpable lymphadenopathy. Laboratory values on admission were notable for leukocytosis of 21 × 103/uL (nL ≤ 10 × 103/uL), normal erythrocyte sedimentation rate of 10 mm/hr, elevated C-reactive protein of 2.7 mg/dL (nL < 1 mg/dL), normal thyroid stimulating hormone level of 3.13 u/IU/mL, and a normal lactate dehydrogenase level of 121. He tested negative for HIV. Flow cytometry studies performed on peripheral blood did not reveal any abnormalities.
The patient was initially started on intravenous antibiotics for suspected preseptal cellulitis of the orbit. He subsequently underwent a CT scan of the abdomen and pelvis with oral contrast (OMNIPAQUE 300 milliliters), a radiographic bone survey, and a contrast (MAGNEVIST (Gadopentetate Dimeglumine) 15 milliliters) enhanced MR of the brain and orbits. The radiographic metastatic survey yielded diffuse and bilateral appendicular permeative lucencies mixed with sclerosis (Figures
–). The CT of the orbits revealed bilateral soft tissue mass-like lesions in the retrobulbar orbits involving intraconal and extraconal compartments (). On MR imaging, these masses were heterogeneously hyperintense on T2-weighted imaging, homogeneously hypointense on T1-weighted imaging, with homogeneous enhancement on postcontrast imaging (Figures
–). An expansile mass-like lesion in the pons was also noted which was heterogeneously hyperintense on T2-weighed imaging and demonstrated heterogeneous enhancement on contrast administration (Figures and ). The contrast-enhanced CT of the abdomen demonstrated a rind of soft tissue covering the lateral and posterior margins of the aorta extending from below the level of the renal arteries down to the aortic bifurcation and proximal right common iliac artery (). This classically gave an appearance of a “coated aorta.” Additionally, a ring of enhancing soft tissue surrounding the bilateral kidneys, extending towards the renal sinus and constricting the proximal ureters and renal pelvises, was also seen on the CT abdomen giving the classic appearance of a “hairy kidney” (). Lastly, as part of the workup of ECD, a cardiac MR was performed that revealed a small pericardial effusion with a heterogeneously enhancing soft tissue mass measuring approximately 3.6 × 3.4 cm abutting the right atrium (Figures and ). The patient subsequently underwent a CT guided bone biopsy of a right distal metaphyseal lesion which yielded sclerotic lamellar bone with marrow fibrosis and histiocytic infiltration consistent with ECD.


A 7-year-old female presented with bilateral profound sensorineural hearing loss. She had a history of low birth weight (2190 grams), operation for congenital diaphragmatic hernia, and no automatic auditory brainstem response while in the neonatal intensive care unit.
After being discharged from hospital, thorough examinations were performed by otolaryngologists. Physical examinations revealed normal auricles, external auditory canals, and tympanic membranes. Her neck motion was normal and no systemic malformations were detected. Audiologic tests including auditory brainstem response, auditory steady state response, and conditioned orientation reflex audiometry with and without hearing aid revealed bilateral profound sensorineural hearing loss. Computed tomography (CT) and magnetic resonance imaging of the temporal bones showed no inner or middle ear malformation. The patient did not have Down syndrome and had no apparent mental and growth retardation. Given the diagnosis of congenital deafness, hearing aids were provided to the patient when she was 6 months old. The patient was reevaluated 10 months after; however, any efficacy of the hearing aids could not be demonstrated.
We explained to the family that CI was recommended before the patient reached the age of 2 years; however, approval of the operation could not be obtained. CI in the right ear was eventually performed when the patient was 7 years old. There were no complications, and the intraoperative change in neck position was minimized. The length of anesthesia and operation was 255 min and 170 min, respectively. After surgery, the patient had no neurological deficits.
The day after surgery, the patient complained of dull neck pain in her right side. Physical examination showed no mass but weak, bilateral neck tenderness. Neck movement was restricted and her head was tilted to the right side, rotating to the other. Conservative therapy with oral acetaminophens was applied, but clinical features remained.
On the 5th day after surgery, the patient consulted an orthopedic specialist. Three-dimensional CT (3DCT) revealed asymmetry in atlantoaxial joint and rotation of the atlas with the odontoid process acting as pivot (). These findings lead to the diagnosis of AARF, and the patient was treated with indirect cervical traction at bedside for 1 week, and she was eventually discharged with a soft cervical collar for another week. Follow-up 3DCT showed normal appearance of the atlantoaxial joint (). Her neck moves normally with no pain.


