Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of Sturge-Weber-Krabbe's syndrome with unusual symptomatology are described. In the first case 13 years old boy the naevus flammeus was missing. A convulsive fit at the age of 2 1/2 years led to the correct diagnosis from the very characteristic radiological findings. At 13 years, intracortical calcifications were bulky and diffuse, and associated with optic nerve hypoplasia and anomalies of ocular motricity, their relation with the syndrome being difficult to establish. In the second patient (aged 17) the naevus flammeus was extensive, with numerous naevi on the whole body, and was associated with a retinal vascular malformation and glaucoma. A choroidal angioma was not observed. In these two patients the disease was isolated, without familial character, and there were no other neurological symptoms such as a pathological EEG. No evidence of mental retardation was noted.
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PMID:[Sturge-Weber-Krabbe syndrome with unusual symptomatology (author's transl)]. 728 82

A 31-year-old woman, a child of consanguineous parents, who had shown mental retardation and slowness in running ability since childhood, complained of progressive spastic gait for one and a half years prior to admission. On admission, neurological examination revealed severe spastic paraplegia, mental retardation, visual disturbance, cerebellar ataxia, disturbance of deep sensation, sphincter disturbance, pes cavus and pes equinovarus. Protein content in the cerebrospinal fluid was increased to 86.1 mg/dl. Markedly reduced activity of galactosylceramidase in the leukocytes and the cultured fibroblasts confirmed the diagnosis of Krabbe's disease. T2-weighted MR images disclosed high signal areas in the deep white matter of the bilateral parieto-occipital lobes. There were also abnormal high signal bands along the bilateral pyramidal tracts from the corona radiata to the cerebral peduncle and the posterior part of the corpus callosum. The nerve conduction studies showed markedly decreased motor and sensory conduction velocities with decreased amplitudes. Visual evoked potentials showed prolongation of the right P100 latency. Auditory brainstem responses showed prolonged interpeak latencies between I-V peaks. Somatosensory evoked potentials showed prolongation of the N20 latencies. The morphometric histopathological analysis of the sural nerve revealed a decrease in the density of myelinated fibers and the presence of myelinated fibers with thin myelin sheath relative to the size of transverse area of axon. There were linear inclusion bodies in the cytoplasm of Schwann cells on electron microscopic examination. This is the first report in Japan of a patient with Krabbe's disease who survived after adolescence.
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PMID:[An adult patient with Krabbe's disease--the first case reported in Japan]. 812 80

Autosomal dominant, autosomal recessive and X-linked recessive varieties of spastic paraplegia have been recognized. Recently, Japanese patients with complicated form of autosomal recessive hereditary spastic paraplegia (HSP) associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. We describe a patient with complicated HSP (Iwabuchi type) and cataracta. A 38-year-old man (his parents were a second cousin) was born uneventfully. His motor development was normal. Motor and mental dysfunctions were noticed during the lower classes of an elementary school. He could ride a bicycle at 18 years old but gradually developed galt disturbance and confined to wheelchair since 35 years. He was admitted to our hospital on February 25, 1994. A neurological examination showed mental retardation, dementia, cataracta, cerebellar ataxia, rigidity, spasticity, severe atrophy of the distal muscles of his extremities, paraparesis, hyperreflexia, positive Hoffmann reflexes and Babinski signs, pes cavus and hammer toes. Brain MRI showed thinning of corpus callosum. Clinical and laboratory findings did not support a diagnosis of metabolic disorders showing spastic paraparesis including adrenomyeloneuropathy, Globoid leukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, Arginase deficiency. We considered that our patient was complicated form of HSP (Iwabuchi et al). However, cataract has not been found in Iwabuchi type of HSP. We discussed here other reports showing cataracta with spastic paraparesis.
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PMID:[A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta]. 877 6