A 49-year-old man with a history of intravenous drug abuse, mainly heroin, presented to the emergency department in Henry Ford Hospital where he complained of chills and diarrhea. The diarrhea was watery and continuous of 1-day duration accompanied by chills. He denied shortness of breath or chest pain.
Our patient was hospitalized in another facility 14 days before presenting to the emergency department of our hospital, and was found to have Candida parapsilosis and Pseudomonas aeruginosa endocarditis. A 2D echocardiogram was done there and showed vegetation of the prosthetic mitral valve, with normal aortic prosthesis. He was discharged with a peripherally inserted catheter (PIC) line and on intravenous antibiotics namely, tobramycin, cefepime and fluconazole. No valve replacement was performed at that time due to ongoing injection drug use. He was only out for 1 day before presenting to our emergency department.
His past medical history was significant for aortic and mitral valve replacement 1 year before this hospitalization for endocarditis. He also had stage 3 chronic kidney disease.
At initial presentation, he was found to be febrile at 100.3°F and hypotensive at a blood pressure of 85/50. His physical examination revealed a 3/6 systolic murmur in the aortic area with radiation to the precordium, and a 2/6 diastolic murmur over the mitral area without radiation.
His initial laboratory investigations showed white blood cell count of 19.2 k/μL with 93% neutrophils, hemoglobin of 9.6 g/dL, blood urea nitrogen (BUN) 26 mg/dL, creatinine 2.2 mg/dL, serum bicarbonate 16 mmol/L, chloride 112 mmol/L, sodium 136 mmol/L, magnesium 1.2 mmol/L. Prothrombin time was 15 seconds, and international normalized ratio (INR) was 1.17. Urine toxicology screen was positive for benzodiazepines. Troponin level was 2.2 ng/mL (normal<0.4). Initial blood cultures were drawn in the emergency department and later grew P. aeruginosa susceptible to amikacin, aztreonam, cefepime, ciprofloxacin, imipenem, piperacillin/tazobactam and tobramycin. Serology was positive for Hepatitis C infection and negative for HIV infection.
On presentation, he was admitted to the intensive care unit with the diagnosis of septic shock. He was started on intravenous vancomycin, tobramycin, micafungin and cefepime.
Three sets of blood cultures grew C. parapsilosis susceptible to fluconazole, itraconazole and 5 flucytosine, and P. aeruginosa susceptible to amikacin, aztreonam, cefepime, ciprofloxacin, imipenem, piperacillin/tazobactam and tobramycin.
A 2D echocardiogram showed a bioprosthetic aortic valve with a medium, 10 mm, pedunculated, highly mobile vegetation of the aortic valve attached to the posterior aortic annulus. There was no significant aortic valvular regurgitation. There was mild mitral valvular regurgitation.
At day 2 of hospitalization, a transesophageal echocardiogram was done. It showed no aortic abscess but small, 5 mm, mobile vegetation of the aortic valve attached to the non-coronary cusp without significant regurgitation. It also showed large, 10 mm, mobile mitral valve vegetation attached to the anterior leaflet without significant regurgitation.
The hospital course was complicated by acute renal failure and acute heart failure for which the patient was aggressively resuscitated. He was electively intubated and medically stabilized to undergo valve replacement 5 days later. Ethical and logistic considerations were the focus of an extensive discussion among the different treating medical and surgical teams given the active injecting drug use while being treated for a relapse of infective endocarditis. The decision was finally made to proceed with the valve replacement surgery. The patient was kept in hospital for the duration of intravenous antibiotics to ensure adherence to therapy and to prevent use of the intravenous access for illicit drug use.
At day 7 of hospitalization, he underwent aortic and mitral valve replacement. Cultures from the valves also grew P. aeruginosa and C. parapsilosis. All blood cultures drawn after day 1 were negative.
Tobramycin and cefepime were given for 6 weeks postoperatively. Tobramycin trough levels were measured frequently to ensure therapeutic levels. Micafungin was given for 5 days postoperatively, and replaced by anidulafungin that was given for 26 days. Fluconazole was given for 30 days postoperatively while in hospital and prescribed for 3 months after discharge from the hospital.
Throughout hospitalization, he remained afebrile and euvolemic without symptoms of heart failure. Two weeks after discharge from the hospital, he returned to the infectious disease clinic, being in good health, without history of fever, excess sweating, chest pain or shortness of breath. Follow-up blood cultures were drawn and were negative.


The patient was a 74-year-old woman with a right nasal tumor that had caused progressive right nasal obstruction over two years. Nasal endoscopy revealed a pinkish tumor arising from the ostium of the right sphenoid sinus and extending to the right nasal cavity and epipharynx (Figures and ).
Plane-computed tomography (CT) showed a soft tissue density in the nasal cavity, sphenoid sinus, and nasopharynx without bone destruction on the right side. Magnetic resonance imaging (MRI) showed a mass with a hypointense signal on T1-weighted images () and heterogeneous hypo-and hyperintense signals on T2-weighted images (). The mass showed prominent and inhomogeneous enhancement with gadolinium and was also revealed to be originated from the right sphenoid sinus ().
The ESS was performed under general anesthesia. During the sphenoethomoidectomy, the root of the tumor was clearly identified on the lateral edge of the ostium of the right sphenoid sinus. The tumor was successfully resected “en bloc” and was removed through the oral cavity (). The postoperative course has been uneventful without signs of recurrence at eight months after surgery.
Histopathological examination of the tumor revealed the spindle cells showing a patternless arrangement within the collagenous matrix and numerous thick-walled vessels with dilated vascular spaces (). Immunohistochemically, the tumor cells were stained positively for CD34 () and Bcl-2 (), but were not stained for S-100 proteinor c-kit; thus, a diagnosis of SFT was established.


A 50-year-old man was admitted to the hospital because of general malaise and haematuria. He has a history of Graves disease diagnosed in 2004 and treated with Benzylthiouracile (Basdène) 300 mg/d for 8 months. On admission, his blood pressure was 120/70 mmHg and his pulse was regular at 108/min with no fever. On physical examination, the patient looked pale and his conjunctivas were anaemic. His thyroid gland was enlarged and there were no exophthalmia, skin rash or edema in lower extremities. Cardiovascular examination was normal.
Urine analysis showed haematuria (4+) and proteinuria (2+). Laboratory data at admission showed: hemoglobin 9.4 g/dL, serum urea 19.7 mmol/L (normal range: 2.5–7.5 mmol/L ), serum creatinine 413 μmol/L (normal range: 70–130 μmol/L); it was 54 μmol/L 8 months before, Proteinuria 1.1 g/d, haematuria 800 0000 red blood cells/mL, erythrocyte sedimentation rate 102 at 1 hour. Serum concentrations of CH50, C3 and C4 were in normal range. Thyroid function was normal with negative antithyroglobulin (anti-TG), antiperoxydase (anti-TPO) antibodies, and positive antithyrotropin receptor antibodies (TRAb) (range 40 UI/mL). Antinuclear and antiglomerular basement membrane antibodies were negative. An indirect immunofluorescence test for ANCA was positive, showing a perinuclear pattern with specificity antimyeloperoxydase (MPO). A renal biopsy was performed and revealed pauci-immune extracapillary glomerular nephropathy and necrotic vasculitis lesions. Based on these findings the diagnosis of rapidly progressive glomerulonephritis associated with ANCA induced by BTU therapy was strongly suggested. The drug was therefore discontinued and patient was treated with pulse of methyl prednisolone (500 mg/d for 3 days) followed by oral prednisolone (60 mg/d) and monthly intravenous pulses of cyclophosphamide during 3 months. Renal failure, proteinuria and haematuria significantly improved within 2 months. Serum creatinine level decreased to 84 μmol/L and urine analysis revealed no proteinuria or haematuria. However, P-ANCA remained positive until 10 months after drug withdrawal. Thyroid function was kept within normal range using iodine solution.


A 73-year-old Caucasian woman was admitted for elective shoulder replacement for an arthritic shoulder. She was being treated for hypertension with beta-blockers and thiazide diuretics and her blood pressure was well controlled. She had a history of diverticulitis and varicose vein surgery with an uneventful outcome. Her body mass index (BMI) was 34 during pre-operative anesthetic evaluation. She had no family history of DVT/PE. Blood investigations including electrolytes, liver function tests and coagulation screening were normal. Results of her electrocardiogram (ECG) and chest X-ray were unremarkable. The comorbidities were well optimized and she was admitted a day before her operation.
The patient was operated under general anesthesia supplemented with an interscalene block for postoperative analgesia. An intermittent calf compression device was used for mechanical thromboprophylaxis intraoperatively. The operation was performed through an anterior deltopectoral approach. The patient had no intraoperative complications. The patient recovered satisfactorily from general anesthesia and was monitored in a high dependency care unit for postoperative optimization. The operated shoulder was supported in an arm sling support for comfort. The patient was prescribed postoperative opioid analgesics and antibiotic prophylaxis with three doses of cefuroxime. No chemical or mechanical thromboprophylaxis were used postoperatively.
The patient was already feeling well on the next postoperative day and her blood parameters were satisfactory. Her pain was well controlled and her arm continued to be immobilized by the sling. There was no excessive oozing from the surgical wound and there were no distal neurovascular deficits. The patient's calves were soft and nontender and she was ambulating well postoperatively. A systemic examination of the patient was unremarkable. However, while being monitored she suddenly became breathless, hypoxic and hypotensive and experienced intense sweating. She did not complain of chest pain and an ECG was negative for cardiac ischemic changes. Her PaO2 was 84% on room air. She was resuscitated with oxygen by mask and initiated on low molecular weight heparin in a therapeutic dose. Despite all resuscitative measures the patient could not be revived. A post-mortem examination was requested, which confirmed pulmonary embolism and left calf deep vein thrombosis.


