1/27. 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 = atrophy, muscle (Clic here for more details about this article) |
2/27. Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.We describe three sibling patients with autosomal dominantly inherited sensory neuropathy, sensorineural hearing loss and dementia. The features of cognitive-behavioral deficits in the patients, including executive dysfunction, apathy, indifference and inattention, were consistent with a frontal lobe dysfunction. magnetic resonance imaging showed a diffuse brain atrophy. A fluorodeoxyglucose positron emission tomography in one patient and a single photon emission computed tomography in another demonstrated a glucose hypometabolism or a hypoperfusion in the medial frontal and thalamic regions. Primary frontal involvement or frontal dysfunction secondary to thalamic lesions may contribute to the nature of dementia in these patients.- - - - - - - - - - ranking = 0.98527180510042keywords = atrophy (Clic here for more details about this article) |
3/27. Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review.We present two siblings affected by hereditary motor and sensory type II neuropathy (HMSN-II) with neuromyotonia, and associated with muscle hypertrophy of the thighs and calves in one. We review the literature about the association between HMSN-II, neuromyotonia and muscle hypertrophy. Muscle enlargement in HMSN-II is rare and may be sporadic or under genetic control. In our patient, muscle hypertrophy was sporadic and probably due to neuromyotonia. The relationship between muscle hypertrophy and neuromyotonia can be deduced by the fact that both conditions were reduced after diphenylhydantoin treatment (200 mg/day).- - - - - - - - - - ranking = 0.11782555919663keywords = muscle (Clic here for more details about this article) |
4/27. Congenital sensory neuropathy. Ophthalmological implications.The authors examined a patient presenting with congenital sensory neuropathy with selective loss of small myelinated nerve fibres. The appearance of (bilaterial) keratitis or corneal ulceration in early childhood is strongly suggestive of congenital corneal anaesthesia. Concomitant symptoms such as anisocoria, abnormal pupillary reaction, diminished tear production and disturbed sensibility to pain and temperature point to a generalized disease: one of the hereditary sensory and autonomic neuropathies. In order to establish a definite diagnosis, elaborate neurological examination, including ultrastructural study of a muscle-nerve biopsy, is required. Tarsorrhaphy, therapeutic flushfitting PMMA scleral lenses and hydrophilic HEMA contact lenses are advocated, in order to protect the cornea. The results with high-water-content hydrophilic contact lenses are promising, those of keratoplasty limited.- - - - - - - - - - ranking = 0.014728194899579keywords = muscle (Clic here for more details about this article) |
5/27. Is there involvement of the central nervous system in hereditary sensory radicular neuropathy?There is pathological evidence that hereditary sensory radicular neuropathy (HSN type I) is a disorder related to multi-system atrophy with marked cell loss in the cerebral cortex, thalamus, brain stem and cerebellum. We report here a clinical study of a case of HSN-I including audiometric testing, autonomic functions, electromyography, transcranial magnetic stimulation and magnetic resonance imaging of the brain. There were no signs of central nervous system involvement. It is stated that HSN-I remains a disorder of dorsal root ganglia and sensory nerves, leading to painless perforating ulceration and mutilation, within the course of the disease peripheral motor nerve involvement, but without involvement of central motor pathways.- - - - - - - - - - ranking = 0.98527180510042keywords = atrophy (Clic here for more details about this article) |
6/27. The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.We report on a 10-year-old girl with anhidrosis and insensibility to pain, but no severe mental retardation or self-mutilation, diagnosed as hereditary sensory and autonomic neuropathy type IV (HSAN IV). Genetic analysis of her TRKA gene, which is responsible for HSAN IV, revealed two novel missense mutations in the tyrosine kinase domain. Cardiovascular autonomic nervous system function tests showed normal muscle sympathetic nerve activity associated with arterial baroreflex, reduced skin sympathetic nerve activity in the second and fifth fingers and palms, and abnormal circadian rhythm of cardiovascular autonomic nervous system. These findings have never before been reported in HSAN IV and may provide a clue to the neurological pathophysiology of this disease.- - - - - - - - - - ranking = 0.014728194899579keywords = muscle (Clic here for more details about this article) |