An 74-year-old Thai male had intermittent blurred vision, red eye and pain in the right eye for 5 days. He had a history of phacoemulsification with a posterior chamber intraocular lens in the right eye 25 years previously. Initial slit-lamp biomicroscopy in the right eye revealed elevated intraocular pressure (IOP) with posterior capsular opacification. He was treated by Nd:YAG laser capsulotomy and topical anti-glaucoma medications (Bimatoprost Ophthalmic Solution 0.03 %; Brimonidine tartrate 0.15 %; Timolol maleate 0.5 %). However, the patient’s symptoms were not improved and he was referred to our center. Best corrected visual acuity was 20/200 OD and 20/100 OS. Slit lamp biomicroscopy in the right eye revealed corneal edema, iris bombé without detectable posterior synechaie. Slit-lamp biomicroscopy in the left eye was unremarkable. His IOP was 46 mmHg OD and 12 mmHg OS. Gonioscopy revealed a convex iris with 360° peripheral anterior synechiae prominent Soemmering ring behind the iris OD and widely opened angle OS (Fig. ).
A-scan ultrasound biometry showed shallow central anterior chamber depth (ACD) in the right pseudophakic eye (Axial length (AXL) = 26.81 mm; IOL; Anterior chamber depth (ACD) =1.87 mm), and normal central anterior chamber depth in the left eye (AXL = 26.68 mm; Lens thickness (L) = 4.66 mm; ACD = 3.35 mm). Condensing lens ophthalmoscopy revealed tigroid fundus with full cupped optic disc OD and cup to disc ratio 0.4 OS.
B-scan ultrasound biomicroscopy demonstrated a large circumferential structure behind the posterior iris surface with pupillary block (Fig. ).
Therapeutic laser iridotomies (LPI) without capsular penetration was performed at 2, 6 and 10 o’clock OD in order to avoid aqueous loculation from undetectable septums between posterior iris surface and anterior portion of Soemmering ring. Immediately repeated gonioscopy showed an opened anterior chamber angle more than 210° (Fig. ). Repeated A-scan ultrasound biometric measurements showed a deepened ACD OD (AXL = 26.89 mm; IOL; Vitreous length (V) = 22.28 mm; ACD = 3.25 mm). Postoperative slit-lamp biomicroscopy showed marked pseudophacodonesis. Post LPI IOP was decreased to 10 mmHg with deepened anterior chamber (AXL = 26.58 mm; L = 0.62 mm; V = 21.83 mm; ACD = 3.68 mm) and gonioscopy revealed resolution of pupillary block and an opened anterior chamber angle more than 270°. IOP could be controlled with two topical antiglaucoma medications.


An 81-year-old Thai female presented with a painless visual loss in the right eye. She had a history of phacoemulsification with intra-ocular lenses implantation of both eyes and Nd:YAG laser capsulotomy after the surgery. The patient was treated for chronic glaucoma and was taking latanoprost 0.005 % and timolol maleate 0.5 % OD. Best corrected visual acuity was to count fingers at 3 ft OD and 20/40 OS. IOP was 32 mmHg OD and 6 mmHg OS. Slit lamp biomicroscopy revealed shallow anterior chamber OD, while OS was unremarkable. A-scan ultrasound biometric measurement showed ACD was 1.61 mm OD and 3.79 mm OS. Gonioscopy revealed 360 degree-peripheral anterior synechiae OD and normal opened angle OS (Fig. ). Ultrasound biomicrosopy revealed a large hyperechoic structure in apposition to the posterior iris surface (Fig. ). Therapeutic laser iridotomy was performed in the 6 o’clock positions which is the most protruded area. We found the anterior chamber was deepened immediately. Subsequent gonioscopy found opened anterior chamber angle more than 210° and particles of a Soemmering ring, appearing as part of a secondary cataract, moving into the anterior chamber through the iridotomised hole (Fig. ). A-scan ultrasound biometric measurements showed the anterior chamber was deepened (ACD = 3.25 mm) OD. At last follow up, her IOP was controlled by two topical ocular hypotensive medications.


A 64-year-old Thai female presented with a painful visual loss in the right eye for 1 week. She had a history of acute angle closure glaucoma OD and also had a history of phacoemulsification, intraocular lens implantation, and goniosynechialysis 5 years previously. Her visual acuity was 20/40 OD and 20/20 OS, IOP 30 mmHg OD 12 mmg OS. Slit-lamp biomicroscopy revealed protruding Soemmering content via pupillary aperture into anterior chamber (Fig. ). Protruded Soemmering content led to pupillary block which had been relieved by therapeutic laser iridotomy. Post-operative gonioscopy showed an opened anterior chamber angle. Residual Soemmering content was removed by anterior chamber aspiration. Her IOP was under the normal range without antiglaucoma medication.