A 53-year-old woman from Ghana was referred for severe insulin resistance, treatment-resistant hypertension and dyslipidemia. She was first diagnosed with type 2 diabetes at age 40 and was treated with oral hypoglycemic agents until age 51 when insulin was added. She presented to the emergency room with exertional chest heaviness, dyspnea, and epigastric discomfort, however no definite cardiac event was diagnosed. She had a history of burning pain and numbness in her feet, diffuse muscle pains consistent with a chronic pain syndrome, and bilateral frozen shoulders. The patient has a strong family history for early coronary heart disease: her father had a myocardial infarction (MI) in his early 60s, her mother had three MIs, one sister had coronary artery bypass surgery in her 40s and another sister had an MI in her 30s. The patient's only family history of diabetes was in her maternal grandfather's brother.
Current medications included 120 units of insulin daily, amlodipine, valsartan, hydrochlorothiazide, rosuvastatin, ezetimibe, metformin, enteric coated acetylsalicylic acid (ASA), rabeprazole, amitriptyline, meloxicam, K-lyte, and magnesium.
On physical examination, she had a typical Dunnigan-type lipodystrophic habitus, including lipoatrophy of the lower extremities but sparing of fat deposits in the abdominal region, face and neck. Although the age of onset of her lipodystrophy is not known, she has had the same physiognomy for most of her adult life. Her radial pulse was 70 beats/minute and blood pressure was 150/85 mmHg. Her weight was 61.8 kg, height 162 cm, and body mass index 23.5 kg/m2. On cardiovascular examination, soft bruits were heard over both carotids, a 2/6 systolic ejection murmur was heard over the pericardial region and transient pitting edema of the lower extremities was detected bilaterally. On neurological examination, she had absent ankle jerk reflexes and decreased sensation in the area of the upper shin. She had marked acanthosis nigricans on the back of her neck. No other pertinent findings were observed on physical examination; specifically no ocular, dermatological, or abdominal findings.
Her laboratory results included (reference range) fasting glucose of 8.8 mmol/L (4.0-6.0 mmol/L), glycated hemoglobin 16.9% (4.1-6.5%), total cholesterol 7.2 mmol/L (4.3-6.5 mmol/L), triglycerides 3.35 mmol/L (0.67-3.15 mmol/L), low-density lipoprotein cholesterol (LDL) 4.8 mmol/L (2.3-4.3 mmol/L), HDL 0.9 mmol/L (1.0-2.4 mmol/L). Cardiac investigations, including electrocardiogram, echocardiogram, exercise and pharmacological stress echocardiogram, gated single photon emission computed tomography (SPECT) perfusion study, cardiac catheterization and coronary angiography, were all negative specifically showing no significant ischemia or coronary artery disease.
The patient was found to carry no mutation in any of the known lipodystrophy-causing genes (LMNA, PPARG, BSCL, AGPAT2, LMNB2, CAV1) by exon-by-exon sequence analysis. Genomic DNA was extracted from peripheral blood leukocytes and 250 ng was used in each genotyping assay. The high-density oligonucleotide microarrays (chips) used for analysis were the Affymetrix GeneChip Human Mapping 500 K array set (Santa Clara, CA, USA). The chips were processed using established protocols in the London Regional Genomics Centre. Copy number determination was performed using 130 normal controls and 40 lipodystrophy cases (Figure ) with Partek Genomics Suite version 6.3 (St Louis, MO, USA). No log transformations or data normalizations were used, but probes were corrected for fragment length, sequence, and guanine-cytosine (GC) content. Two CNVs were identified within the genome of the patient: three copies of the entire X chromosome, and a duplication of 89 single nucleotide polymorphism (SNP) probes over 415 kb of chromosome 5q33.2, from 154,979 kb to 155,394 kb (physical position, NCBI reference build 36.2). No genes were found in or within 300 kb of the 5q33.2 duplication. Neither the duplication of 5q33.2, nor triple X syndrome, was identified in any of the other lipodystrophy patients or normal controls.


An 84-year-old Caucasian man presented with a 4-week history of severe abdominal pain radiating to his back and with haematuria. He was receiving long-term warfarin treatment for atrial flutter and his international normalised ratio on admission was 17.6. He complained of nausea and weight loss, but reported no recent change in bowel habit.
On examination, the patient was cachectic and pyrexial. He had epigastric and right upper quadrant tenderness. Of note was swelling of his right carpometacarpal, bilateral thumb and index finger metacarpal joints.
Laboratory investigations revealed a white-cell count of 12.6 × 109/L, C-reactive protein of 198 mg/L, gamma-glutamyl transpeptidase of 273, raised serum lipase of 17362 U/L and serum amylase of 619 U/L. Chest and abdominal X-rays were normal. The abdominal computed tomography (CT) scan showed a 9 × 8 cm mixed attenuation mass initially thought to represent pancreatic head haematoma (Figure ). The patient's warfarin treatment was discontinued and he was managed conservatively with intravenous fluids, analgesia and bed rest. Levels of the tumour markers carcinoembryonic antigen (CEA) and CA19-9 were normal. A follow-up scan 8 weeks later revealed that the mass had not resolved and was now more likely to represent a tumour of the head of the pancreas or a pancreatic pseudocyst. The patient declined an endoscopic ultrasound.
He returned four weeks later, complaining of fever, left knee pain and a pus-like discharge from his hands and feet. Blood and knee-joint fluid cultures were negative. An x-ray of his knees showed features of osteoarthritis. A whole-body bone scan excluded the possibility of bone metastases. A few days later, the patient developed multiple tender red, brownish nodules on his lower limbs and discharging lesions on his hands (Figures and ). He also had a discharging wound on his right buttock. He was referred to the Department of Dermatology where the nodules were thought to represent paraneoplastic lesions or a skin manifestation of atypical Mycobacterium infection. The first skin biopsy showed non-specific inflammation of erythema nodosum.
A second skin biopsy revealed extensive areas of necrotic subcutaneous fat surrounded by florid acute and chronic inflammation consistent with pancreatic panniculitis (Figure ). The patient declined investigations and treatment of the pancreatic mass. Management was primarily supportive and his condition deteriorated rapidly. He was eventually referred to the palliative care team for pain and symptom control. The patient died 5 months after his initial presentation to our hospital.


A 65 year old woman had a fall in her bathroom, and presented to the hospital with Fracture shaft of femur. She was admitted to hospital for repair of the left femur fracture. An ORIF with an intramedullary nail, was planned to repair the fracture. Intraoperatively basic monitoring with continuous ECG, non-invasive blood pressure, and pulse oximetry was carried out. The procedure was done with epidural anaesthesia, given in the lumbar region -L3-L4 space, using isobaric bupivacaine 0.5% (16ml). The patient was sedated using intermittent Midazolam 2 mg IV, and the patient received oxygen through a venti-mask. After epidural block her blood pressure was 110/64 mm Hg, heart rate was 83 / min, and the SpO2 was 99%. Approximately 15 min after the insertion of the intramedullary nail, the patient suddenly became restless and this excitement progressed to generalized seizures. The oxygen saturation decreased from 99 to 80%. The patient became tachypnoeic, and the ECG showed ventricular bigeminy. Within seconds, she developed profound hypotension and shock The oxygen saturation could not be recorded. The patient was immediately intubated with a 7.5 mm endotracheal tube and positive pressure ventilation commenced. The initial end tidal CO2 was noted to be between 0 and 2.02. An arterial line was inserted, and an arterial blood gas analysis obtained, which showed a pH 7.019 of pCO2 was 20.17 mmHg, and paO2 was 107.57 mm of Hg, with a base deficit of 3.6 meq litre while breathing 100% oxygen. We urged the surgeon to complete suturing the skin as soon as possible. While the surgeon was suturing the skin, we inserted a pulmonary artery (PA) catheter. The systolic pulmonary arterial pressure was 48 mm Hg and the diastolic pressure was 32 mm Hg. A Transthoracic echocardiogram revealed massive dilatation of the right ventricle, the diameter of the inferior vena cava was 26 mm, and diametric change accompanying respiration was not observed. The left ventricular function was normal. We diagnosed the cause for the circulatory collapse as due to acute right heart failure (acute cor pulmonale) The patient then developed atrial fibrillation and subsequently pulseless ventricular tachycardia and required defibrillation, and cardiopulmonary resuscitation. CPR was continued in the operating theatre. Blood gas analysis during CPR showed a pH 7.075 of pO2 - 340.64 mm of Hg, and pCO2 - 41.84 mm of Hg with a base deficit of 16.9 mEq litre while breathing 100% oxygen. The end-tidal carbon dioxide was between 0 and 12 mm of Hg, and oxygen saturation could not be monitored.
After successful CPR using epinephrine, atropine, vasopressin, and debfibrillation, continuous infusion of Norepinephrine 2 µg / kg / min and Dobutamine 20 µg / kg / min were started and the rates of infusions were adjusted to maintain the arterial systolic blood pressure >80 mm Hg. Systolic PA pressure was 51 mm Hg and pulmonary capillary wedge pressure (PCWP) was 33 mm Hg. A repeat Transthoracic echocardiogram (TTE) showed that the right ventricle was severely dilated but left ventricular function was maintained. After about an hour of continuous resuscitation, despite optimal maximal doses of pharmacological support, we could not maintain the systolic blood pressure >80 mm Hg; at this stage, we decided to place a portable PCPS.
The PCPS is composed of heparin-coated circuits (Carmeda™ Closed Chest Support System), a biopump, a heat exchange unit, and a Maxima™ membrane oxygenator (Medtronic Cardiopulmonary CO, Anaheim, CA, USA). We inserted a 19 Fr drainage cannula into a femoral vein and 17 Fr re-infusion cannula into the femoral artery percutaneously. The initial blood flow was 2.5 litre min and the rotation rate of the biopump was 2500 rpm. The oxygen fraction was 1.0 at 4.0 litre min-1. About one hour after PCPS was started, the patient started showing signs of recovery, Her ECG returned to normal sinus rhythm and her circulatory failure began to improve, her systolic blood pressure was 92 mm Hg and her heart rate was between 90 - 100 beats / min. The PA pressure gradually decreased from 51 to 34 mm Hg, and her general condition became stable. The patient's blood gas analysis at this time showed a pH pH 7.34, pO2 of pO2 -477.34 mm of Hg, and pCO2 - 27.74 mm of Hg with 100% oxygen. The mixed venous oxygen saturation increased from 48 to 75%. The blood flow was maintained at 2.5 litre min and her core temperature had been lowered to less than 34°C for the protection of cerebral function. After the initiation of PCPS and having stabilized her cardiovascular condition, we transferred the patient from the operating theatre to a radioscintigraphic examination room as by this time we had strong suspicion of fat embolism. The radioscintigram showed diffuse multiple defects of blood flow in both lungs. After scintigraphic examination, we brought the patient to the intensive care unit (ICU).
We diagnosed the patient as having pulmonary fat embolism from the presence of lipid granules, sampled from the tip of the PA catheter and stained with oil red O.[] On day one in ICU, the patient's condition was stable on PCPS. On day two, since the patient was cardiovascularly stable, we lowered the PCPS flow to 1.0 litre min and then to 0.5 litre min. Throughout this time, the systolic blood pressure was maintained above 120 mm Hg and her heart rate was between 80 - 90 beats/min. The cardiac output (CO) was more than 3.5 litre min. The PA pressure had been between 25 and 30 mm Hg. We therefore decided to stop and remove the PCPS from the patient. Immediately after disconnecting the drainage cannula from the femoral vein, the patient crashed and had a very low systolic blood pressure with the ECG showing wide QRS complexes. PCPS was resumed immediately. An echocardiogram showed dilatation of the right ventricle, septal akinesis, and hypo kinesis of the left ventricle and the LV ejection fraction was less than 10%. We therefore continued to support the patient on PCPS. We had to give more time for the recovery of her cardiac function. On day three in ICU, the patient;s CO was 4.0 litre min-1 and PCWP 20 mm Hg. On the fourth ICU day, the systolic blood pressure was 140 mm Hg, heart rate between 80 and 90 beats min, systolic PA pressure between 25 and 30 mm Hg, PCWP 20 mm Hg, and cardiac index 3.6 litre m-2 min using a PCPS flow of 1.0 litre min. IV digital subtraction angiography at this stage showed adequate blood supply to both the lungs, except for a small apical part of the left lung. Good wall motion of the heart was observed at the same time. PCPS was then stopped for 30 min and we confirmed that the patient's haemodynamic condition remained stable. We then proceeded to wean the patient off PCPS. When the PCPS drainage cannula was withdrawn from the femoral vein, the PA systolic pressure suddenly increased from 30 to 65 mm Hg. and the ECG showed paroxysmal supra-ventricular tachycardia with a heart rate between 180-190/ min. The arrhythmia was successfully treated with cardioversion. The systolic arterial blood pressure was between 100 and 120 mm Hg. However the PA pressure remained as high as 65 mm Hg and we administered Prostaglandin 0.5 µg / kg.
After PGE1 infusion, the PA systolic pressure gradually decreased from 65 to 40 mm Hg. One hour after weaning from PCPS, the patient had a blood pressure of 120/90 mm Hg, 90-100 /min, cardiac index of 3.0 L/min, and mixed venous oxygen saturation of 73%. However, she continued to have high pulmonary pressures So we continued PGE1 at 0.2 µg / kg / min, which gradually relieved pulmonary hypertension and the PA pressure decreased to 25 mm Hg (mean).
On the tenth postoperative day, the patient's PA pressure was pressure was 33/15 mm Hg (mean 19 mm Hg) and PCWP was 10 mm Hg, so we discontinued the PGE1 infusion. Sedation was ceased and the patient gradually woke up and was obeying commands. She was extubated, and subsequently transferred to HDU and then shifted to the ward without neurological complications.


