Solitary Neurofibroma Of The Spermatic Cord: A Case Report.

We report the ultrasound, computerized tomography, positron emission tomography and magnetic resonance imaging findings of a 38-year-old man with a biopsy proven solitary neurofibroma of the spermatic cord. Solitary neurofibromas of the male genital tract are exceedingly rare benign peripheral nerve sheath neoplasms composed of Schwann cells and fibroblasts. In contrast to schwannomas they are not bound by a capsule thus allowing infiltration between the nerve fascicles. Although they are benign lesions whose potential for malignant degeneration is very low, especially in the absence of neurofibromatosis type 1, accurate diagnosis is important as neurofibromas in this location can cause significant morbidity and psychological distress. Despite the extensive differential diagnosis of masses in the male inguinal canal, including both benign and malignant entities, a diagnosis of benign peripheral nerve sheath tumor can be potentially suggested based on imaging, particularly if MRI is performed. Surgical resection is the treatment of choice and the final diagnosis should be provided by histopathology, as was the case with this patient

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. RESULTS: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 ± 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2 T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869 C>T (p.Gln957Stop), c.5928 G>A (p.Trp1976Stop)). CONCLUSIONS: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2 T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c. 3031 + 2 T>C) suggested a possible founder effect

Fatal subarachnoid hemorrhage following ischemia in vertebrobasilar dolichoectasia.

Vertebrobasilar dolichoectasia (VBD) is a chronic disorder with various cerebrovascular and compressive manifestations, involving subarachnoid hemorrhage (SAH). Occurrence of SAH shortly after worsening of clinical VBD symptoms has occasionally been reported. The goal of the study was to examine this association, in particular its pathophysiology, clinical precursor signs, time course, and outcome.To this end, in a retrospective multicenter study, we analyzed 20 patients with VBD and SAH in regard to preceding clinical symptoms, presence of vertebrobasilar thrombosis and ischemia, outcome and neuropathological correlates.Median age of the 7 female and 13 male patients was 70 years (interquartile range [IQR] 18.3 years). Fourteen patients (70%) presented with new or acutely worsening posterior fossa signs at a median of 3 days prior to SAH (IQR 2, range 0.5-14). A thrombus within the VBD was detected in 12 patients (60%). Thrombus formation was associated with clinical deterioration (χ = 4.38, P = 0.04) and ponto-cerebellar ischemia (χ = 8.09, P = 0.005). During follow-up after SAH, 13 patients (65%) died, after a median survival time of 24 hours (IQR 66.2, range 2-264 hours), with a significant association between proven ponto-cerebellar ischemia and case fatality (χ = 6.24, P = 0.01).The data establish an association between clinical deterioration in patients with VBD, vertebrobasilar ischemia, and subsequent SAH. Antithrombotic treatment after deterioration appears controversial and SAH outcome is frequently fatal. Our data also indicate a short window of 3 days that may allow for evaluating interventional treatment, preferably within randomized trials

Detection of coronary thrombosis after multi-phase postmortem CT-angiography.

The aim of this study was to compare postmortem angiography-based, autopsy-based and histology-based diagnoses of acute coronary thrombosis in a series of medicolegal cases that underwent postmortem angiographies according to multiphase CT-angiography protocol. Our study included 150 medicolegal cases. All cases underwent native CT-scan, postmortem angiography, complete conventional autopsy and histological examination of the main organs and coronary arteries. In 10 out of the 150 investigated cases, postmortem angiographies revealed coronary arterial luminal filling defects and the absence of collateral vessels, suggesting acute coronary thromboses. Radiological findings were confirmed by autopsy and histological examinations in all cases. In 40 out of 150 cases, angiograms revealed complete or incomplete coronary arterial luminal filling defects and the presence of collateral vessels. Histological examinations did not reveal free-floating or non-adherent thrombi in the coronary arteries in any of these cases. Though postmortem angiography examination has not been well-established for the diagnosis of acute coronary thrombosis, luminal filling defects in coronary arteries suggesting acute thromboses can be observed through angiography and subsequently confirmed by autopsy and histological examinations

Sudden cardiac death and sarcoidosis of the heart in a young patient.

Sarcoidosis is a granulomatous disease of unknown etiology affecting any organ, microscopically characterized by noncaseating granulomata. Cardiac involvement in sarcoidosis has been reported. It might be symptomatic or not and even revealed by sudden death. Heart conduction system is rarely investigated at autopsy, even in cases of sudden cardiac death. We present a case of a 32-year-old woman who died suddenly. The examination of the heart conduction system revealed a cardiac sarcoidosis that could explain the sudden death. The review of clinical data of the patient revealed some symptoms consistent/in agreement with this hypothesis. Cardiac sarcoidosis remains a diagnostic challenge and can be easily missed, clinically and pathologically. The retrospective analysis of clinical data and autopsy results of fatal and unusual cases might help to better understand sarcoidosis and its clinical presentations. Examination of the cardiac conduction system is crucial in selected cases of sudden cardiac death

Périartérite noueuse et hépatite C: association fortuite [Periarteritis nodosa and hepatitis C: a fortuitous association?]

Polyarteritis nodosa is a vasculitis of unknown origin which can be rarely associated with hepatitis B. A exceptional clinical situation of a polyarteritis nodosa associated with hepatitis C is described. This case is also the occasion to review the clinical manifestations, the diagnostic strategy und the therapeutic options of this rare vasculitis

Fatal Cervical Spine Injury From Diving Accident.

Spinal cord injuries result after diving into shallow water, often after incautious jumps head first into water of unknown depth during recreational or sport activities. Mortality is generally due to upper cervical trauma. The authors present a case of a diving-related death in a young woman who underwent medicolegal investigations. The measured water depth at the supposed dive site was 1.40 m. Postmortem radiology and autopsy revealed fractures of the body and the posterior arch of the fifth cervical vertebra, a fracture of the right transverse process of the sixth cervical vertebra and hemorrhages involving the cervical paraspinal muscles. Neuropathology showed a posterior epidural hematoma involving the whole cervical region and a symmetric laceration of the spinal cord located at the fourth and fifth cervical vertebra level, surrounded by multiple petechial hemorrhages. Toxicology revealed the presence of ethanol in both blood and urine samples. The death was attributed to cervical spine fracture (C5-C6), spinal cord contusion, and subsequent drowning. This case highlights the usefulness of postmortem radiology, examination of the deep structures of the neck, toxicology, neuropathology, and a detailed research of signs of drowning to formulate appropriate hypotheses pertaining to the cause and mechanism of death

Leg pain due to bilateral focal recurrent myositis in a hemodialysis patient.

Leg pain is a common symptom in dialysis patients. In most cases, the cause is easily identified, but some rare causes have been recognized. We describe a case of focal myositis as the source of recurrent leg pain in a hemodialysis patient. This disease usually is self-limited and has a spontaneously favorable outcome. We review the differential diagnosis of leg pain in this patient population