A 78-year-old male was referred to our hospital because of frequent palpitation. Holter electrocardiography (ECG) revealed a narrow QRS tachycardia with regular 170 beats per minute (bpm) (). His 12-lead ECG showed normal sinus rhythm and intermittent complete right bundle branch block. The transthoracic echocardiography (TTE) showed normal ventricular function and no remarkable abnormality in intracardiac structure, although the observation was quite limited by attenuation artifacts caused by ribs and lung.
After written informed consent was obtained, he underwent an electrophysiological study (EPS) under weak sedation with intravenous infusion of midazolam. Initially, a multipolar electrode catheter was introduced from the right femoral vein and positioned at the coronary sinus (CS). When the tip of electrode catheter attached to the RA wall, a supraventricular tachycardia (SVT) with heart rate of 133 bpm was induced immediately after the jump-up phenomenon (Figures and ), suggesting a slow-fast atrioventricular nodal reentrant tachycardia. However, since the heart rate of previously detected SVT was 170 bpm, which was quite higher than the catheter-induced SVT, this patient had potentially two or more different types of SVT. Furthermore, this patient had a small Koch's triangle, and the precise anatomical location of His bundle during slow pathway potential ablation had to be confirmed to avoid procedure induced atrioventricular block. Thus, we decided to use electroanatomical 3D mapping system (EnSite Velocity system, St. Jude Medical, St. Paul, Minnesota). To make geometry of the RA, we used Reflexion HD™ catheter (St. Jude Medical, St. Paul, Minnesota), a duodecapolar multiloop intracardiac mapping catheter, through Agilis™ steerable guiding introducer (St. Jude Medical, St. Paul, Minnesota).
During an electroanatomical mapping of the RA, the head of mapping catheter was entrapped nearby the ostium of inferior vena cava. Rotation and traction of the catheter failed to detach the catheter head from the RA wall. Because frequent SVTs which were provoked by mechanically induced supraventricular premature beats disturbed our catheter removal procedure, we initially tried to treat SVT.
Since the intracardiac ECG at the initiation and during SVT was compatible with slow-fast atrioventricular nodal reentrant tachycardia (), the radiofrequency (RF) application targeting the inferior side of Koch's triangle, the anatomical approach of the slow pathway, was delivered targeting at 50 degrees with a maximum setting of 30 W (Blazer II, Boston Scientific, Natick, Massachusetts) with careful attention not to induce atrioventricular block. After 4 times of RF application, the SVT could never be induced.
Right atriography revealed that the entrapped catheter was distant from tricuspid valve and the catheter traction did not deform the RA shadow (Figures and ). The traction of the entrapped catheter did not induce supraventricular or ventricular premature beats. Thus, we decided to pull apart the catheter tip from twined connective tissues by using the forceps which were designed for endomyocardial biopsy (6 Fr 105 cm Biopsy Forceps, Technowood, Tokyo). We initially exfoliated the connective tissue twined around the catheter tip using the forceps (), pulled the catheter vigorously, and finally succeeded to retract and remove the catheter without any complications and surgical intervention. In the macroscopic finding, the fascicular connective tissue twined around the tip of the multiloop mapping catheter (). Later, the microscopic examination revealed an accumulation of interstitial tissue including elastic fiber and a patchy distribution of cardiomyocytes (Figures –), which are compatible with Chiari's network [].
Finally, we confirmed that the dual atrioventricular nodal physiology disappeared and any SVTs were not induced even under the isoproterenol infusion. The postprocedural transesophageal echocardiography (TEE) showed residual floating structures in the RA (), suggesting the disrupted tissue of Chiari's network.


A 15-year-old female child reported to the Department of Pedodontics and Preventive Dentistry, Subharti Dental College, Meerut, with the chief complaint of mild to moderate pain on the inner side of both the cheeks since 1 month. After a set of questions which were asked to the child, she appeared to be very stubborn. Intraoral examination revealed tender diffused white flaky elevations on both sides of the buccal mucosa at the level of the occlusion which were extending anteroposteriorly from the corner of the mouth up to 2nd permanent molar (). The medical history revealed that patient had no systemic illness. Also the personal history of the patient revealed that the patient had the habit of intense cheek biting, often leading to bleeding from the cheeks. Therefore, after counseling the patient, an immediate interception was planned with a unique removable cheek biting appliance.


A 4.5-year-old South Indian female child presented to the outpatient clinic with a history of multiple vesicular and bullous lesions induced by trauma since perinatal period. The child was born out of a third degree consanguineous marriage with no known history of similar illness. The child had severe blistering and scarring all over the body, nail dystrophy and milia. The oral mucosa was involved along with tongue blistering, dental calculus, and chipping of teeth with difficulty in opening the mouth. The child also had flexural deformities resulting in contractures and pseudo-syndactyly of the fingers. The clinical picture (
) corroborated the diagnosis of dystrophic epidermolysis bullosa (DEB). There is no center in India offering genetic diagnosis for the disease using targeted gene sequencing. Given that targeted gene sequencing can be quite expensive, tedious and time-consuming to standardise, we attempted whole-exome sequencing (WES). Moreover no background genetic map of mutations in the disease from India was available. Previous reports, including from our laboratory suggest WES as an alternative to traditional approaches; WES is fast, less tedious, and cost-effective and also provides a holistic view of the mutation spectrum in the patient
.
Approximately 5 ml of blood was collected from the affected individual and the parents after obtaining signed informed consent and approval from the institutional ethical committee (BSC0212 IHECC proposal No.08). Genomic DNA was isolated by using salting out method
. 50ng of high quality DNA was used for whole exome sample preparation using a Nextera (Illumina Inc, USA) expanded exome kit according to manufacturer supplied instruction. The exome was sequenced using Illumina Hiseq2500 according to the manufacturer’s protocols (Illumina Inc, USA). Paired-end reads of 150 bases were generated, which was quality and adapter trimmed at a Phred quality score of 20. Alignment was performed on the human reference genome (hg19) using Burrows-Wheeler Alignment (version 0.5.10-evan.9)
. The mean mapped coverage on target region was 12.2x. Variants were called using Platypus pipelines (version 0.7.9.1)
. Analysis revealed a novel homozygous frameshift deletion (chr3:g.48610366CT>-) c.6759_6760del (p.G2254fs) in
COL7A1 gene. The c.6759_6760del was predicted to be deleterious (confidence score 0.858) and introduce a premature termination codon (PTC) at 2273
th amino acid position according to SIFT
. Homozygous PTCs in
COL7A1 is previously reported to reduce overall stability of anchoring filaments and cause mild to very severe generalised RDEB
. Secondary structure analysis shows that p.G2254fs resultant PTC leads to loss of function of several collagen triple helix repeats and kunitz domain (
). We also found a homozygous nonsynonymous variation c.5716C>T (p.P1906S) in COL7A1, which was predicted to be ‘tolerated’ by SIFT (0.5)
.
The variant was verified independently using capillary sequencing in the child and parents. The variant was not found in ExAC or our internal cohort of 122 exomes, confirming its rarity and novelty. Parents were provided detailed genetic counselling by the consulting clinical geneticist.