A 28-year-old male, was admitted to our ICU with surgical site infection and severe sepsis. Ten days prior to the present admission he underwent ileal resection and ileostomy for ileal perforation with underlying ileocaecal tuberculosis. On examination, he was in respiratory distress with tachypnoea, tachycardia and bilateral crepitations on chest auscultation. Arterial blood gas showed severe hypoxia. Possibilities of fluid overload as a result of aggressive fluid resuscitation and ARDS were considered and it was decided to place a central venous catheter for monitoring of central venous pressure. A catheter was placed through the left internal jugular vein with all aseptic precautions using the Seldinger technique. The catheter was gradually advanced up to the 13 cm mark without difficulty. After free return of venous blood was obtained, the catheter was felt to be placed correctly in the superior vena cava. Only unusual thing observed was patient complaining of left sided back pain on flushing the catheter with heparinized saline.
An anteroposterior chest radiograph, obtained to confirm the position of the catheter, revealed the left paramedian location of the catheter following the aortic knob and pointing laterally []. The inability to properly position the acutely dypnoeic patient barred us from taking a lateral film. The catheter was removed, as it was considered to be in one of the small tributaries of left brachiocephalic vein and an alternate venous access was obtained subsequently via the right internal jugular vein.


An 18 years old Pakistani male presented with about two days history of intermittent fever with chills, nonproductive cough, generalized headache, nausea and nonbilious vomiting. He vomited thrice on day 1 and five times on the next day. Vomitus contained food particles and was devoid of blood. Clinical examination was unremarkable except raised temperature ranging from 37.22°C (310.4 kelvin) to 39.44°C (312.6 kelvin) with relative bradycardia (pulse ranging from 56/minute to 84/minute). Initial investigations revealed raised serum alanine aminotransferase (2043u/l), low normal platelet count (165 × 109/l) and total white cell count (4.2 × 109/l) with normal differential count and morphology. Other investigations including haemoglobin, malarial parasite slides, bilirubin, alkaline phosphatase, aspartate aminotransferase, albumin, urea, creatinine, electrolytes, plasma glucose, widal test, DIC screening, urinalysis and chest radiograph were within normal limits. He was provisionally diagnosed as a case of anicteric hepatitis with differential diagnoses of malaria and enteric fever due to their high prevalence in the area. He was managed with antimalarial (artemether), third generation cephalosporin (Ceftriaxone) and supportive parenteral fluids. Samples for blood cultures, viral (including hepatitis and dengue) screening, typhi dot, serology for brucella, leptospira, rickettsia and toxoplasma were sent to laboratory.
On day 3, he developed dizziness and unsteadiness of gait and asterixis while fever with relative bradycardia, headache and vomiting continued. CT scan head revealed no abnormality. IgM anti HAV was borderline 1.40 (cut off 1.20). Repeated investigations showed rising serum alanine aminotransferase 3690u/l, prothrombin time 30 seconds (control 12 seconds), PTTK 46 seconds (control 32 seconds), fibrinogen 130 mg/dl, D-dimers >200<400, serum albumin 28 g/l, urea 13 mmol/l, creatinine 266 umol/l, sodium 133 mmol/l potassium 4.8 mmol/l, creatinine kinase 1112 u/l with CK-MB 6.1%, LDH 6130 u/l, AST 66 u/l, haemoglobin 12.8 g/l, total white cell count 11 × 109/l, platelets 116 × 109/l, pus cells(8-10/HPF) & red blood cells (5-7/HPF) seen on urinalysis. Other investigations including ECG, bilirubin, alkaline phosphatase, hepatitis B surface antigen, serology for hepatitis E, C, dengue, brucella, leptospira, rickettsia, toxoplasma and typhoid were normal. Antimalarial (artemether) was stopped when repeated malarial parasite slides were found negative. Vitamin K was added to treatment but his clinical and laboratory parameters continued to deteriorate.
On day 7, fever settled but his blood pressure rose to 170/110 mmHg and became oliguric with 24 hour urinary output falling to 150 ml while investigations revealed urea 14.1 mmol/l, creatinine 1204 umol/l, sodium 127 mmol/l, potassium 4.4 mmol/l, serum alanine aminotransferase 2149 u/l, bilirubin 77 umol/l, alkaline phosphatase 367u/l, prothrombin time 16 seconds, PTTK 39 seconds and fibrinogen 180 mg/dl. Ultrasonography showed bilateral pleural effusion (mild) and renal parenchymal disease with increased echogenicity × normal sized kidneys (Right 11.2 cm, Left 11.6 cm).
Echocardiography showed minimal amount of pericardial effusion with no evidence of tamponade. He was managed with frusemide and haemodialyzed thrice on day 7,8 and 10 via dual lumen catheter in right subclavian vein.
On day 10, he started showing signs of improvement with better control of blood pressure, urinary output improving to 900 ml/24 hours and significant improvement in the levels of serum urea/creatinine as well as the liver function tests etc. Repeated IgM anti hepatitis A virus was positive, while rest of the investigations including blood cultures, serum cryoglobulins, aldolase, rheumatoid factor, complement levels, autoimmune and vasculitic screening revealed no abnormality. Dual lumen catheter was removed post dialysis on day 10.
On day 16, investigations revealed normal serum albumin, coagulation profile, cardiac enzymes, electrolytes and blood counts while levels of serum urea 11.2 mmol/l, creatinine 246 umol/l, alanine aminotransferase 127 u/l, bilirubin 38 mmol/l, alkaline phosphatase 594 u/l were showing gradual improvement.
Follow up on day 23 revealed completely normal clinical and laboratory parameters including renal, hepatic, cardiac, pleural and hematological functions. Monthly follow up during last five months has not shown any evidence of relapse.


A 38-year-old woman from Elazig, Turkey with atrial septal defect was admitted for exertional dyspnea and fatigue. She had a general tendency and swelling both of the lower limbs at term (38-40 weeks’ gestation). Echocardiography had documented atrial septal defect () and she had three children in alive. She had an intrauterine death at 28 weeks’ gestation.
On physical examination, she presented in both lower limbs swelling. A venous color flow Doppler ultrasonography of the both lower-extremity were requested, showing bilateral venous insufficiency, but there were not peripheral venous thrombosis. On auscultation, fixed split of second heart sound and pansystolic murmur on the left side of sternal border were heard. ECG was NSR. A chest X-ray showed mild heart enlargement. Echocardiography documented enlargement of the right ventricle and both atria with atrial septal defect (approximately 33 × 38 mm) and normal function of both ventricles (). Right-sided pulmonary veins were not identified. Multidetector Computerized Tomography (CT) angiography confirmed atrial septal defect and abnormal return of right-sided pulmonary veins into the right atrium () and showed inferior vena cava on the right side of spine and showed total interruption of IVC below the hepatic veins (). Multidetector CT angiography provided full description of a complex anomaly documenting right inferior vena cava with azygous continuation, draining into the superior vena cava (, ) and hepatic veins were draining directly into the right atrium (). Ultrasound revealed polysplenia (), 0.5 cm nodule in the left thyroid lobe and 1 cm cystic mass in the right over.
A standard median sternotomy was performed. The pericardial cavity was opened and the heart was exposed. SVC was dissected out to the bridging vein, exposing the azygos vein and anomalous pulmonary veins. Cardiopulmonary bypass was established with cannulation to the ascending aorta and SVC was cannulated by L-shaped catheter, because of absence the IVC. The IVC cannula was not cannulated. After cross-clamping of the ascending aorta, cardiac arrest was obtained using St. Thomas solution through the root cannula under moderate hypothermia. A tourniquet was applied to the SVC and the anomaly was approached by a longitudinal right atriotomy parallel to the atrioventricular sulcus. We saw atrial septal defect and abnormal return of right-sided pulmonary veins into the right atrium (). We performed intraatrial rerouting and to drain the anomalous pulmonary veins into the left atrial cavity, using a patch made of a polytetrafluoroethylene (PTFE) in a patient with 5-0 polypropylene (). The suture line of the patch was placed away from the sinus node and the pulmonary veins. After the operation sinus rhythm was recovered. There were no complications with follow-up of one year.


