1/221. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 1keywords = nerve, organ (Clic here for more details about this article) |
2/221. Pathological study on sibling autopsy cases of the late infantile form of neuronal ceroid lipofuscinosis.We report autopsy cases of two brothers with the late infantile form of neuronal ceroid lipofuscinosis (LINCL) and examine apoptotic cell death in autopsied brains. Both patients showed psychomotor developmental delay, cerebellar ataxia, convulsions, visual disturbance and myoclonus, and they became bedridden around the age of 6-7 years. Macular changes, mimicking cherry-red spots, were observed on funduscopy, but conjunctival biopsy failed to disclose storage materials. In these cases, the autopsies demonstrated severe atrophy with neuronal loss and gliosis throughout the brain and spinal cord, except the hypothalamic neurons and motor neurons in the brain-stem and spinal cord, and autofluorescent lipofuscin-like materials of two types, fine granular deposits and coarse round bodies, were stored in the remaining neurons and glial cells, and in the epithelial cells of various visceral organs. Immunostaining for mitochondrial subunit C visualized the fine granular deposits but not the coarse round bodies. The nuclei of neurons and glia cells were stained by in situ nick end labeling, which was more pronounced in the younger case, although the expression of both bcl-2 and bcl-x was not significantly altered in these cases. It is suggested that immunohistochemistry for subunit C may be useful for diagnosis of NCL, and further investigations are necessary to clarify the relationship between LINCL and apoptosis, especially in severely affected cases.- - - - - - - - - - ranking = 0.0053135593347112keywords = organ (Clic here for more details about this article) |
3/221. MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.MRI was performed in two siblings with the neuropathic sphingomyelinase deficiency caused by identical mixed heterozygosity in the structural acid sphingomyelinase gene. The clinical phenotype of the cases is unique in showing a rather protracted course, both having reached the fourth decade. Pronounced cerebellar and mild supratentorial atrophy was seen on MRI in both siblings, in contrast to their strikingly different clinical status. One has no overt neurological deficit, while the second had neocerebellar symptoms and signs, nystagmus and cranial nerve palsies for some years. The MRI findings, together with the cherry-red spot in the ocular fundus, ultrastructurally proved storage in cutaneous nerve schwann cells and the histopathologically proven brain neuronal storage in a third sibling who died after a relatively rapid course dominated by fatal visceral storage, is evidence that a remarkably restricted neuropathology can be caused by this enzymopathy.- - - - - - - - - - ranking = 0.49734322033264keywords = nerve (Clic here for more details about this article) |
4/221. 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.- - - - - - - - - - ranking = 1.4920296609979keywords = nerve (Clic here for more details about this article) |
5/221. cochlear nerve aplasia: its importance in cochlear implantation.OBJECTIVE: The objective of this study was to outline the possible implications and potentially valuable techniques for managing cases in which the neural integrity of the peripheral auditory system is in question. STUDY DESIGN: This study was a retrospective case review. SUBJECT AND METHOD: A 3-year-old child with a profound blilateral sensorineural hearing loss was assessed for suitability of cochlear implantation. Audiologic tests confirmed that the child met the audiologic criteria for cochlear implantation. Computed tomographic scanning and magnetic resonance imaging were undertaken. RESULTS: Computed tomographic scanning showed bilateral narrow internal auditory canals. magnetic resonance imaging showed the absence of the acousticofacial bundle on the left side and possible atrophy of the bundle on the right. After detailed discussion, the parents elected to proceed with implantation on the right ear using the Nucleus mini-22 cochlear implant. Tuning of the device resulted in myogenic facial activity with no electrically stimulated auditory sensation. Postoperative electrophysiologic testing confirmed the presence of a compound muscle action potential only. CONCLUSIONS: Seven months after implantation, the child was explanted uneventfully. The electrical auditory nerve action potential and the electrically evoked auditory brainstem response, using intracochlear stimulation, are potentially valuable measurements to assess neural integrity before the decision to proceed with implantation is made.- - - - - - - - - - ranking = 1.2433580508316keywords = nerve (Clic here for more details about this article) |