A 68-year-old lady of an African American descent presented to the office with complains of unintentional weight loss of thirty pounds over the last year. She had a history of follicular lymphoma that had transformed to a diffuse large B-cell lymphoma (DLBCL) diagnosed more than 20 years ago. It was treated with eight cycles of chemotherapy (cyclophosphamide, daunorubicin, vincristine, and prednisone) followed by radiotherapy. She underwent complete remission with no evidence of recurrence until now.
She was noted to have pancytopenia in September 2014. Owing to a concern for the recurrence of lymphoma, a positron emission computerized tomography (PET–CT) was obtained which revealed a mass in her psoas muscle. Biopsy of the mass showed the presence of a few macrophages and failed to reveal any evidence of malignancies or reoccurrence of lymphoma.
The patient then started noticing further weight loss and decrease in her appetite since, and presented to the office again after a year. A repeat PET–CT was performed which demonstrated an overall enlargement of the left iliac and psoas muscles (Fig. ). The FDG-uptake (fluorodeoxyglucose -uptake) along the left rectus femoris muscle had increased to 12 from the previous value of 9.2. The thickness had also increased to 3 cm from the previous 2 cm last year. A new area of uptake was also noted in the left gluteus medius muscle that had an uptake value of 7.9.
Core biopsy of the masses performed thereafter revealed fibrosis with sparse lymphocytic infiltrate and hemosiderin deposition, unremarkable plasma cells, without evidence of a lymphoma (histopathology slides 1–3). A quantitative IgG was performed that showed a value of 2030 mg/dL (reference range: >19 years of age 700–1600 mg/dL). IgG4 subclass was also significantly elevated at 1022 (reference range 7–89). Workup for multiple myeloma was negative with serum protein electrophoresis showing a chronic inflammatory pattern and did not identify a monoclonal protein, but rather a polyclonal increased in IgG. Other laboratory investigations were as follows: Creatinine 0.75 mg/dL, LDH 135 U/L, BUN 18 mg/dL; (reference ranges: 0.6–1.1 mg/dL, 140-280 U/L, 7–20 mg/dL, respectively).
The patient was seen in consultation, and a recommendation was made to treat her with steroids after discussing her case with the pathologist.


This patient was a 64-year-old man who had previously undergone partial ileal resection due to intestinal obstruction and partial peritonitis at the age of 30. He had since been admitted to other hospitals because of repeated temporary obstructions at the anastomotic site. At the age of 62, the patient was referred to our hospital with recurrent severe abdominal pain and exacerbation of CD. The patient had no history of lung disease, occupational exposures, or extraintestinal manifestations and no family history of CD. Physical examination revealed the following: body temperature, 39.2°C; hemoglobin oxygen saturation as measured by pulse oximetry, 99%; and blood pressure, 100/66 mmHg.
A small bowel series showed longitudinal ulcers and strictures at the ileal anastomotic site. Colonoscopy and pathological examination of a biopsied ulcer specimen showed moderate to severe inflammatory cell infiltrates with some epithelioid granulomas in the lamina muscularis mucosae and submucosa. Based on these findings, CD was initially diagnosed. ADA induction therapy was then initiated at 160/80/40 mg every other week [] and afforded complete remission. Two years later, the patient was admitted to our hospital due to rapid exacerbation of productive cough, accompanied by fever of up to 39.2°C, and findings on chest radiography of patchy bilateral consolidation and ground glass opacities (). Laboratory investigations showed the following: white blood cell count, 13,800/μL; red blood cell count, 386 × 104/μL; hemoglobin, 10.7 g/dL; total protein, 5.3 g/dL; albumin, 2.1 mg/dL; aspartate aminotransferase, 58 IU/L; alanine aminotransferase, 34 IU/L; C-reactive protein, 22.2 mg/dL. Low albuminemia was due to severe inflammation and loss of appetite. Negative results were obtained from tests for influenza virus types A and B, Aspergillus antigen, (1→3)-β-D-glucan, QuantiFERON, and cytomegalovirus antigenemia C-7HRP. Sputum cultures isolated Streptococcus pneumoniae and α-hemolytic streptococcal species (). Chest computed tomography (CT) revealed patchy consolidations, ground glass opacities, and small nodular opacities, predominantly in the middle, lingula, and bilateral lower lobes (Figures and ). Based on these findings, we considered a diagnosis of bacterial pneumonia due to streptococcal species. Despite antibiotic treatment with intravenous piperacillin-tazobactam and meropenem and supportive care for 14 days, respiratory symptoms remained unimproved and radiographic findings gradually deteriorated. A transbronchial lung biopsy from a right lung lesion showed fibrous thickening of the alveolar wall and intra-alveolar buds of granulation tissue associated with fibroblasts (). Based on these findings, a final diagnosis of OP associated with CD was made though postinfectious OP could not be completely ruled out. Upon starting prednisolone at a dose of 30 mg/day, dramatic clinical improvement was observed and complete radiographic clearing of the lung infiltrates was confirmed within 3 weeks (). The prednisolone dose was gradually tapered to 1 mg/day (). The patient has remained well for a year.