A 62-year-old, white, Caucasian, British-origin, male lorry driver was admitted to the hospital late on a Friday night after an unwitnessed single vehicle road accident. His lorry was by the side of the road and he was found unconscious in the vehicle and immediately transferred to the local District General Hospital. On admission, he had already fully recovered, being alert and orientated but he had no recollection of the accident. He was haemodynamically stable, with normal vital signs and no neurological deficit. He complained only at a moderate headache. Physical examination has revealed a bruise on the upper part of his left anterior chest wall, left shoulder and forehead. The rest of the examination was entirely normal. The radiological investigation that followed included cervical spine and left arm X-rays in which no fracture was noted. A mobile AP chest X-ray was also done on admission, in which it was demonstrated a dilated aortic arch (). A subarachnoid hemorrhage was found on a moderate quality brain CT-scan (), which was attributed to traumatic brain injury and the patient was transferred to the regional Neurosurgical centre as a post-traumatic subarachnoid hemorrhage for observation. During the next two days, the patient was well without any neurological defect and he has been gradually mobilized without any major complaint. On Monday however, brain CT interpretation by a more senior member of the medical staff suggested that this may not be a post-traumatic but rather an aneurismal subarachnoid hemorrhage (SAH). A CT angiogram confirmed that his SAH was of aneurismal origin, due to the rupture of an anterior communicating artery (Acom) aneurysm () which was the actual reason for his accident. As the patient was neurologically intact and stable, an embolisation procedure for endovascular treatment of this aneurysm was decided for the following day (day 5 since the SAH event). Under general anesthesia, the right common femoral artery was punctured and a 6F appropriate vascular sheath was placed following our protocol for endovascular procedures. During the first attempt to catheterize the aortic arch for the standard pre-embolisation angiogram, an unusual dilatation of the thoracic descending aorta was noted, just distal to the origin of the left subclavian artery. The combination of these findings with the bruise in the upper left chest, made us suspicious of an aortic injury. The embolisation procedure was abandoned and an aortogram revealed an aortic dissection just distal to the left subclavian origin (). The patient was woken up and a chest CT followed, which confirmed the diagnosis of a post-traumatic dissection of the descending aorta. Subsequently, he was transferred to the cardio-thoracic unit and an aortic stent was successfully deployed for endovascular repair of the dissection (). He had an uneventful recovery and two weeks later, endovascular treatment of his Acom aneurysm was performed with platinum coils (). At the same time, a posttraumatic dissection aneurysm of the right common carotid artery (CCA) at its cervical segment was also found (). This was clinically silent, treated conservatively at that stage [] and the patient was eventually discharged three weeks after the primary event. At the six month follow-up, the patient had made a very good recovery and returned to full activities. The aortic dissection was not visible anymore in imaging but there was a recurrence of the previous coiled Acom aneurysm due to coil compaction. Thus, a new embolisation procedure with platinum coils was performed to treat this aneurysm recurrence. At the same stage, the right CCA dissection aneurysm was endovascularly treated using platinum coils, as it showed no signs of regression [,].


A 61-year-old Caucasian woman was referred to the emergency room of our hospital with fever, night sweats and non-productive cough since one week. She had weight lost of six kilograms in one month. Her medical history was unremarkable; she did not use medication and no recent travelling. Furthermore she did never smoked or drunk alcohol and had no gastro-intestinal symptoms. Physical examination showed an ill patient with a body temperature of 39.4°C, blood pressure of 110/70 mmHg and pulse of 100 beats/min. No lymph nodes were palpable, pulmonary and abdominal examination revealed no abnormalities. Relevant laboratory investigation results were: Hemoglobin 12.4 gm/dL, mean corpuscular volume 89 fl, leucocytes 7.7 × 109 /l, with a normal differentiation, erythrocyte sedimentation rate 51 mm/hour, lactate dehydrogenase 173 U/l and C-reactive protein 184 mg/l. The posteroanterior chest X-ray showed no pulmonary infiltrations, but a large hypodense retroperitoneal mass was seen (). Due to the condition of the patient no lateral chest X-ray could be performed.
She was admitted to the department of Internal Medicine. At that time the patient was suspected with a mediastinal tumor, lymphoma or an ectopic thymoma, Therefore a computed tomography scan was performed to identify the mass. This revealed no pulmonary infiltrations, no enlarged lymph nodes or other abnormalities. However an intrathoracic stomach surrounded with fat was found (). Our patient had a positive sputum culture with Klebsiella pneumoniae. She was diagnosed with respiratory tract infection and had been treated with antibiotics for 10 days. Her C-reactive protein normalized and she recovered well. She went home and is referred to the surgical outpatient clinic. The surgeon advised at this moment not to operate the intrathoracic stomach because she has no symptoms.


A 47-year-old Caucasian man presented with forehead swelling and puffiness around the eyes. The swelling had gradually increased over a period of two months. The patient had purulent nasal discharge and no visual symptoms. Sixteen years ago, he was involved in a road traffic accident in which he sustained a laceration on his forehead as he collided with the windscreen of the car. He attended his local accident and emergency department and the laceration was treated by primary suturing under local anaesthesia (LA). No Plain radiographs were carried out. The wound healed well and the patient had no problems.
On examination, a 5 cm linear scar was noted over the forehead swelling. The swelling measured 6 cm x 3 cm and was mildly tender. The patient underwent a complete ear nose throat examination. The nasal speculum examination showed sinusitis of the left paranasal sinuses which was confirmed by endoscopy. The CT (computed tomography) scan of paranasal sinuses () showed a radio-opaque foreign body (FB) in the left ethmoid sinus with opacification of all sinuses on the left side.
The patient underwent functional endoscopic sinus surgery with removal of glass fragment and draining of the sinuses. His symptoms resolved completely following the procedure. At 12 months follow-up, the patient has had no similar problems and remains asymptomatic.


A 9-month-old Caucasian girl was referred by a health visitor to our centre with a 6-week history of being unable to look upwards, constant neck flexion, and deviation to the right side. When distracted while sitting, the child would turn her whole body around instead of turning just her neck to look for the source of the distraction. She had no history of ear discharge, swallowing difficulties, tuberculosis, or trauma, and she had no significant past medical illness or history. She was not receiving any treatment or medication.
On examination, the child was active, alert and afebrile. Her weight was 8.6 kg (25th-50th percentile; height unknown). She kept her neck persistently flexed, with right-sided torticollis. Passive movements of the neck were restricted. There was tenderness over the left mastoid process, but no tenderness along the sternocleidomastoid muscle. There were a few small, discrete, non-tender, freely mobile lymph nodes palpable on both sides of the neck. No obvious abscess was palpated in the neck, and there were no other signs of inflammation. The carotid arteries were palpable and normal. Otoscopic examination revealed normal tympanic membranes, and there was no discharge of pus from either of the ears. Examination of the throat showed a slight bulging of the posterior pharyngeal wall on the left side; the tonsils appeared normal. The remainder of the physical examination was normal. A clinical diagnosis of acquired non-dystonic torticollis was made.
Further investigations, including full blood count and tests for urea, electrolytes, and C-reactive protein, were all within the normal ranges. Glandular fever screening and the Mantoux test were both negative. An X-ray of the neck showed enlarged retropharyngeal and posterior tracheal spaces (), while ultrasonography of the neck confirmed cervical lymphadenopathy and indicated the presence of inflammatory changes to the lymph nodes. A computed tomography (CT) scan of the head and neck showed a soft-tissue swelling on the left posterior aspect of the pharynx, which was enhanced on contrast-enhanced images in keeping with the infective pathology ( and ). There was also evidence of left acute mastoiditis, with large defects in the mastoid air cells measuring 9.9 mm in size. These defects were suggestive of a small abscess ( and ). The parapharyngeal spaces were normal.
The patient was diagnosed with a retropharyngeal abscess secondary to an acute mastoid abscess. Blood cultures were negative. She was admitted to the High Dependency Unit (HDU), and treatment with intravenous ceftriaxone 80 mg/kg/q.d. and intravenous flucloxacillin 50 mg/kg/q.i.d. was initiated. The Ear, Nose and Throat (ENT) and anaesthetic teams were informed and warned of the possibility of an emergency situation. As the child was stable, medical management continued with regular reviews. Over the next 72 hours, her neck movements gradually improved. Intravenous antibiotics were continued for 7 days, during which time considerable clinical improvement was observed. Physiotherapy was initiated on day 7 to improve the range of neck movements, and the intravenous antibiotics were changed to oral co-amoxiclav for a further 7 days. After 15 days, the patient’s clinical condition had returned to normal. She was then referred to a regional tertiary pediatric ENT department, where our diagnosis of retropharyngeal abscess secondary to mastoid abscess was confirmed. Four weeks after the initiation of treatment, the patient underwent an additional CT scan, which showed complete resolution of the previously observed abnormalities ().


A 20-year-old unmarried female student, resident of a slum area of Karachi, presented in July 2008 in the out-patients clinic of a government-run tertiary-care hospital in Karachi, Pakistan, with complains of rash for the last 15 years and diarrhea (on and off) for the last 8 years, generalized weakness, fatigue, occasional spasm of both hands and twitching of the face for the last 4-5 months. The rash developed when she was 5 years of age, was initially papular, progressed to fluid-filled vesicles and was associated with severe itching. It occurred mostly along the back of her arms and trunk and at the front of the thighs, persisted for 1-2 months, and gradually improved to some extent by topical steroids and oral anti-histamines prescribed by a doctor in the local primary health care centre, only to recur after a period of 2-3 weeks.
At 11 years of age, patient developed symptoms of severe watery diarrhea, which followed a 1-2 week course, occurred 4-5 times in a day, unassociated with any particular food intake, settled down without treatment, only to recur after a symptom-free period of 2-3 days. There was no associated fever, nausea, dyspepsia, bloating, anorexia, weight loss, arthralgias or any neurological manifestations.
The patient denied any history of smoking or alcohol intake. Family history was also unremarkable.
The patient consulted various doctors in her locality who prescribed her multivitamins, calcium and multiple courses of a variety of antibiotics with no alleviation of symptoms. During the last 2 months, her symptoms increased in severity and she lost 4 kilograms weight.
On examination, patient had a thin, lean built (height: 5 feet, 2 inches and weight: 42 kg). She appeared pale and had papulovesicular rash; specially on the extensor surfaces of her thighs, legs, arms and trunk, and multiple hyperpigmented areas all over her body; residues of old healed lesions. Her systemic examination revealed coarse skin and hair and cheilosis around the mouth. Chvostek's and Trousseau's signs were also positive. On the basis of clinical features, patient was suspected to have a malabsorption syndrome.
Laboratory investigations revealed hemoglobin of 10.8 g/dl (hematocrit: 32%, MCV: 105cu-µm). Total leukocyte count (TLC), platelets, urea, creatinine, electrolytes, liver functions, serum proteins, prothrombin time, partial thromboplastin time, detailed reports of urine and stool, serum thyroid stimulating hormone (TSH) and parathyroid levels were all within normal ranges. In the light of decreased hemoglobin with high MCV, serum vitamin B12 and red cell folate levels were performed. Vitamin B12 levels were normal while red cell folate levels were at a lower normal range (200 ng/ml). Thus, folate deficiency was suspected to be the cause of the macrocytic blood picture. Serial serum calcium done in the last two months remained persistently low (6.9 mg/dl-7.5 mg/dl). Vitamin D3 levels were also low (28.8 n/ml). Chest X-ray was normal and X-rays of wrist and hands showed slight osteopenia. In the light of history and examination, complemented by papulovesicular skin lesions, a provisional diagnosis of celiac disease with dermatitis herpetiformis was made and anti-tissue transglutaminase (anti-TTG) antibodies (IgA and IgG) and anti-endomysial antibodies (anti-EMA) were performed. These were within the normal range. Serum total IgA levels were also normal.
Although the serology was negative, an endoscopy was performed on basis of a high index of suspicion and multiple biopsies were taken. Immunoflorescence biopsy of the skin lesions was also done. The patient was given a trial of gluten-free diet during her hospital stay. Interestingly, her diarrhea and skin lesions improved markedly within 1 week. The intestinal biopsy results later revealed subtotal villous atrophy with moderate chronic inflammation suggestive of celiac disease. The skin biopsy turned out to be normal, but in concert with Dermatology Department, the lesions were clinically diagnosed as dermatitis herpetiformes. The gene tests for HLA-DQ2 and HLA-DQ8 could not be performed due to unavailability of gene testing facilities. The histopathological confirmation, along with the response to gluten-free diet led to the final diagnosis of celiac disease with dermatitis herpetiformes.
Patient was counseled to continue life-long gluten-free diet, and was prescribed calcium and folate supplementation, multivitamins and minerals. Initially, she remained non-compliant and her symptoms continued, for which she also had to be re-admitted to the hospital. With repeated counseling, she understood the nature of her disease and gradually became compliant to gluten-free diet. With compliance, the diarrhea resolved completely, her hemoglobin rose to 11.9 gm/dl (MCV: 90 cu-µm), and calcium improved to 8.3 mg/dl. Nevertheless, due to the persistent skin lesions, she was prescribed Tablet Dapsone 50 mg/day. At the time of her last follow up, the skin lesions had also improved markedly and she reported considerable improvement in the quality of life.


