Journal of the neurological sciences
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Myotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Protein Kinase (DMPK) gene was confirmed in combination with a duplication in the Charcot-Marie-Tooth Disease (CMT1A) gene. DM1 was also determined in her 25-year-old son.
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In an axonal variant of Guillain-Barré syndrome (GBS) associated with Campylobacter jejuni (C. jejuni) enteritis, the mechanism underlying axonal damage is obscure. We purified and characterized a DNA-binding protein from starved cells derived from C. jejuni (C-Dps). This C-Dps protein has significant homology with Helicobacter pylori neutrophil-activating protein (HP-NAP), which is chemotactic for human neutrophils through binding to sulfatide. ⋯ Finally, when C-Dps was intrathecally infused into rats, it was deposited in a scattered pattern in the cauda equina, especially in the outer part of the myelin sheath and the nodal region. In C-Dps-infused rats, but not in BSA-infused ones, a decrease in the number of sodium channels, vesiculation of the myelin sheath, axonal degeneration and infiltration of Iba-1-positive macrophages were observed. Thus, we consider that C-Dps damages myelinated nerve fibers, possibly through interference with paranodal sulfatide function, and may contribute to the axonal pathology seen in C. jejuni-related GBS.
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Vitamin B12 deficiency is an important nutritional disorder causing neurological manifestations of myelopathy, neuropathy and dementia. Sub-acute combined degeneration (SCD) with involvement of the posterior columns in the cervical and thoracic cord is a common presentation of this disorder. In this case report, we describe a 43 year old woman with pernicious anemia and myelopathy with atypical clinical features. ⋯ She had severe autonomic disturbances including an episode of unexplained bronchospasm, which has not been previously reported as a manifestation of vitamin B12 deficiency. We review the literature regarding these rarely reported features of vitamin B12 deficiency, and discuss aspects of management of this reversible condition. We emphasize the importance of awareness of autonomic disturbances in B12 deficient individuals.
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Primary leptomeningeal oligodendroglioma occurs very rarely and in only one patient a deletion of chromosome 1p has been reported. We describe a 60-year-old man with a prior history of an epileptic seizure three years earlier, who was referred because of depression and a rapid evolving cognitive impairment. Brain MRI showed a diffuse right parieto-occipital subarachnoid enhancing lesion without intra-axial extension. ⋯ To our knowledge this is the first report of a patient with a primary leptomeningeal anaplastic oligodendroglioma with diffuse spinal seeding bearing a 1p36/19q13 deletion. Our patient achieved a durable clinical and radiological remission following TMZ treatment. Molecular analysis with determination of chromosome 1p/19q deletions should be performed in all cases of leptomeningeal gliomas to select those patients who might benefit from TMZ chemotherapy.
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Some patients with brain arteriovenous malformation (BAVM) present with focal neurological deficits (FNDs) unrelated to clinically discernable seizure activity or hemorrhage. The aim of this study is to determine demographic and morphological AVM characteristics associated with FNDs. ⋯ Focal neurologic deficits unrelated to seizures or hemorrhage are a rare initial presentation of BAVMs. The predominance of FNDs among brainstem and deeply located BAVMs and the lack of a significant association of BAVM size with FNDs indicate selective white matter pathway-specific vulnerability, the association with patient age a time dependent effect. The higher frequency of FNDs among women suggests gender-specificity of brain tissue vulnerability.