A 45-year-old man was admitted as an emergency to the haematology ward because of fever, nausea, vomiting, diarrhoea and severe prostration, which have been lasting for several days. The patient suffered from a mantle cell lymphoma and was in the 45th day after allogeneic transplantation of haematopoietic stem cells (alloHSCT) from a related donor, after myeloablative conditioning. On physical examination tachycardia, hypotension, high levels of inflammatory markers and marked dehydration were detected. Laboratory tests showed acute renal insufficiency of complex aetiology: prerenal (due to dehydration) and intrinsic—with the symptoms of thrombotic thrombocytopenic purpura (TTP) and kidney damage, which resulted from cyclosporine nephrotoxicity. In histopathological examination of biopsy specimens obtained during sigmoidoscopy, acute graft-versus-host disease (aGVHD) had been diagnosed. During high-resolution computed tomography (HR-CT) scan of the chest, a typical radiological picture of pulmonary mycosis was detected. Galactomannan (GM) has been detected in the patient’s serum, while the test for the presence of GM in the bronchoalveolar lavage (BAL) fluid was not done. Therapy with lipid complex amphotericin B was administered (5 mg/kg/day), and control examinations showed a slow regression of inflammatory lesions in the lungs. Due to a marked fur on oral mucous membranes, several mycological cultures were done, which yielded the growth of Pichia kluyveri and Candida albicans. Mycological cultures of BAL and sputum were negative. Treatment with lipid complex amphotericin B was continued.
During subsequent weeks of hospitalisation, the patient was treated for hypogammaglobulinaemia, reactivation of cytomegalovirus (CMV), Epstein–Barr virus (EBV) and adenovirus in peripheral blood, as well as for Giardia lamblia infection of the gastrointestinal tract. He was also diagnosed with papillary carcinoma of the thyroid gland, for which strumectomy was performed. Two episodes of ileus were recorded during hospital stay.
During the patient’s hospitalisation, several evaluations of post-transplant chimerism were done. Results of all tests (done on peripheral blood and on bone marrow samples taken >100 days after alloPBSCT) were normal. Myelogram of the trepanobiopsy specimen revealed dysmegakaryopoiesis; however, phenotyping of the bone marrow cells did not show lymphoma relapse. Cytogenetic tests also did not show aberrations. HR-CT scans of the chest, abdominal cavity and neck were performed in search for possible relapse of the basic disease. A single enlarged (dimension of 19 mm), probably reactive, lymph node was detected in the abdominal cavity.
Due to episodes of septic shock, the patient was treated with antibiotics (imipenem, colistin, linezolid, tigecycline), an antiviral agent (acyclovir) and a lipid complex of amphotericin B, as well as a granulocyte colony stimulating factor (G-CSF). At that stage, laboratory tests showed increasing levels of inflammatory markers as well as increasing lactic acidosis and its respiratory compensation. The patient required oxygen therapy.
Pulmonary embolism was excluded during bedside echocardiography examination. The lipid complex of amphotericin B was temporarily discontinued (after 93 days of therapy) in fear for development of acidosis as an unwanted effect of this antifungal agent (renal canalicular and tubular acidosis). Furthermore, clinical symptoms of acute pancreatitis and a sudden increase in pancreatic enzyme levels had been recorded. During subsequent days, the patient suffered from increasing shortness of breath; however, in a chest X-ray examination neither obvious parenchymal lung lesions nor haemostasis in the pulmonary circulation had been detected. After nephrological consultation of the patient, a dialysis catheter had been inserted into the femoral vein, and therefore, amphotericin B therapy was not continued. Due to an increasing metabolic acidosis (pH 7.3) and lactate levels, symptoms of acute pancreatitis and persistent paralytic ileus, a CT scan of the abdominal cavity was performed to exclude mesenteric artery thrombosis and intestinal ischaemia as a possible cause of these abnormalities. However, no mesenteric embolism or clear signs of acute pancreatitis were detected. There were also no indications for surgical intervention. The patient’s condition continued to deteriorate, and he was transferred to the intensive care unit (ICU). On admission to the ICU, his condition was severe, with borderline respiratory function. His status of consciousness was assessed as score 14 of the Glasgow Coma Scale (GCS). Haemodialysis was performed; however, despite intensive therapy, hypoglycaemia and acidosis were deepening and the patient died.
Blood culture of a sample obtained just before his death had shown the presence of non-fermenting Gram-negative rod Brevundimonas nasdae. No fungi were cultured. An autopsy examination revealed marked hyperaemia and tissue oedema in both lungs, as well as irregular regions of increased consistency, particularly in the lower lobes of both lungs. Microscopically, the lesions had been described as organising abscesses with necrosis in the central zone and the presence of hyphae typical for Aspergillus spp. (Fig. ). In the interventricular septum of the heart, hypertrophy of single cardiomyocytes had been noted, as well as an abscess with Aspergillus spp. hyphae present within the central necrosis zone (Figs. , , ).