A 75-year-old Caucasian Italian man was admitted because of ulcers on left leg. His past medical history was relevant for a long-lasting (18 years) HCV infection and a long-lasting (7 years) tIIMC resistant to antiviral therapy. He had been undergone an antiviral therapy with a combination of alpha interferon, Ribavirin and prednisolone, with a significant reduction of HCV activity, as demonstrated by a reduction of HCV-RNA levels (800000 UI/L to 13000 UI/L), but without reduction of cryocrit and B-cells (cryocrit 93/μL and B-cells 286/μL). After two years of therapy discontinuation, the patient was admitted at our unit. The HCV activity, cryocrit and B-cell levels were very high (800000 UI/L, 132/μL, 412 B-cells/μl respectively). The leg ulcers measured 8 × 6 cm and 10 × 5 cm and were very aching with signs of infection (). We started an antiviral therapy with prednisolone, Interferon-α and Ribavirin which brought to a important reduction of HCV activity (from 800000 UI/L to 54000 UI/L) with slight reduction of cryocrit (132/μL to 112/μL) and B-cells (412/μL to 338/μL). After two weeks of treatment there was no significant improvement in ulcer’s healing so we started a therapy with Rituximab. We administered a single course of RTX at a dose of 375 mg/m2 weekly for 4 weeks, and one course of 375 mg/m2 every two months as maintenance regimen. Our patient showed a mild reaction during the first infusion of RTX (mild hypotension and tremor) easily controlled with steroids administration. Treatment with RTX resulted in a slight reduction of cryocrit and B-cells, without significant improvement on ulcer’s healing. Finally, the patient underwent five sessions of plasma exchange to reduce cryocrit and a dose of RTX of 375 mg/m2 was administered. This treatment resulted in reduction of cryocrit (2 /μL) and B-cells (205 /μL) and the skin ulcers improved with important reduction of pain. The skin ulcers completely recovered in 6 months ().


A 45-year-old Caucasian uniparous woman was referred to our department of gynecology following a suspected diagnosis of adenosarcoma that had been taken from a hysteroscopic resection of an endometrial polyp. She had presented with irregular uterine bleeding of approximately 10 months in duration without dysmenorrhea nor any other symptoms. The gynaecologic examination revealed that the uterus and ovaries were of normal size and that the parametrial tissues were free. The ultrasonographic evaluation showed a small non specific endometrial hyperechogenic 1 cm mass. The pathologic diagnosis of the endometrial tumor removed by surgical hysteroscopy was a probable fibroid polyp. A diagnostic hysteroscopy was performed after 3 months because of uncertain diagnosis and showed a recurrent uterine polyp. Pathologic examination of the endometrium was normal. Magnetic resonance imaging of the pelvis showed a small non-specific endometrial irregularity. The polyp was removed by surgical hysteroscopy and pathologic examination was benign despite few probable atypical stromal cells. According to our surveillance protocol, the performed diagnostic hysteroscopy was normal and the endometrial biopsy showed no malignancy. A new surgical hysteroscopy was performed 2 months later because of irregular uterine bleeding and showed a recurrent uterine polyp. The presence of atypical stromal cells was confirmed by standard examination with Hematoxylin & Eosin Safran of the removed uterine polyp showing enlarged pleiomorphic nuclei. Finally, a total abdominal hysterectomy was performed because of atypical cells and suspected uterine adenosarcoma. The hysterectomy specimen confirmed the presence of uterine adenosarcoma associated to myometrial invasion to the inner half of the myometrium as well as lymphatic and multiple vascular tumor emboli. The histochemical staining for estrogen receptor was negative. Pathologic results of second bilateral salpingo-oophorectomy and pelvic lymphadenectomy were normal. The patient recovered well with no evidence of recurrent disease 12 months after surgery.


Our case is that of a two-month-old Saudi female (). The family has a history of two early infantile deaths from undiagnosed recurrent chest infections associated with generalized skin erythema. Pregnancy and delivery were uncomplicated. Birth weight was 3500 g. At the age of 2 weeks, the infant presented with generalized scaly erythroderma associated with persistent fever and later developed pneumonia. There was no lymphadenopathy and no hepatosplenomegaly. Subsequently, she developed protracted diarrhea and failure to thrive. The patient had elevated numbers of circulating white blood cells and low hemoglobin (Hb). Flow cytometry showed a critically low (absent) B-cell count with a predominance of T cells (82%) that showed high memory (CD45RO) and activation (CD25) expression. There were normal levels of natural killer cells with normal expression of gamma/delta TCR cells, but no detectable CD19+ or CD20+ B-cells. Both CD4 and CD8 T cells were significantly suppressed; only 21% of CD4 and 33% of CD8 were activated in response to phytohemaglutinine (PHA). Humoral immunity was also abnormal, with elevated serum IgE levels. The nature of the T cells and the remarkable absence of the circulating B cells raised the possibility of a defect in immunoglobulin gene recombination. The histopathological finding of the skin biopsy revealed atypical lymphoid cells that are occasionally noted in the dermal infiltrate. The immunostaining showed that most of the lymphoid cells infiltrating the dermis were of T cell type. The staining of S-100 (polyclonal) was negative in the target cell, suggesting an absence of normal follicles. RAG mutation analysis of our patient revealed a homozygous missense mutation (c.1299G>A) in the RAG1 gene leading to replacement of the normal Arginine (R) amino acid to Histidine (H) at the 396 codon position (R396H) of the resultant normal protein.
This is the first report in the literature showing a homozygous R396H mutation in the RAG1 gene presenting itself with features of Omenn’s syndrome. Our patient presented with some of the typical clinical manifestations of Omenn’s syndrome that are characterized by a generalized early-onset of exfoliative erythroderma, persistent infection, alopecia, elevated IgE level and elevated white blood count due to lymphocytosis. Skin biopsy showed autologous T-cell infiltration and the absence of a germinal center, which is consistent with histopathological findings in Omenn’s syndrome [].
The patient had no B cells, and the majority of her WBCs were T cells that had a very high expression of the CD45RO memory marker and IL-2R (CD25). Both CD4 and CD8 T cells showed significantly reduced capacity to respond to PHA stimulation. Villa et al. (2001) and Corneo et al. (2001) described patients who showed a nearly complete absence of B cells, reduced number of T cells, and normal NK.
The RAG mutation analysis in our patient revealed a homozygous missense mutation (c.1299G>A) in the RAG1 gene, which led to the replacement of the normal Arginine amino acid to Histidine at the 396 codon position of the resultant normal protein. This mutation has been previously reported in association with Omenn’s syndrome in which this missense mutation (c.1299G>A) was detectable in a patient who was heterozygous for the allele; the mutation was associated with a protein-truncating mutation [,].
The location of this missense mutation (i.e., R396H) is within the RAG1 homeodomain region, which is responsible for the recognition of and binding to the nonamer motif of the recombination signal sequence (RSS) []. Biochemical analysis performed on classic Omenn’s syndrome cases that are harboring a one-allele missense mutation in their RAG1 gene maintained partial V(D)J recombination activity, which accounted for the generation of detectable numbers of activated, anergic, oligoclonal T-lymphocytes []. In our case, the lack of circulating B cells, together with oligoclonal expansion of T cells, raised the possibility of RAG deficiency despite the clinical presentation. We suspect that the presence of a homozygous R396H mutation in our patient likely destroyed the function of the RAG1 protein and hence impaired the recombination activity that may be associated directly or indirectly with impairment in B cell immunity. The result of this may be an increased occurrence of life-threatening infections, and, without proper treatment, the condition may lead to death within the first year of life. This explains the death of our patient's two sisters who presented with symptoms consistent with Omenn’s syndrome during their few months of life.


A 33-year-old Turkish woman patient was admitted with complaints of waist pain that extended down her left leg. She was diagnosed with left L5-S1 paramedian disc herniation and admitted for operation (). In her preoperative neurological examination, she showed a left laseque of 45 degree +, hypoesthesia in left L5, S1 dermatomes and left foot dorsiflexion (DF) strength of 4/5. Left L5 hemipartial laminectomy, L5-S1 discectomy, and foraminotomy were performed. No complication occurred during the operation. Postoperative early neurological examination did not determine any new neurologic deficit. At the postoperative 12th hour, neurological deficiency was observed. Upon neurological evaluation, left foot DF strength was 0/5, plantar flexion (PF) strength was 2/5, and urine incontinence and hypoesthesia in left L4, L5, S1 dermatomes were determined. Lumbar magnetic resonance imaging (MRI) confirmed acute SEH at the surgical site (), and the patient underwent reoperation. Blood clots were evacuated and decompression was performed. There was no active bleeding at the site (). Early clinical recovery was observed after reoperation, On postoperative 5th day neurological examination showed left foot DF strength 2/5, PF strength 5/5 and there was no urine incontinence. The patient was admitted to physical therapy and a rehabilitation program on the 7th day postoperation. 4 months postoperation, complete recovery was observed in the patient’s motor deficits.


