1/4. The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case.The giant axonal neuropathy (GAN) is morphologically characterized by axonal swellings and accumulations of neurofilaments in giant axons and other cell types. Curly hair is not a constant finding. The clinical course is progressive and mostly starts in early childhood. We report the case of a boy aged 6 years at the time of sural nerve and muscle biopsy. Suralis nerve showed a reduced numerical density of myelinated fibres with a consecutive endoneural fibrosis. Morphometric investigation revealed a pronounced reduction of fibres measuring 8-12 microm in diameter. Giant axons were seen in relatively low number and were not very large with a maximum diameter of 18 microm. They had a relatively thin myelin sheet proved also by the high G ratio in the histogram. Many onion bulb formations of schwann cells were present. There are only few reports of giant axons with such low maximum diameter in cases with GAN, the lowest maximum diameters being reported in case reports on Japanese children. Up to now, this is the first report of a non-Japanese patient with a low maximum diameter of giant axons of less than 20 microm in peripheral nerve biopsy. Ultrastructurally, typical accumulations of neurofilaments and osmiophilic aggregates were found in giant axons. Other diagnoses with occurrence of giant axons could be excluded in view of the absence of specific findings. Sporadic or familial cases with giant axons are discussed. Sceletal muscle biopsy (M. quadriceps femoris) showed neurogenic affection with presence of small angulated atrophic muscle fibres.- - - - - - - - - - ranking = 1keywords = neuropathy (Clic here for more details about this article) |
2/4. mycoplasma pneumoniae causing nervous system lesion and SIADH in the absence of pneumonia.A patient was admitted for fever and acute respiratory failure (ARF), rapidly progressive tetraparesis, delirium, behavioral abnormalities, and diplopia. leukocytosis and a rise in c-reactive protein were present. A syndrome of inappropriate anti-diuretic hormone secretion (SIADH) was also diagnosed. Lumbar puncture yielded colorless CFS with mononuclear pleocytosis and protein rise. electrodiagnosis revealed demyelinating polyneuropathy and axonal degeneration. serum IgG and IgM for mycoplasma pneumoniae (MP) was consistent with acute infection, and erythromycin was started with rapid resolution of symptoms. Contrarily to most reports, an associated respiratory disease was not present and SIADH in association with MP has been reported only once, in a patient without direct central nervous system (CNS) involvement. Differential diagnosis and possible pathogenic mechanisms are discussed.- - - - - - - - - - ranking = 0.2keywords = neuropathy (Clic here for more details about this article) |
3/4. Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training.Hereditary neuropathy with liability to pressure palsy (HNPP) is characterised by recurrent mononeuropathies following minor trauma. We describe a case of fulminant HNPP beginning on the first day of military physical training. Protracted weakness, muscle atrophy, hand contractures, and multifocal sensory loss developed during a further three weeks of basic training. Nerve conduction changes were typical of HNPP, but without segmental slowing. Electromyographically, there was prominent acute denervation in muscles of the hands and right shoulder. sural nerve biopsy demonstrated tomaculae and remyelination. genetic testing revealed PMP-22 gene deletion. This case report demonstrates that HNPP can present with rapidly progressive peripheral nerve dysfunction and electrophysiological evidence of focal axonal loss.- - - - - - - - - - ranking = 1keywords = neuropathy (Clic here for more details about this article) |
4/4. Progressive systemic sclerosis associated with multiple mononeuropathy.BACKGROUND: Progressive systemic sclerosis (PSS) is a chronic connective tissue inflammatory disease which commonly attacks the skin and the visceral organs, but rarely the peripheral nervous system. OBJECTIVE: The aim of this study was to investigate PSS accompanied by peripheral neuropathy clinically, electrophysiologically and pathologically from a sural nerve biopsy. methods: Two women suffering from PSS but without any other collagen disease were studied. Both patients developed peripheral neuropathy with multiple mononeuropathy of the limbs, and in one woman, in the trunk as well. RESULTS: A biopsy of the sural nerve revealed axonal and myelin segmental degeneration, loss of large myelinated fibers and an increase of collagen fibers, but there was no evidence of vasculitis. An electron microscopic examination revealed degenerated axons, disrupted myelin sheaths and multilayered basal lamina in the capillaries. CONCLUSION: Mononeuropathy in PSS suggests that ischemic neuropathy may be related to the immune-mediated vasculopathy.- - - - - - - - - - ranking = 1.8keywords = neuropathy (Clic here for more details about this article) |