A 43-year-old male without any past medical history presented with progressive dyspnea, fever, and nonproductive cough for 1 month. He denied orthopnea, paroxysmal nocturnal dyspnea, hemoptysis, or weight loss. There was no history of recent travel, sick contacts, or prolonged immobilization. He had no history of cigarette smoking, second-hand smoking, or alcohol or illicit drug use.
He was afebrile and hemodynamically stable on presentation. He had mild periorbital edema with erythema on supraorbital areas but no heliotrope rash. He also had erythematous patchy scaly lesions on bilateral elbows and metacarpophalangeal joints with periungual erythema without distinct Gottron papules. Breath sounds were decreased on the right base with crackles and scattered rhonchi. There was no gallop rhythm or jugular venous distention. Mildly tender metacarpophalangeal and proximal interphalangeal joints without synovitis were noted bilaterally. Muscle strength was normal and equal bilaterally in all four extremities. Initial blood work showed aspartate transaminase 94 U/L, alanine transaminase 70 U/L, and no leucocytosis.
He later developed a fever and chest X-ray () was done which revealed bilateral lower and right middle lobe infiltrates. Respiratory panel, blood culture, sputum culture, fungal culture, Legionella antigen, Histoplasma antigen, QuantiFERON Gold, hepatitis panel, and HIV test were all negative. A computed tomography scan of the chest () showed patchy subpleural bilateral opacities more prominent in the bases with subtle reticulonodular opacities in both lungs along with traction bronchiectasis. No significant pleural effusion, pneumothorax, or lymphadenopathy was seen. He was recently treated for pneumonia at another hospital and was thus empirically started on antibiotics for treatment of suspected health care associated pneumonia. Bronchoscopy with transbronchial biopsy revealed chronic inflammation and fibrosis. Autoimmune workup including anti-cyclic citrullinated peptide, anti-nuclear antibody, double-stranded DNA antibody, anti-proteinase 3, anti-myeloperoxidase, Scl-70, anti-smooth muscle, anti-Jo-1 antibody, and cryoglobulin was unremarkable. Aldolase was elevated at 13.7 (normal < 8.1 U/L), C-reactive protein was 10.4 (normal 0–8 mg/L), creatine phosphokinase was 351 (normal 30–223 IU/L), and rheumatoid factor was 71 (normal < 14 IU/mL). Skin biopsy of lesions over metacarpophalangeal joints revealed mild epidermal acanthosis and papillomatosis with perivascular inflammation suggestive of dermatomyositis ().
Pulse dose of intravenous methylprednisolone 1000 mg was given for 3 days. Video assisted thoracoscopic lung biopsy could not be performed because of his worsening respiratory status. The clinical picture with the presence of ILD, fever, and arthritis in the setting of ADM suggested a diagnosis of AS syndrome and immunosuppression with cyclophosphamide was initiated. Although he was initially placed on noninvasive ventilation, his condition eventually deteriorated requiring intubation and mechanical ventilation for hypoxemic respiratory failure. Repeat chest X-ray showed findings consistent with acute respiratory distress syndrome (ARDS) and he was placed on RotoProne bed. Repeat creatine kinase level was minimally elevated at 292 IU/L and urinalysis revealed red blood cell casts. He subsequently developed acute kidney injury with metabolic acidosis requiring hemodialysis. He eventually went into shock requiring vasopressor support and progressed to multiorgan failure. His condition continued to deteriorate leading to refractory shock with no improvement in the overall status; the family decided not to resuscitate in the event of a cardiac arrest and he unfortunately died.