This is a case study of a non-smoker 74-year old female patient referred to ORL Department with a 2-months history of vertigo. History and clinical findings indicated the presence of vertigo with central type characteristics. Specifically the patient had a feeling of unsteadiness without spinning, absence of nausea and vomiting and a direction-changing nystagmus. Otologic assessment had normal findings and palpation of the neck did not reveal nodal disease. Magnetic resonance imaging (MRI) of the brain revealed 4 metastatic lesions. The location of metastases was the cerebellum () and temporal lobe on the left side and occipital and parietal lobe on the right side. Interestingly a small hypodense lesion in T2 weighted sequences was also revealed on the posterior end of the left inferior turbinate (). Nasal endoscopy showed a dark coloured mass originating from the posterior end of the left inferior turbinate () and a biopsy followed under local anesthesia. The histopathological examination of the nasal lesion biopsy revealed pleomorphic melanin pigmented cells (). Immunohistochemistry showed that the tumour cells stained positively for S-100 and HMB-45 (), confirming the diagnosis of a malignant melanoma. Further workup, included an MRI of the neck, abdomen and chest, without evidence of other primary site or distant metastasis. Thorough dermatological examination did not reveal any site of primary cutaneous melanoma.
The presence of distant metastases and the absence of nasal symptoms such as epistaxis were contra-indications for surgical treatment. The patient followed a scheme of radiotherapy with 3000 cGy whole brain and primary site irradiation divided in 10 sessions followed by 3 cycles of chemotherapy with Dacarbazine (850 mg/m2). The patient 8 months after diagnosis still has no nasal complains however she developed lung metastatic lesions.


A 68-year-old yellow raced Japanese female had a chronic history of sigmoid volvulus with persistent constipation due to paralysis of the sigmoid colon. Sigmoidectomy is considered the best therapy for such conditions. The possibility of malignancy and other abdominal diseases was eliminated by performing colonoscopy, abdominal computed tomography, and barium enema. The day before the operation we prepared the colon using 1800 ml isotonic magnesium citrate.
After inducing general anesthesia, the patient was placed in the lithotomy position. The first port (10 mm) was placed near the umbilicus, the second (5 mm) in the left upper quadrant, the third (5 mm) in the right middle flank, and the last (5 mm) in the right lower quadrant (). After inserting the trocar, the colonoscope was inserted into the splenic flexure through the anal aperture under colonoscopic and laparoscopic monitoring. The length was sufficient to prevent the recurrence of sigmoid volvulus, which was estimated to be 40 cm in this patient. Intracolonic lavage was performed with polyvinylpyrrolidone iodine, using a colonoscope. First, an 18 G needle was inserted into the sigmoid colon to the oral cutting point. Through this opening, a 2-0 nylon suture was inserted into the colon. It was retrieved using snare forceps, and the colonoscope was removed from the anus. The anvil was attached to it, allowing it to be pulled back to the sigmoid colon (). The linear stapler was used to cut the anal end of the anvil and the end of the sigmoid colon (). The mesosigmoid colon was cut using laparoscopic coagulating shears. Before anastomosis, the anvil was cleaned with iodine. The rest of the colon was anastomosed from the oral side of the anvil to the anal side of the shaft. Finally, the resected sigmoid colon was removed through the umbilical incision. An incision of less than 2 cm was adequate.
Two days after surgery, the patient started eating and her body temperature normalized. The following day, the patient walked comfortably with only slight abdominal pain. Her bowel function improved compared with its preoperative status. One week after surgery, the operative scar healed completely () and the patient was discharged with no complications.


A 71-year old Caucasian lady presented to an Ear Nose and Throat (ENT) department with history of sore throat and odynophagia of six weeks duration. Endoscopy revealed an advanced hypopharyngeal carcinoma involving the posterior pharyngeal wall, both pyriform fossae and the postcricoid region. It was clinically staged as T3N2b postcricoid carcinoma. The histology showed it to be a poorly differentiated squamous cell carcinoma. The patient was treated by radiotherapy and neo-adjuvant chemotherapy over a six-week period. Following this treatment she was fed through a fine bore nasogastric tube and sent back to the ENT unit for recuperation. It was noticed that the tube was blocked. This was removed and attempts were made to insert a new fine bore tube with a stylet, and it was introduced up to the 50 cm mark without undue resistance. The patient, who was awake, coughed a few times during insertion but the coughing subsided spontaneously and rapidly. This therefore did not arouse any suspicion, and the procedure was deemed successful as confirmed by the auscultation of the epigastrium during insufflation of air. A check chest x-ray carried out immediately after tube replacement however showed the tube coiled in both main bronchi (). Oesophagoscopy following the failed tube insertion showed a marked stenosis of the upper oesophagus, which was dilated. With the diagnosis of oesophageal stricture requiring repeated dilatations, the patient was discharged home on percutaneus endoscopic gastrostomy (PEG) tube feeding and was later weaned off after a few dilatations.


A 32-year-old Turkish woman with gravida 3, parity 0, abortus 2, presented with a 7 weeks and 6 days pregnancy according to her last menstrual date. On her first visit transvaginal ultrasonography revealed a wide fetal pole and two yolk sacs in a unique gestational sac (). Ultrasonography was performed using a 7.5 MHz transvaginal probe with two-dimensional ultrasonography (Logic 500, GE Medical Systems) in Gazi University Hospital, Department of Obstetrics and Gynecology, Division of Perinatology. Zooming in on the image showed fetal cardiac activity in two different sites on a wide embryonic structure. Heart rate determination with Doppler revealed different fetal cardiac activities of 140/min and 135/min (). CRL (crown-rump length) measurements were 7.1 mm and 7 mm, respectively, consistent with 6 weeks and 4 days of gestation (). In the ultrasonographic examinations 45 minutes and 1 day later, there were no changes in the embryonic appearance or the positions of the embryos relative to each other. The embryos seemed to be fused to each other at the thoracic region (thoracopagus). The family history of the patient was positive for twining; during her first pregnancy at 11 weeks a singleton sac and embryo were evacuated and during her second pregnancy at 9 weeks two sacs and two embryos were evacuated after the diagnosis of missed abortion.
Since the patient had had recurrent misabortions, she wanted to continue with her pregnancy. However, when the ultrasonography was repeated 2 days later, no cardiac activity of the fetuses was observed. With the diagnosis of missed abortion, the products of conception were surgically evacuated and placental tissue samples were obtained. The tissues were then examined and cleaned by blotting on an absorbent tissue pad. Maternal blood clots were removed from the placenta, and 10-20 mg of placental villi was placed into culture medium. A sample was set up for complete karyotype analysis in the cytogenetic laboratory and cultured. The cytogenetic examination of the material revealed a 46 XX normal karyotype. All pregnancies of this patient were spontaneous and the assays for recurrent gestational losses revealed no pathology. The maternal and paternal karyotypes were 46 XX and 46 XY, respectively, and the parents were not consanguineous. Serum folic acid levels of the mother were within normal limits.


A 64-year-old Caucasian male from Italy complained of onset of thoracic pain which gradually developed after undergoing a left-sided pleural effusion drainage 9 months earlier; at that time he was dismissed from the hospital without any further investigation since pleural fluid cytologic analysis did not show malignant cells.
Because of progressive worsening of his symptoms he returned to medical attention. Complete cutaneous healing of the drainage insertion site was seen at physical examination which also revealed tenderness of chest wall exacerbated by digitopression.
Ultrasound of the chest wall was performed showing an inhomogeneous hypoechoic subcutaneous soft tissue lesion with ill-defined borders () corresponding to the prior drainage site. Pleural calcifications and effusion were also seen () and further imaging was recommended.
A contrast enhanced chest multidetector CT showed left hemithorax volume loss with concentric nodular pleural thickening () involving the parietal, mediastinal, diaphragmatic pleural surfaces as well as the interlobar fissure. A subcutaneous enhancing soft tissue plaque in the left latissimus dorsi muscle (,) corresponding to the sonographic finding was also noticed. Thinner scattered partially calcific pleural plaques were seen on the right hemithorax. No mediastinal adenomegalies were present.
An FDG-PET scan was performed showing increased left pleural and chest wall () radiotracer uptake whilst no hypermetobolism was noticed in right pleural plaques. Imaging findings were consistent with drainage tract metastasis from underlying malignant mesothelioma which developed because of professional asbestos exposure (the patient was a former plumber).
CT-guided biopsy subsequently confirmed the diagnostic impressions.
The patient was considered unresectable because of the extensive diaphragmatic involvement and was then referred to an oncologist who treated him with radiotherapy, chemotherapy and palliative care. He passed away 1 year later because of respiratory insufficiency.


An 8-year-old boy presented with complaints of short stature and an abnormal gait. According to his parents, the boy was normal until 3 years of age when he developed waddling gait, deformity of lower limbs, and retarded growth. The younger sibling was also normal since birth but had started developing waddling gait around 2 years of age.
Physical examination of the elder child revealed markedly reduced height measuring only 94 cm (<3rd percentile for age). Both the upper and lower segment length was reduced, but the limbs were disproportionately shortened. The upper segment measured 59 cm (mean for age is 65.4 cm), while the lower segment measured 35 cm (mean for age is 60 cm). The ratio of the length of the arm to forearm compartment was 0.62 and that of thigh to leg compartment was 0.69. In addition, there was limited elbow extension (up to 130° only), genu valgum deformity, and exaggerated lumbar lordosis. Systemic examination and intelligence were normal [].
The younger child was 83 cm tall (50th percentile of age is 84.10 cm) with a upper segment length of 50 cm (normal mean for age is 51.3 cm) and leg length of 33 cm (mean for age is 34 cm) and an exaggerated lumbar lordosis. Systemic examination and intelligence were normal [].
The parents were of normal height and intelligence. They, however, had a consanguineous marriage. There was no family history of dwarfism. A skeletal survey of both siblings was obtained.
In elder child, the radiograph of pelvis revealed broad and squared iliac wings, narrow sacrosciatic notches, and dysplastic acetabuli with horizontal roofs. Both femora and humeri were disproportionately shortened with a characteristic medial beak at femoral neck []. Metaphysis of all long bones were markedly flared and irregular with deformed, irregular, and fragmented epiphyses []. The lumbosacral spine [] revealed thoracolumbar platyspondyly with normal interpedicular distance. Carpals were underdeveloped with short and broad metacarpals and phalanges []. Skull radiographs, however, were normal.
In the younger child, the pelvic radiograph revealed squared iliac wings with dysplastic acetabuli and underdeveloped femoral epiphysis. The long bone shortening and severe metaphyseal changes seen in the elder sibling had not yet developed. The spine revealed mild platyspondyly [].
Based on clinicoradiological features, a diagnosis of pseudoachondroplasia was made with classical features in elder child and early manifestations of this uncommon disorder in younger sibling.


