Lewy body dysphagia

The presence of Lewy bodies (LB) in autonomic structures of the central and peripheral nervous system in Parkinson's disease (PD) is well known and could explain clinical signs of pure autonomic failure (PAF) or dysphagia, frequently associated with the disorder. There are many neuropathological reports in the literature with detailed descriptions of PAF, however, LB dysphagia has thus far only been reported once. In the present study, we describe two cases of isolated dysphagia without extrapyramidal syndrome, diagnosed clinically as progressive supranuclear palsy and amyotrophic lateral sclerosis, where detailed neuropathological examination identified LBs in the dorsal vagal motor nuclei in the medulla. These findings confirm the existence of isolated LB dysphagia and emphasize the importance of detailed neuropathological and immunohistochemical examination in cases of dysphagi

Primary pulmonary malignant meningioma with lymph node and liver metastasis in a centenary woman, an autopsy case

Primary meningiomas arising outside the central nervous system are very rare. They have been reported in the head and neck region, in the thorax, the retroperitoneum, and the pelvis. Usually, they behave as slow-growing tumors with a good prognosis. Herein, we report an autopsy case of a 108-year-old woman, known for a right-sided slowly growing lung nodule for 39years. Death was attributed to cachexia. At post-mortem, a 15-cm mass was present in the right inferior lobe of the lung, associated with an ipsilateral hilar lymphadenopathy, and another 10-cm mass in the liver. Histology revealed a WHO grade III meningioma. No tumor was observed in the cranial cavity. This case illustrates a rare location of meningioma and highlights its biological behavior, with a very slow progression from a most probably benign tumor to a malignant lesion with metastasis over four decade

MRI neurography and diffusion tensor imaging of a sciatic perineuroma in a child

Perineuroma, rare in children, presents as a painless mononeuropathy of a major nerve trunk. Resection of the lesion with end-to-end sural nerve grafting appears to be the treatment of choice. This technique is not recommended if the unhealthy segment of nerve is too long or if spinal roots are involved. However, in children, reports of direct MR evaluation of nerve trunks and of the exiting nerve roots are limited. We report a 7-year-old girl with an intramural sciatic nerve perineuroma in whom the diagnosis was made by MRI and confirmed by biopsy. The MR protocol combining 3-D T2-W STIR SPACE, fat-saturated gadolinium-enhanced T1-W images, and diffusion tensor imaging with tractography was a valuable tool for depicting peripheral nerve and roots in order to plan surgical treatmen

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

A 64-Year-Old Woman with Chest Pain, Limb Weakness, and Endometrial Cancer

Necrotizing autoimmune myopathy (NAM) is a rare subgroup of idiopathic inflammatory myopathies (IIM). This pathology usually affects proximal limb muscles and in some cases the myocardium. Patients usually display proximal limb weakness. Muscular biopsy is required to confirm the diagnosis. We report the case of a 64-year-old woman with an atypical first presentation of NAM, manifested by chest pain in the context of metastatic endometrial cancer. The diagnosis of NAM was however made when she returned a second time with proximal limb weakness. A treatment with prednisone was then initiated, to which rituximab was rapidly associated, beside a specific chemotherapy

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

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