6/221. Prevention of human diaphragm atrophy with short periods of electrical stimulation.We determined whether prolonged complete inactivation of the human diaphragm results in atrophy and whether this could be prevented by brief periods of electrical phrenic nerve stimulation. We studied a subject with high spinal cord injury who required removal of his left phrenic nerve pacemaker (PNP) and the reinstitution of positive-pressure ventilation for 8 mo. During this time, the right phrenic nerve was stimulated 30 min per day. Thickness of each diaphragm (tdi) was determined by ultrasonography. Maximal tidal volume (VT) was measured during stimulation of each diaphragm separately. After left PNP reimplantation, VT and tdi were measured just before the resumption of electrical stimulation and serially for 33 wk. On the previously nonfunctioning side, there were substantial changes in VT (from 220 to 600 ml) and tdi (from 0.18 to 0.34 cm). On the side that had been stimulated, neither VT nor tdi changed appreciably (VT from 770 to 900 ml; tdi from 0.25 to 0.28 cm). We conclude that prolonged inactivation of the diaphragm causes atrophy which may be prevented by brief periods of daily phrenic nerve stimulation.- - - - - - - - - - ranking = 0.99468644066529keywords = nerve (Clic here for more details about this article) |
7/221. Fatal poisoning from liquid dimethylmercury: a neuropathologic study.Since ancient times, mercury has been recognized as a toxic substance. Dimethylmercury, a volatile liquid organic mercury compound, is used by a small number of chemistry laboratories as a reference material in nuclear magnetic resonance spectroscopy. To our knowledge, dimethylmercury has been reported in only three cases of human poisoning, each proving fatal. Very small amounts of this highly toxic chemical can result in devastating neurological damage and death. We report the neuropathologic findings in a fatal case of dimethylmercury intoxication occurring in a laboratory researcher that resulted from a small accidental spill. We compare these findings to those reported in one previously reported fatal case of dimethylmercury poisoning, and to earlier reports of monomethylmercury poisoning, and discuss the clinicopathologic correlation.- - - - - - - - - - ranking = 0.0053135593347112keywords = organ (Clic here for more details about this article) |
8/221. Evidence of widespread axonal pathology in wolfram syndrome.wolfram syndrome, characterised by diabetes insipidus, diabetes mellitus, optic atrophy sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown. We report the post-mortem findings on a patient with well-documented wolfram syndrome. The brain showed severe degeneration of the optic nerves, chiasm and tracts as well as severe loss of neurons from the lateral geniculate nuclei, basis pontis, and the hypothalamic paraventricular and supraoptic nuclei. In addition, there was a widespread axonal dystrophy with axonal swellings in the pontocerebellar tracts, the optic radiations, the hippocampal fornices and the deep cerebral white matter. This widespread axonal pathology parallels the pattern of neurodegeneration and in many areas is more striking than neuronal loss.- - - - - - - - - - ranking = 0.24867161016632keywords = nerve (Clic here for more details about this article) |
9/221. Congenital insensitivity to pain with anhidrosis: a case report.Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.- - - - - - - - - - ranking = 0.24867161016632keywords = nerve (Clic here for more details about this article) |
10/221. Idiopathic intracranial hypertension: a case report with optic nerve histopathology.We present the clinical and pathologic findings in an atypical case of idiopathic intracranial hypertension. A 51-year-old man had headaches, visual deterioration, papilloedema, and deafness. neuroimaging was normal, and cerebrospinal fluid pressure monitoring confirmed increased intracranial pressure. The patient was treated with a ventriculo-peritoneal shunt. Histopathology revealed grossly atrophic optic nerves with almost complete axonal loss. The prelaminar portion of the optic nerves was thickened by gliosis and hyalinized capillaries, which have not been described previously.- - - - - - - - - - ranking = 1.4920296609979keywords = nerve (Clic here for more details about this article) |
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