1/11. Axonal degeneration of peripheral facial nerve in a patient with progressive hemifacial atrophy. We report a case of a 23-year-old woman with progressive hemifacial atrophy. She showed an atrophic change on the left side of her face for 8 years. A skin biopsy obtained from the lesion revealed the fibrotic changes in the deep dermis and adipose tissue with infiltrations of lymphocytes and plasma cells. She underwent the augmentation using a deepithelialized anteromedial thigh flap with endoscopic assistance. A specimen of the peripheral facial nerve taken from the region adjacent to the skin lesion during the operation showed atrophy of neurofibers with vacuole degeneration. On an electron microscopic examination, a high degree of degeneration of myelinated and unmyelinated axons was observed. These findings may provide direct evidence that atrophic changes of nerve fibers are closely related with the pathology of this disease. ( info) |
2/11. Lesions of the inferior alveolar nerve arising from endodontic treatment. A lesion of the IAN following endodontic treatment of the lower molars and premolars is not a rare event and presents an uncomfortable situation both for the dental surgeon and the patient. Injury can result on the one hand by direct intrusion of the instrument through the apex into the mandibular canal, and on the other by the filling material which becomes forced into the mandibular canal. In the latter case, a nerve lesion will only result when the filling material contains neurotoxic substances such as paraformaldehyde. With a direct lesion or when forcing of resorbable filling material into the mandibular canal is suspected, one should first employ a wait-and-see approach, because usually the only nerve damage is in the form of neuropraxy or axonotmesis for which there is a high rate of spontaneous regeneration. However, if neurotoxic filling material is introduced into the direct vicinity of the nerves, the mandibular canal should be opened and the filling material should be removed as early as possible. If the filling material is forced directly within the endoneurium between the nerve bundles, the damaged nerve sections must be resected and bridged using transplants from the sural or greater auricular nerves. ( info) |
3/11. Histological findings after hemicerebellectomy in man: anterograde, retrograde and transneuronal degeneration. Histological changes are described in the brain of a patient in whom a hemicerebellectomy had been performed 14 years before death. There is cell and fibre loss, partial or total, in nuclei known to have direct connections with the cerebellum. In some nuclei the sequel to cell loss is marked fibrillary gliosis. In other nuclei the cells have disappeared without trace. The degeneration of these tracts with a direct connection with the cerebellum has also led to degeneration of other tracts in synaptic relationship with them. This transneuronal degeneration has occurred in the corticopontine tracts and in the central tegmental tract, in the former definitely, and in the latter probably, retrogradely. It is probable that transneuronal degeneration has also occurred in other tracts. The extent of the degeneration and, in particular, the occurrence of overt transneuronal degeneration, suggest that the examination of material after a very long term of survival might be of value in experimental work concerned with mapping neuroanatomical networks. ( info) |
4/11. 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. ( info) |
5/11. Giant axonal degeneration: determination of essential glycolytic enzymes. Aggregation and accumulation of intermediate filaments (IF) in different cell types is an ultrastructural hallmark of autosomal recessively inherited giant axonal degeneration (GAD) as well as of experimentally induced or occupationally acquired toxic polyneuropathies. Insufficient glycolysis caused by glycolytic enzyme deficiencies has been proposed as a likely cause of the IF accumulation. In this report data are presented on essential glycolytic enzymes in erythrocytes of a GAD patient and family. No significant changes were noted. ( info) |
6/11. 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. ( info) |
7/11. 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. ( info) |
8/11. Retrograde pyramidal tract degeneration in a patient with cervical haematomyelia. Retrograde pyramidal tract degeneration has been described only very rarely in the human central nervous system. In most of these cases the thoracic or cervical corticospinal tracts were shown to have degenerated following long-standing, lower spinal cord lesions. In a 67 year old man, who lived 2 years following the rupture of a mid-cervical cavernous angioma, we observed such degeneration which reached as high as the pons. This axonal dissolution was much less manifest above the ponto-medullary junction. Large pyramidal cells of Betz were not identified in the precentral gyrus, suggesting that the parental soma of the damaged axons had undergone atrophic changes. Furthermore, the involvement of the so-called aberrant pyramidal tract in the pontine medial lemniscus indicated that retrograde degeneration had occurred there as well. ( info) |
9/11. Long term post-traumatic retrograde corticospinal degeneration in man. The spinal cord and brain of a man who died 18 years after a crush injury of lumbar segments contained some unusual lesions. There was a reduced number of myelinated axons in the corticospinal tracts as high as the fifth cervical segment. Such retrograde degeneration has been described in human pyramidal tracts only a few times. The results of reported studies of experimental retrograde degeneration have been inconsistent. The course of the fasciculus gracilis, as delineated by gliosis, was atypical, and an unusual glial nodule, possibly neoplastic, was present in the dorsal columns at C8. ( info) |
10/11. 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. ( info) |