A 24-year-old Japanese woman with no notable past medical history presented with complaints of fever and nausea while she was traveling in Australia; within the previous 2 months, she had also traveled to India and Africa. She visited a local hospital in Australia, and the laboratory tests showed significantly elevated levels of transaminase, so she was checked for viral hepatitis. After excluding hepatitis A, B, and C, as well as other causes of hepatitis, it was revealed that the patient was positive for HEV-IgM. Since she was a visitor to Australia, she was sent back to Japan and was transferred to our hospital. During her stay in India and Africa, she ate most of her meals at local restaurants, and she sometimes drank tap water.
Her initial vital signs revealed a blood pressure of 103/64 mmHg, heart rate of 84 beats/min, and body temperature of 36.4 °C. Physical examination revealed jaundice with no tenderness over the right upper quadrant. The chest, extremities, and other systemic examinations were unremarkable. Laboratory investigations revealed an aspartate aminotransferase (AST) level of 1382 U/L, alanine aminotransferase (ALT) level of 2842 U/L, total bilirubin level of 4.8 mg/dL, and direct bilirubin level of 3.9 mg/dL. The test results were all negative for anti-nuclear antibody, anti-mitochondrial antibody, cytomegalovirus IgG and IgM, Epstein-Barr virus, and hepatitis A, B, and C antibodies; but the test for HEV-IgM was positive (Table ). Her initial ultrasonography of the abdomen revealed splenomegaly (108 × 39 mm) and a small amount of ascites, but no signs of hepatomegaly or an enlarged gallbladder. According to the data above, HEV infection was diagnosed.
She was treated with intravenous fluids with normal saline. On day 4, the patient complained of right upper quadrant pain. Ultrasonography of the abdomen showed 3 mm of a gallbladder wall; moreover, a physical examination detected tenderness over the right upper quadrant and positive Murphy’s sign. Since the levels of transaminase and total bilirubin were gradually declining at that time, the enlarged gallbladder was left untreated, but closely followed up. However, the level of AST was elevated again at 980 U/L on day 7. In addition to the ultrasonographic findings, perivesical fluid accumulation and an edematous gallbladder wall (4 mm) had appeared (Fig. ). There were no stones in the gallbladder. In addition, there were no other causes of acalculous cholecystitis. Pneumonia, acute pancreatitis, hepatic or subphrenic abscess, and right pyelonephritis were considered for the possible causes but were excluded from the diagnosis due to the fact that no evidence was shown on ultrasonographic findings, urinalysis, and chest X-ray. No antibiotics were administered for the cholecystitis. From day 9, the levels of transaminase and bilirubin began to decline even without the use of antibiotics. Blood culture was negative, and the procalcitonin level was within the normal range. Based on these findings, we assessed the cholecystitis was not caused by bacterial infection and decided not to administer any antibiotics. The edematous wall showed significant improvement on day 11 and had returned to normal by day 14. Since the patient did not complain of abdominal pain and the findings were gradually being recovered, it was not necessary to intervene surgically. The patient was discharged on day 16 because all of the symptoms had disappeared.
The serum of the patient was tested to identify the genotype of the HEV at the Osaka Prefectural Institute of Public Health, and it was identified to be HEV genotype 1, OSN2015-5 (Fig. ). It was confirmed by using SuperScript III-one step RT-PCR system with Platinum Taq (Invitrogen).
From this case, two important clinical discoveries were made: (1) HEV can cause acalculous cholecystitis as an extrahepatic manifestation, and (2) it can recover without any antibiotics.
First, HEV can cause acalculous cholecystitis as an extrahepatic symptom. It has been reported that HEV can cause pancreatitis, arthropathy, aplastic anemia, and Guillain-Barre syndrome as extrahepatic symptoms [, ]; however, acalculous cholecystitis has not been previously reported as a symptom of HEV. We performed a search of the MEDLINE database for the terms ‘cholecystitis’ and ‘viral hepatitis E’. Three hits were found, but the contexts were unrelated to cholecystitis due to HEV. Hepatitis A virus infection is known to cause acalculous cholecystitis as a rare complication []. Although further investigations of a larger number of cases are needed to clarify the matter, it is presumed that hepatitis A virus invades the endothelial cells of the gallbladder and bile duct and induces cell-mediated immunity [, ]. However, this is the first case report of acalculous cholecystitis as an extrahepatic manifestation of HEV.
Second, the acalculous cholecystitis due to HEV infection could recover without any antibiotics. On the seventh day after admission, the level of serum AST was increased, and ultrasonography of the abdomen detected a thickened gallbladder wall without calculi and perivesical fluid accumulation; these met the criteria for acalculous cholecystitis []. In general, the treatment options for acalculous cholecystitis are antibiotics, drainage, and/or operation. However, none of them were necessary in this case, and the patient recovered completely. According to the clinical course, the cholecystitis was secondary to HEV infection and recovered as the HEV infection resolved.
Humans can be infected by four different genotypes of HEV: genotypes 1, 2, 3, and 4. HEV genotypes 1 and 2 are common and restricted to human []. Individuals may become infected with HEV genotypes 1 and 2 from drinking contaminated water, so it was suspected that this patient became infected with HEV from drinking tap water in India. Genotype 1 is prevalent in the Indian subcontinent, Asia, the Middle East, and Africa []. The latent period of HEV infection is approximately 6 to 8 weeks []. Based on the travel history of the patient, it is possible that she became infected with HEV while she was in India. HEV infection does not affect only developing countries. HEV genotypes 3 and 4 are found in some industrialized countries. In addition, zoonotic transmission to humans is possible with HEV genotypes 3 and 4 []. Occasional foodborne outbreaks from the consumption of undercooked meat contaminated with HEV have occurred in Europe, North America, Japan, and New Zealand []. Among the different genotypes, genotype 1 HEV infection can cause the most serious disease []. As such, it is important to determine the genotype of the HEV infecting a patient to know the prognosis and to identify the source of the infection.