A 38-year-old, gravida 8, para 1-0-6-1, woman presented with a dichorionic diamniotic twin intrauterine pregnancy with discordant growth. Twin A appeared normal but twin B was 37% smaller. Amniocentesis at 18 weeks gestation showed both twins with karyotype 46 XY. Fetal echocardiogram at 28 weeks on twin B was concerning for possible ventriculoseptal defect and coarctation of the aorta. Ultrasound at a late gestational age of 32 weeks on twin B showed normal amniotic fluid and renal development. However, a filling urinary bladder was not clearly visualized in twin B compared to twin A. A 2-3 cm diameter lower abdominal mass and extracorporeal liver with an entering vessel suspicious for omphalocele was seen on twin B ().
The patient was referred to pediatric surgery for counseling on abdominal wall defects, specifically omphalocele and gastroschisis. At 35 6/7 weeks, the patient underwent cesarean section delivery. Examination of newborn B showed a low set umbilicus, pubic bone diastasis, and epispadias. The anterior abdominal wall mass was infraumbilical with a large, everted mucosalized surface and identifiable ureteral orificies consistent with bladder exstrophy ().
At birth, the pediatric urology service was consulted for management of twin B. An echocardiogram showed a minor patent ductus arteriosus without a ventriculoseptal defect or coarctation of the aorta. On day one of life, twin B, weighing 1.8 kg, was taken for a classic staged exstrophy-epispadias repair first with primary bladder closure. The pubic symphysis was rigid and fixed with a pubic bone diastasis of approximately 3 cm. Osteotomies were not performed due to the risk of increased blood loss and additional operative time.
Twin B had an uneventful recovery from the first stage of the bladder exstrophy repair and was discharged home on postoperative day 38. At his 2 month followup clinic visit, his parents reported some nights with a dry diaper, reflective of good bladder capacity and hopeful urinary continence. Renal bladder ultrasound showed growing kidneys and a filled bladder ().


A 20-year-old multiparous (gravida 2) woman at 28 weeks' gestation was referred for a fetal well-being examination. There was no history of consanguinity and the family history was unremarkable. Her previous pregnancy had been uneventful.
USG showed a dilated trachea [], enlarged hyperechoic lungs, inferiorly displaced and flattened diaphragms [Figures and ], minimal fetal ascites, excessive amniotic fluid volume (amniotic fluid index: 20 cm), and a small heart because of compression by the obstructed lungs []. These findings were diagnostic of CHAOS. We discussed the possible unfavorable outcome of the pregnancy with the parents who chose not to terminate the pregnancy because of religious reasons.


A 26-year-old male riding a motorbike was struck by a truck and sustained closed fracture of right tibia and ipsilateral fibula. The patient had associated exhaust pipe thermal burn over the anterolateral aspect of the leg. The fracture was in the middle third of the leg. Clinically, there was only swelling of the compartment with mild pain at the fracture site. The absolute anterior compartment pressure was 54 mm Hg at the level of the fracture and the differential pressure was 16 mm Hg. A double incision fasciotomy of all the four compartments was carried out within six hours of injury. There was no evidence of muscle necrosis. The fracture was stabilized with interlocking nail. Primary wound closure was not attempted. The wounds were covered with split skin graft after five days. The fracture united in 15 weeks time. The patient did not have any sequelae of acute compartment syndrome at the latest follow-up at 22 months after injury, except for the presence of a scar over the lateral wound.


A 29-year-old male sustained closed fracture involving the middle third of both bones of the right leg following injury by a speeding vehicle. The fracture was non-comminuted. The patient had stretch pain and swelling of the compartment. The absolute anterior compartment pressure was 48 mm Hg and the differential pressure was 22 mm Hg. Four-compartment decompression was performed using double incision fasciotomy within eight hours of injury. The fracture was stabilized with interlocking nail. Medial wound was closed primarily and the lateral wound was covered with a split skin graft after seven days. The fracture united in 18 weeks time. He did not have any neuromuscular deficit at the latest follow-up (16 months) after injury, except for a scar over the lateral wound.


A 36 kg, 12-year-old boy with a past medical history significant for cerebral palsy, epilepsy, hydrocephalus, cortical blindness, and neuromuscular atrophy presented for posterior spinal fusion. Past surgical history included multiple ventricular peritoneal shunts, gastric fundoplication, and bilateral hip surgeries. The patient was receiving divalproex sodium for seizures. The physical exam was unremarkable.
Anesthesia was induced with sevoflurane in a mixture of nitrous oxide and oxygen. An uncomplicated tracheal intubation was performed followed by placement of peripheral intravenous access, central line, and arterial line. Following prone positioning and avoiding abdominal compression, total intravenous anesthetic (TIVA) was administered with propofol 180 mcg kg−1min−1 and remifentanil 2 mcg kg−1min−1. As combined motor and somatosnesory evoked potential (SSEP) monitoring were used, TIVA with avoiding muscle relaxants was the anesthetic plan of choice. Two hours later, hypotension ensued with mean arterial pressure (MAP) of 46–50 mmHg. Propofol and remifentanil were decreased to 150 mcg kg−1min−1 and 1 mcg kg−1min−1, respectively. Phenylephrine 50 mcg and calcium gluconate 100 mg IV were administered. A unit of packed blood cells (PRBC) was administered. Over the following 6 hours, dopamine infusion (5 mcg kg−1min−1) was initiated; propofol and remifentanil were decreased to 75 mcg kg−1min−1 and 0.075 mcg kg−1 min−1, respectively. Phenylephrine 7000 mcg, calcium gluconate 1200 mg, sodium bicarbonate 100 mEq and calcium chloride 600 mg, 5200 mL normal saline, 3 units PRBCs, and 840 mL from cell saver were administered. Two hours later, the patient became hemodynamically unstable again with blood pressures of 48–65/18–38 mmHg and HR 122–135 beat min−1 along with worsening metabolic acidosis. Propofol infusion was stopped, dopamine infusion was increased to 7 mcg kg−1min−1 and a phenylephrine infusion was initiated at 5 mcg kg−1min−1. Bicarbonate 100 mEq and hydrocortisone 100 mg were administered. TIVA was stopped and sevoflurane (1%) was initiated. Phenylephrine was stopped and vasopressin infusion was initiated along with one more unit of PRBCs. When the patient was turned into supine, his BP stabilized to 100/72 mmHg within minutes (), he remained stable and was transferred to the pediatric intensive care unit with his trachea intubated. The patient was weaned off the vasopressors overnight, and his trachea was extubated in the following morning without sequelae.


A 40-year-old male laborer visited our outpatient clinic complaining of paresthesia and weakness in his left upper extremities. He had fallen off a truck 9 months earlier and sustained a fracture on the middle third of his left clavicle. He was treated by a local orthopedist using a figure-8 bandage, which was removed 6 weeks later. At the time of the injury and after removing the bandage, he did not report any neurological problems. He returned to his job 3 months after the injury. However, seven months after the injury, he began to experience pain and paresthesia along the medial aspect of his left arm and ulnar digits. In addition, he reported progressive weakness in his left extremities, and was unable to work.
The physical examination revealed a visible, palpable, and non-tender prominence over the middle third of the right clavicle. The patient demonstrated a full range of active and passive motion in the left shoulder but experienced pain and paresthesia, which was exacerbated during the Adson and 3-minute Roos tests.
Plain radiographs showed a typical deformity of malunion of the clavicle with overlapping proximal and distal fragments (). Magnetic resonance imaging of the shoulder showed an abnormal signal on the coronal T2-weighted image of the left brachial plexus, which was compressed by the inferiorly protruded fragment of the clavicle (). A nerve conduction study and electromyography demonstrated a decreased velocity and amplitude of ulnar nerve conduction from Erb's point to the axilla. In addition, increased insertional activities and positive sharp waves were observed in the C8 and T1 innervated muscles. A diagnosis of neurogenic TOS secondary to clavicular malunion was made based on the patient's history, physical examination, imaging studies and electrodiagnostic tests. We planned to perform an anterior and middle scalenectomy with a first rib resection.
With the patient under general anesthesia, an anterior and middle scalenectomy was performed via the supraclavicular approach (). We did not perform the planned first rib resection because the callus and malalignment of the clavicle did not narrow the costoclavicular space and did not compress the neurovascular structures directly. The brachial plexus beneath the clavicle was covered with a normal padding of fat that did not adhere to any of the structures surrounding it.
Immediately after surgery, the pain and paresthesia in the left upper extremities had improved considerably. Ten weeks after surgery, another nerve conduction study and electromyography revealed complete symptom relief. The patient was asymptomatic 16 months after surgery. In addition, magnetic resonance imaging, which was carried out 16 months after surgery, showed that the brachial plexus, distorted due to compression from a malunited clavicle, lined up in a straight line in contrast to the alignment observed before surgery ().


A 39-year-old man was referred from the orthopedic clinic to the endocrine clinic for re-evaluation because of suspected metabolic bone disease. His illness had started 3 years earlier, when he complained of low back pain that was progressive and associated with pain in the lower limbs and shoulders. A few months later, he developed limping on the left leg. Initially, a lumbar disease was suspected, but magnetic resonance imaging (mri) of the area was negative for disc prolapse. The patient was treated symptomatically with painkillers. Later, he complained of diffuse bone pain, accompanied by generalized muscle weakness, which led to severe debilitation. He had difficulty walking and standing from a sitting position. There was no family history of a similar condition.
Clinical physical examination revealed severe proximal muscle weakness and waddling gait. Heart, chest, and abdominal examinations were within norms, and no abnormalities were detected. Complete blood count was normal.
Biochemical evaluation revealed persistent hypophosphatemia 0.6 mmol/L (normal range: 0.81–1.6 mmol/L). Multiple determinations of serum calcium were normal: 2.1, 2.2, and 2.3 mmol/L (normal range: 2.0–2.6 mmol/L), but serum alkaline phosphatase was 839, 1910, 2093 IU/L (normal range: 100–290 IU/L). Urea at 6 mmol/L, creatinine at 60 mmol/L, and sodium and potassium levels were normal. Parathyroid hormone (pth) was 50 pg/mL (normal range: 7–53 pg/mL). Serum 25-hydroxycholecalciferol was 19 ng/L (normal range: 8.9–46.7 ng/L) and 1,25(OH)2- cholecalciferol was low-normal at 48 pmol/L (normal range: 48–110 pmol/L). Serum protein electrophoresis and thyroid function tests were normal. The patient’s urine was negative for protein and glucose, and no metabolic acidosis was present. Urinary inorganic phosphorus excretion was 18.5 mmol/24 h (normal: <32.3 mmol/24 h), calcium was 4 mmol/24 h (normal range: 2.5–7.5 mmol/24 h), and creatinine was 20 mmol/24 h (normal range: 7.5–17.7 mmol/24 h). The maximal rate of renal tubular reabsorption of phosphate to the glomerular filtration rate was 1.84 mg/dL (normal range: 2.3–4.3 mg/dL) –.
Roentgenologic examination revealed generalized osteopenia. A three-phase 99Tc bone scan revealed a generalized increase in osteoblastic activity in the bony skeleton with decreased renal activity. This pattern is known as a “superscan,” which is usually seen in metabolic bone diseases, including primary and secondary hyperparathyroidism. An increase in focal activity was observed in the left calcaneus, mostly because of overuse, and in the patella of the left knee. Because of these clinical, biochemical, and Roentgenologic findings, oncogenic osteomalacia was suspected.
Computed tomography (ct) imaging of the neck, chest, left calcaneus, and right patella showed no soft-tissue masses to indicate the possible location of the tumour. Abdominal, renal, and pelvic ct imaging showed right middle calyceal or parenchymal calcifications. A well-defined enhancing soft-tissue-mass lesion measuring 5×1.2×1 cm was seen medially to the left psoas muscle at the level of lumbar vertebra 4 (L4). This mass contained fatty components and appeared adherent to the left transverse process of L4 ().
The tumour was resected on January 13, 2005, at Jordan University Hospital. Histologic examination showed an unencapsulated tumour with a variegated microscopic appearance, composed of a mixture of benign mesenchymal cells (). Those cells were admixed with wider areas showing prominent chondroid differentiation. Islands of mature adipose tissue were also identified, as was a foci of osteoid-like matrix. The tumour contained a prominent microvasculature ranging from purely capillary-sized vessels to thicker, hyalinized ones, some of which resembled an aneurismal bone-cyst-like pattern. No evidence of malignancy was found. The pathologic diagnosis was a mesenchymal tumour (mixed connective- tissue variant), completely excised (5×5 cm) with no evidence of involvement in the excised 3 adjacent aortic lymph nodes.
Three months after surgery, the patient was asymptomatic. His weakness improved, his phosphate was normal (0.82 mmol/L), and only a slightly elevated alkaline phosphatase was recorded (300 IU/L). Eighteen months later, the patient was re-evaluated. There were no complaints, and all laboratory investigations showed values within normal ranges. Another re-evaluation, 3 years after removal of the tumour, revealed no symptoms or complaints. Laboratory investigations at that time were also normal.