7/27. Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature.Peroneal muscular atrophy (PMA) associated with hereditary spastic paraparesis (HSP) is a nosologically ill-defined disease, which has been classified by Dyck as hereditary motor and sensory neuropathy type V (HMSN V). Nerve biopsy has been rarely reported in this condition. We examined sural nerve biopsies in four patients, demonstrating the following: severe myelinated fiber loss especially of large fibers, with moderate (one case) or prominent (one case) onion bulb formation; selective decrease of large fibers with moderate Schwann cell hyperplasia (one case); normal myelinated fiber population with minimal changes (one case). After reviewing previously reported cases we, conclude that in PMA with HSP sural nerve biopsy may show features either of hypertrophic type of PMA, of neuronal type, or of spinal type; thus, it seems inappropriate to allocate PMA with HSP in a unique subtype of HMSN. In addition, HSP may be not associated with peripheral neuropathy, and thus the classification in the HMSN group may be incongruous. A proper classification of PMA with HSP may be in the "complicated" forms of HSP according to Harding [Lancet I: 1151-1155 (1983)]; however, the nosology of this condition needs to be further elucidated, possibly on the basis of the underlying molecular genetic mechanisms of HSP and PMA.- - - - - - - - - - ranking = 273.88789964354keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
8/27. Use of BIS monitor in a child with congenital insensitivity to pain with anhidrosis.We describe a case of a 14-year-old boy with congenital insensitivity to pain and anhidrosis (CIPA) who underwent tarsal tunnel release for tarsal tunnel syndrome. Because of abnormal pain perception, the patient's response to normally painful surgical stimuli is severely impaired and not adequately reflected in a corresponding rise in blood pressure or heart rate. This lack of autonomic feedback to pain stimuli may make it more difficult to assess whether anesthetic depth is adequate to prevent intraoperative awareness and thus to safely conduct anesthesia, especially if muscle paralysis is required for surgical indications. We describe for the first time the use of processed EEG monitoring with a BIS A-2000 monitor to gauge anesthetic depth in a patient with CIPA. Initial forehead bispectral index (BIS) values prior to induction were normal (98) and then ranged between 23 and 79 during the whole surgical procedure. propofol and lidocaine were used for induction and deep extubation; isoflurane was used as the sole anesthetic for maintenance with concentrations ranging from 0.21% to 0.92% to maintain a target BIS of 40-60. Volatile anesthetic requirements remained low throughout the procedure and no narcotics were necessary during surgery. The BIS monitor served as an adequate tool to help avoid excessive use of volatile anesthetic while assuring a processed EEG consistent with unconsciousness and amnesia. After the patient had recovered and was oriented to place and time in the recovery room, he was asked whether he remembered anything about the surgery and the presence of a breathing tube in his mouth. He denied any recall of such events.- - - - - - - - - - ranking = 0.014728194899579keywords = muscle (Clic here for more details about this article) |
9/27. Hereditary sensory neuropathy type II without trophic changes.Three cases with sensory peripheral neuropathies are reported. Case 1 presented with scoliosis, and cases 2 and 3 presented with abnormal gait. None had trophic limb changes, evidence of weakness, or a tendency to self-mutilation and each had normal motor studies on neurophysiological testing. sural nerve biopsies showed a severe loss of myelinated fibres and case 3 had evidence of denervation on muscle biopsy. These cases are presented as examples of hereditary sensory neuropathy type II. They are unusual in that they do not have trophic changes.- - - - - - - - - - ranking = 0.014728194899579keywords = muscle (Clic here for more details about this article) |
10/27. Hereditary sensory neuropathy with deafness: a familial multisystem atrophy.We report a 39-year-old woman with hereditary sensory neuropathy-type I (HSN-I) and deafness--Hicks' disease. The cochlea showed cell loss in the organ of corti, and spiral ganglia and atrophy of acoustic nerves. Morphometric and quantitative studies of the ventral cochlear nucleus disclosed mild changes resulting from transynaptic atrophy. There was, however, neuronal as well as severe dendritic loss and gliosis in the auditory and sensory cortex that could not have been caused by their functional deprivation or have resulted from a chain reaction of transynaptic atrophy, since their corresponding lower relay nuclei did not display significant atrophy. The finding of cell loss and gliosis in the thalamus in nuclei that do not subserve these two pathways as well as in the red nuclei, inferiro olivary nuclei, and claustrum suggested that HSN-I with deafness is nosologically related to familial multisystem atrophy.- - - - - - - - - - ranking = 8.8674462459038keywords = atrophy (Clic here for more details about this article) |
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