A 29-year-old female with no significant past medical history presented with palpitations, nausea, diaphoresis and lightheadedness. Symptoms began 15 minutes prior to arrival. She reported several similar episodes previously that self-resolved within seconds, but had no previous medical evaluations for these symptoms. Initial vital signs were significant for blood pressure of 93/61, irregular heart rate between 180 and 200, respiratory rate of 18, and oxygen saturation of 99% on room air. Physical examination was otherwise unremarkable. The electrocardiogram (ECG) is shown in . This was interpreted as atrial fibrillation with rapid ventricular rate, and the patient was treated with rate control with no effect. The patient later spontaneously converted to normal sinus rhythm and repeat ECG was notable for delta waves concerning for Wolff-Parkinson-White Syndrome (WPW) as seen in . She was admitted to cardiology for cardiac ablation.


We present a case of an 18 years old male, with no personal history of interest; he referred 6 weeks of headache and blurred vision. At physical examination he presented right VI nerve palsy with diplopia, and bilateral papiledema. A CT scan reported a left parietooccipital enhancing lesion measuring 6 × 4 cm. The MRI showed a well-defined occipital infratentorial diploe osteolytic lesion, affecting the inner table, hyperintense on T1WI suggesting hemorrhagic areas producing mass effect over the left cerebellum hemisphere and obliteration of the cisterna magna ( Fig. ).
After embolization of the occipital artery, surgery was performed, with total resection of the lesion, and the dura also, with subsequent repair, because it was infiltrated. During postoperative care, the patient presented CSF fistula complicated with bacterial meningitis which after antibiotic treatment, and the dura was surgically repaired again. Patient was discharged without any neurological alteration. At 4 years of clinical follow up and annual MRI studies, he remains asymptomatic, carries a normal life and shows no evidence of radiological recurrence (Fig. ).


An eight-year-old girl was referred to our Pediatric Neurology service with a 6-year history of right-sided facial palsy. Her speech became acutely slurred but subsequently improved. There was no history of preceding trauma, recent infection, immunizations, or a rash. Parents declined to receive oral steroids. Brain magnetic resonance imaging (MRI) was initially obtained a year after the onset of her symptoms and was reported as normal, but it was unavailable for us to review.
At first evaluation, she was making good academic progress and she had been healthy over the last few years with normal development and physical growth. However, she had long-standing dental malocclusion for which she required extraction of five teeth.
The child was born at term by elective Caesarean section to healthy non-consanguineous parents. The mother had amniocentesis during this pregnancy as both she and father were carriers of beta thalassemia trait but without perinatal complications. She had a 16-year-old brother, who was fit and well, while family history was negative.
She had no features of facial dysmorphism such as wide nasal bridge, prominent forehead, hypertelorism, and prominent jaw. There was obvious tooth crowding with malocclusion. The rest of the neurological examination was normal. Laboratory evaluation with autoimmune and infectious screens was negative, while beta thalassemia trait was confirmed. Vitamin D deficiency was noted and replacement therapy was started.
A repeat brain MRI revealed significant bone abnormalities, with thickening of skull vault and skeletal skull base, but normal intracranial appearances. In view of these findings, a brain computed tomography (CT) scan was obtained (Fig. ) and the findings were consistent with a grossly abnormal skull base and a narrowed right facial canal, which led to the right facial nerve palsy. The visualized bones showed generalized expansion, with cancellous bone demonstrating ground glass appearance. In addition, there was abnormal pneumatization of the paranasal and mastoid air cells, with just a few small pneumatized foci in the mastoids, and there was no pneumatization of the sphenoid or maxillary antra. The clivus was expanded and it was abnormal.
A skeletal survey was also performed, which revealed abnormal thickening of the skull base and calvarium, dental malocclusion and mild deformities of the long bones with abnormal tubulation (Fig. ). There was widening of the lesser diaphyseal region and bowing of the humeri and radial bones (Fig. ). Widening of the metacarpals and phalanges (Fig. ) and also widening of the metatarsals and phalanges of both feet, of the clavicles, and of the ribs were also noted. The vertebral bodies were normal in appearance. Typical Erlenmeyer flask deformities were noted to both femurs with grossly widened metaphyses of long bones and marked cortical thinning and osteopenia (Fig. ). Based on the above radiological findings, the diagnosis of Pyle’s disease with facial nerve compression leading to chronic facial nerve palsy was set.