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)

The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane-bound, electron-lucent vacuoles and some electron-dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low-sulfated chondroitin-4-sulfate; chondroitin-6-sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.
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PMID:Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome. 608 20

A one-year-old male with seizures and developmental delay was found to have a ring 14 chromosome without a major band deletion. This brings the number of documented r(14) cases to seven. These patients have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. This combination suggests that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.
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PMID:Ring 14 chromosome: association with seizures. 617 Feb 24

The results of neuroradiologic studies of 71 children with infantile spasms treated with ACTH were correlated with the developmental outcome at follow-up (mean 62 months, range 14 to 207 months). Fifty-two (73%) patients had an abnormal NRS on initial evaluation; 49% had cerebral atrophy, 18% had congenital anomalies, and 6% had hydrocephalus. Twenty patients were normal on initial clinical evaluation. At follow-up only the eight (40%) with normal NRS were normal. Twelve (60%) who had unexpected abnormalities on NRS were retarded at follow-up. CAT scanning is necessary to predict the developmental outcome in developmentally normal children with infantile spasm. Eight of nine patients with normal NRS in the early treatment group were developmentally normal at presentation and follow-up. Ten patients who were developmentally normal before spasms began, and had normal NRS but were in the late treatment group, were retarded at initial evaluation and follow-up. This finding suggests that early treatment of children who have a normal NRS and normal development at onset of spasm prevents mental retardation.
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PMID:The value of neuroradiology in infantile spasms. 627 22

A MEMR syndrome occurred in a 9-year-old boy with cerebral atrophy and was established by computed tomography scans of the cranium. The patient had mental retardation, delayed speech development and microcephaly, and high levels of urinary dermatan sulfate and heparin sulfate, which are characteristics of this inborn error of mucopolysaccharide metabolism.
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PMID:Multiple exostoses--mental retardation (MEMR) syndrome: report of a case. 696 47

To confirm and extend previous observations concerning the correlation between cell-mediated immunity and psychiatric diseases, 511 patients with schizophrenia, cerebral atrophy, dementia, and mental retardation, and 32 control subjects and 27 control patients were skin-tested with human brain S-100 protein and human liver protein: 70.2-93.1% of tested psychiatric patients developed positive skin hypersensitivity reactions to S-100 protein, while 2.8-20.7% of patients reacted to liver protein. Of control subjects, 6.2-7.4% responded to S-100 protein, and 7.4-9.4% to liver protein. The findings indicate that cell-mediated immune processes may be involved in brain mechanisms underlying cerebral atrophy, depression, dementia, schizophrenia, and mental retardation.
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PMID:Delayed skin hypersensitivity reactions to human brain S-100 protein in psychiatric patients. 710 20

Darier's disease is determined by an autosomal dominant gene and is clinically characterized by confluent hyperkarotic papules. Mental retardation may appear in up to 10-20% of patients. Convulsions, spinocerebellar tract degeneration, polyneuropathy, psychiatric disorders and cerebral atrophy occur with a low and as yet not precisely determined incidence. In the medical literature reviewed only two previous cases of cerebral atrophy associated with Darier's disease were found. This study describes six members of a family affected with an unusually high incidence of neurologic manifestations. The mother and her five sons showed skin lesions, which, on histological examination, revealed the characteristic pathological changes of Darier's disease. Two of the five siblings with convulsions and mental retardation underwent computed tomography of the brain and both patients revealed the classic findings in atrophy; moderate enlargement of the lateral ventricles and widening of the cortical sulci. Cerebral atrophy was correlated with mental retardation and convulsions.
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PMID:[Mental retardation convulsions and cerebral atrophy; main neurological changes in Darier's disease]. 739 29

A 33-year-man with an encephalopathy of unknown aetiology, had an history of epilepsia for 30 years. Different types of seizures were seen, including grand mal and frontal attacks. Epilepsia was associated with mental retardation and behavioral disorders. At the age of 33, he was admitted for repetitive general convulsions. Epilepticus status lasted for two weeks and improved with vigabatrin et clonazepam. General seizures, frontal motor convulsions with arms and trunk antepulsion, and dacrystic attacks were seen. The latter seemed to be like normal crying because they were accompanied by lacrimation, contorted and mournful facies, and sobbing sounds. One year later, repetitive cardiac arrests occurred during a new epilepticus status. Cardiac arrests, observed on ECG holter lasted 10 to 24 seconds, without cardiac dysfunction. EEG patterns on ECG holter lasted 10 to 24 seconds, without cardiac dysfunction. EEG patterns included theta and delta activity with rhythmic slow wave epileptic activity, predominating on right side, in temporal areas. CT scan was normal. MRI showed right cerebral atrophy, prevailing in the temporo-mesial region, with right temporal horn enlargement. This case report of dacrystic seizures, the first one with MRI study, suggests that temporo-mesial structures of the non-dominant hemisphere may be involved in dacrystic and asystolic attacks.
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PMID:[Dacrystic and asystolic epileptic seizures]. 748 7

In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brain atrophy. Striking differences in phenotypic expression were also seen in two affected siblings. Clinical heterogeneity is observed not only in mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.
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PMID:Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). 762 21

N,N-dimethiltryptamine (DMT) in urine has been quantified on an 83-psychiatric patient sample. Sample covered patients who had sometimes been administered neuroleptic drugs as well as patients with some particular symptomatology associated to psychotic disorders such as hallucinations, delusions, perception disorders, etc. 43.3% (36 cases) evidenced an abnormally high DMT in urine (0.9-13.5 mcg/24 h). Higher values were more frequently found in both schizophrenic patients, and non-schizophrenic patients with either hallucinations, delusions, anorexia or bulimia. Most patients with DMT normal values (< 0.5 mcg/24 h) presented either mental retardation, cerebral atrophy or dysrhythmias. A very good correlation was found between urinary DMT abnormally high values, and patients' improvement after such patients had been treated with neuroleptic drugs.
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PMID:[Elimination of N,N-dimethyltryptamine by urine]. 790 22

We report a 48-year-old Japanese man suffering from xeroderma pigmentosum associated with mental retardation, cerebral atrophy and cerebellar ataxia. Cultured fibroblasts from an unexposed area of skin had reduced DNA repair capacity after UV irradiation, with higher sensitivity to UV than normal cells in colony-forming ability and host cell reactivation using herpes simplex virus. Genetic complementation tests by cell fusion with polyethylene glycol revealed that the patient belonged to group F. He died of bile duct cancer at the age of 50. This is the first report of an XP-F patient with neurological abnormalities.
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PMID:A case of xeroderma pigmentosum complementation group F with neurological abnormalities. 842 28


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