A 24-year-old Yoruba Nigerian female presented with a four month history of hypertension and intermittent bilateral frontal headache. There was an associated history of photophobia, tinnitus, palpitation and diaphoresis. She admitted having heat intolerance and insomnia. She had lost weight significantly. There was no history of seizures or loss of consciousness. Examination at presentation revealed an anxious patient. There was no demonstrable anterior neck swelling. Her pulse rate was 100 per minute, regular and the blood pressure was 190/100 mmHg. There were no significant findings in the abdomen. A tentative diagnosis of pheochromocytoma was made. The differential diagnosis was thyrotoxicosis. She was commenced on antihypertensive medications while she was investigated. Results of investigations revealed a normal thyroid function test, an elevated serum cholesterol level (296 mg/dl) and a normal serum urea and electrolytes. An abdominal ultrasound scan revealed a left suprarenal mass displacing the left kidney postero-laterally, suggestive of a left adrenal mass. A computerized tomography scan of the abdomen revealed a rounded bi-lobed left suprarenal mass of mixed density (). The twenty-hour urine metanephrine estimations were markedly elevated. A diagnosis of pheochromocytoma was subsequently confirmed. She was commenced on Prazocin 0.5 mg p. o t.d.s and Atenolol 100 mg b.i.d. Nifedipine 20 mg b.i.d was subsequently added. The blood pressure was maintained at 120/80 mmHg. She subsequently had surgery for excision of the tumour using a transperitoneal approach. There was a transient episode of intraoperative hypotension for which she was commenced on dopamine infusion. Findings at surgery were
A well encapsulated left suprarenal mass with dilated veins draining into the left renal vein ().
A normal looking left adrenal gland superiorly adjacent to the mass.
A normal right adrenal gland.
The tumour was dissected out after ligating the blood supply and the veins. A separate cresenteric shaped mass was identified at the apex of the cavity this was also removed.
She was transferred to the Intensive care unit for monitoring. Her post-operative phase was uneventful. Anti-hypertensive medications were discontinued and she was discharged home on the ninth post-operative day with a blood pressure of 120/80 mmHg. She is being seen in the surgical out - patient clinic. She has remained free of symptoms. The histopathology report of the two resected specimens revealed a cresenteric shaped normal intact adrenal gland grossly and on histology. The mass () measured 8 × 6 × 4.5 cm in size and weighed 100 gm. The surface was lobulated with sparsely attached adipose tissue on its intact capsular surface. Cut surface revealed a bi lobulated yellowish brown surface. The histology showed a rim of atrophic cortical adrenal tissue and deep to this rim were nests and sheets of small to intermediated sized cells with moderate pleomorphic nuclei with occasional bizarre ones and with moderate amphophillic to eosinophillic cytoplasm (). The cells were arranged around delicate vasculature. The chief cells in the tumour were strongly positive for Neuron Specific Enolase, synaptophysin and Chromogranin A. The surrounding sustentacular network of cells stained positively for the S-100 protein. These findings are suggestive of a pheochromocytoma in an accessory adrenal gland.


A 47-year-old Caucasian man presented with a three-week history of progressive dyspnea, productive cough, and weight loss of 10 kg in the preceding 3 months. He suffered from several episodes of respiratory infection in preceding months that improved after antibiotic therapy. He smoked 16 packs per year.
Upon admission, physical examination showed an ill looking patient who was thin, pale, acyanotic and tachycardic. His blood pressure was 100/70 mmHg, his pulse 100 beats/min, and his respiratory rate was 26 breaths/min. There was no cervical, axillary, or inguinal lymphadenopathy. Lung auscultation revealed diffusely scattered crackles and rhonchi bilaterally. A physical examination of the heart and abdomen revealed no abnormal findings.
Laboratory tests showed the following blood analysis results: red blood cell count, 4.7 milion/mm3; hemoglobin, 11.1 g/dL; hematocrit, 34.8%; white blood cells, 4,300/mm3; and platelets, 200,000/mm3. Arterial blood gas analysis while breathing room air showed an arterial oxygen tension (PaO2) of 80 mmHg and an arterial carbon dioxide tension (PaCO2) of 32 mmHg. Blood analysis further revealed the following molecular concentrations: sodium, 136 mEq/L; potassium, 4.5 mEq/L; blood urea nitrogen, 26 mg/dL; and creatinine, 1.1 mg/dl. Liver function tests were normal. Serology for HIV and tests for acid-fast bacilli and fungi in three sputum samples were negative. Respiratory function tests demonstrated a moderate obstructive disease. Echocardiography revealed a normal ejection fraction with no myocardial or valvular abnormalities.
A chest radiograph () and computed tomography (CT) on the thorax () showed multiple pulmonary nodular opacities and masses of soft tissue density that had irregular contours, and were diffusely and bilaterally distributed. Most of the nodules and masses contained calcifications, but none were cavitated. Radiographs () and CT of the thorax () had been performed at another institution six years prior, showing nodular lesions with calcifications that were smaller than at present. Since he was asymptomatic at the time, he did not return for further examinations.
Bronchoscopy showed no abnormalities. A bronchoalveolar lavage was negative for tuberculosis, fungi or malignancy. An open lung biopsy was performed and histopathological analysis showed pulmonary amyloidosis. Three months later, the patient died from a respiratory infection.


A 68-year-old Caucasian lady presented with left sided upper abdominal pain and left renal angle pain to her GP. The GP ordered lumbar X-rays of the spine, which had shown a possible 7 cm renal stone (). The pain had been occurring for several months and there were no exacerbating or relieving factors. The pain did not radiate and was not severe. She had no lower urinary tract symptoms importantly no haematuria or dysuria. Other medical problems included rheumatoid arthritis, SLE and controlled hypertension. She had no previous urological or surgical history. She was referred to a urologist for an opinion.
Laboratory investigations showed a serum creatinine of 119 mg/dl and a urea of 8.1 mg/dl. Urinalysis was normal and her blood pressure was 140/80 mmHg. Her symptoms of back pain had subsided and on examination she had no loin pain. She was subsequently sent for a CT scan, which revealed that the substance of her left kidney had almost totally been replaced by a dense calcification. There was also calcification of the distal ureteric wall on the same side. Both of these findings are evident from the reconstructed CT image (). When she was subsequently reviewed again in clinic, it came to light that she had had TB in her chest at the age of 16. A diagnosis of TB “auto nephrectomy” was made. From the time of her original referral she had no further episodes of pain and it was felt that her symptoms had been due to musculoskeletal problems and not due to the TB kidney. A review of the present literature suggested that nephrectomy may be considered for patients that are hypertensive. Our patient had well controlled hypertension and after discussion with the patient it was not felt that nephrectomy was warranted. She was discharged back to her GP, with advice to monitor her blood pressure and renal function.


A 41-year-old Afro-Caribbean lady presented to A&E with a 72 hour history of sore red eyes, oral mucous ulceration, labial crusting, feverish arthralgia and widespread rash. She was normally fit and well, had no symptoms prior to the above, and normally worked as a retail assistant in a department store. She had no past medical history of note, took no regular medications or supplements, and had no recent travel abroad.
At presentation she was noticed to be febrile at 39°C, but otherwise haemodynamically stable. Examination revealed a pseudo-membranous conjunctivitis, extensive oral ulcerations and non-vesicular lip crusting with a muco-serous discharge. She had widespread ‘target lesions’ over her arms, legs and trunk, highly characteristic of erythema multiforme. Her urine analysis was normal, as was her chest x-ray and electrocardiogram. Her blood tests at presentation were largely normal, the only mild abnormalities being a slight lymphopoenia of 0.6 x 109/L and a C-reactive protein level of 15 mg/L, rising to 191 mg/L some 24 hours later. Swabs of eyes and mouth gave no microbial growth, and no viruses were isolated by PCR. Her screens for varicella zoster virus, human immunodeficiency virus, herpes simplex virus and anti-streptolysin O were negative, as were blood cultures. Mycloplasma antibody levels were at an insignificant titre. A full genito-urinary screen was also negative.
A clinical diagnosis of Stevens-Johnson Syndrome was made, and she was commenced on a week-long course of 30 mg daily of prenisolone, and treated supportively with intravenous crystalloids, antipyretics, benzydamine hydrochloride mouthwash and empirical topical chloramphenicol to the eyes. An urgent ophthalmology opinion was obtained, revealing no other ocular manifestations. She improved quickly over the next few days, and was discharged home within a week.
Retrospectively, the only unusual contact the patient could recollect was having used a new chemical hair relaxation treatment 3 days prior to the symptoms arising. She recalls noticing some scalp irritation commencing a few hours after the treatment, but dismissed the significance of this initially.
In the absence of any infective or medication related precipitant, it seems possible that this chemical hair treatment was the trigger for the Stevens-Johnson Syndrome in this lady.