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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Methemoglobinemia and mental retardation associated with NADH-diaphorase deficiency was found in a 2-year-old girl of Spanish origin. She showed no NADH-diaphorase activity in either erythrocytes or leukocytes, but electrophoretic studies of the hemolysate showed traces of an enzyme with normal mobility. Cytochrome b5 reductase activity was also found to be absent in the leukocytes of the propostius. Intermediate NADH-diaphorase activity was found in erythrocytes and leukocytes in her parents and her sister in accordance with the autosomal recessive mode of inheritance of this enzymopathy. The relationship between a generalized cytochrome b5 reductase deficiency and the progressive neurological involvement in our patient is discussed briefly.
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PMID:Congenital methemoglobin-reductase (cytochrome b5 reductase) deficiency associated with mental retardation in a Spanish girl. 9 93

A familial disorder was characterized by chorea, ataxia, myoclonus, convulsions, dementia, and mental retardation. In five cases, the main lesion affected cerebellar dentate nuclei, with nerve cell loss, gliosis, chromatolysis, and grumose degeneration. Fibrous glial cell proliferation was detected in the globus pallidus.
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PMID:Familial chorea and myoclonus epilepsy. 9 88

Continuing progress has been made in the exploration of the biochemical causes of mental illness. Recent research has indicated that selected abnormalities of specific isoenzymes play an important role in the pathogenesis of heritable metabolic disorders such as phenylketonuria and Niemann-Pick disease. The roles of "animal lectins" and glycosidic enzymes in brain development and synaptogenesis appear to have received important substantiation within the past year. In additions, it has been shown that the blood-brain barrier can be temporarily altered so that exogenous enzymes can enter the central nervous system, and imperative consideration for enzyme replacement therapy in mental disorders. Less satisfactory progress has been made concerining potential anabolic disorders of lipids affecting the nervous system. Finally, novel experimental directions concerning energy metabolism by the brain offer considerable hope for the elucidation of some of the causes of mental retardation.
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PMID:Inherited metabolic diseases and pathogenesis of mental retardation. 10 26

This report is a sequel to our 1958, 1960 and 1968 reports on a series of patients operated upon for focal epilepsy whose surgical specimens unexpectedly showed histological lesions typical of active encephalitis. None of these patients, now 27 in number, exhibited the clinical picture ordinarily associated with encephalitis. With one exception, all showed a severe focal seizure tendency beginning in infancy or childhood, often associated with episodes of epilepsia partialis continua. In addition, all except 2 showed slowly progressive neurological deterioration, usually hemiparesis and mental retardation, which advanced over periods of months or years before the progression became arrested. No infectious agent has yet been identified by standard viral studies carried out in the most recent 14 patients or by investigation for slow viruses in 6 patients operated upon between 1966 and 1971. The clinical course of this condition is outlined and the role, the timing and the results of treatment by craniotomy and cortical excision are discussed.
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PMID:Further observations on the syndrome of chronic encephalitis and epilepsy. 10 97

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

Comprehensive screening programs to control congenital hypothyroidism (CH), a preventable form of mental retardation, are being considered by some public health agencies. The proposed programs would test neonates' blood for thyroxine and, if warranted, provide follow-up testing and therapy. The estimated cost of detecting a single case of CH is $9,300, which includes specimen collection, laboratory analysis, and retesting of border-line cases. The present value of the treatment costs of CH adds $2,500 per case, a total cost of $11,800 per case detected and child treated. The economic benefits (averted costs of institutionalization and special education and increased productivity of the affected person) are estimated to have a present value of $105,000 per case, yielding a cost-benefit ratio of 1:8.9.
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PMID:Congenital hypothyroidism control programs. A cost-benefit analysis. 10 9

A 14-year-old boy was found to excrete excessive amounts of acidic glycosaminoglycans which were predominantly chondroitin 4-sulfate and chondroitin 6-sulfate. Clinical features included dwarfism, mental retardation, coarse facies, deformities of the spine, hip joints and thorax, and granulations in leucocytes. The clinical and biochemical features found in this boy were compared with the known types of mucopolysaccharidosis and it has been concluded that this case is a new type of mucopolysacchariduria.
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PMID:Chondroitin 4- and 6-sulfaturia: a new type of inborn error of metabolism? 10 12

In man, the period of maximum risk for the embryo and foetus is between the second and tenth week after conception. The most frequent and most severe malformation is microcephaly which in extreme cases is accompanied by mental retardation. The results of studies in experimental animals and man agree that it is impossible to demonstrate any increased risk of malformation with doses below 15 rads, and that the increase over the spontaneous incidence of malformation is slight at doses below 25 rads. A very small increase in the frequency of leukaemias and cancers has been observed after irradiation in utero for pelvimetry, which delivers a few rads; it can be estimated from these data that a dose of 2 rads induces at the most the risk of one case of cancer in 2,000 children. In practice, it is only exceptionally that an abortion is advised after a diagnostic radiological examination, since the doses in these circumstances are relatively low. A therapeutic termination of pregnancy should be advised when the dose is greater than 20 rads, but it is necessary to take into account other medico-social factors. Conversely, it is important to avoid any irradiation in women who could be pregnant and in particular avoid any irradiation of the true pelvis during the 10 days prior to menses and especially if there has been a delay in the start of menstruation. In pregnant women radiological examinations should only be made if they are of paramount importance for the mother, and all precautions taken to reduce the dose to the uterus in the absolute minimum.
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PMID:[The problems raised by the irradiation of pregnant women. Effects of ionizing radiations on the embryon and foetus (author's transl)]. 11 30

The mucopolysaccharidoses (MPS) are hereditary diseases that result in deformities related to connective tissues. Some types of MPS lead to progressive mental retardation. Biochemically, these syndromes are characterized by excessive accumulation and excretion of various types of glycosaminoglycans (mucopolysaccharides). These diseases result from absence of various lysosomal enzymes involved in glycosaminoglycan degradation. The definition of the defects in the MPS has led to advancing diagnosis, counseling, and the possibilities of prenatal diagnosis of this group of dieseases.
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PMID:The mucopolysaccaridoses: clinical and biochemical correlations. 11 15

Mucolipidosis II is a severe inherited lysosomal storage disease characterized by profound psychomotor retardation, severe Hurler-like skeletal changes and normal urinary mucopolysaccharide excretion. Mucolipidosis II is a related disorder distinguished by its milder course, milder to absent mental retardation and survival to adult life. Cultivated fibroblasts from patients with both of these disorders display large inclusions on phase microscopy and reduced levels of many acid hydrolases. However, culture medium fibroblasts out the body fluids of affected patients show enormously elevated levels of these hydrolases. The lysosomal enzyme activities in serum, leukocytes, fibroblasts extracts and culture medium from seven patients with mucolipidosis II are similar to those found in four cases of mucolipidosis III. The findings of excessive excretion of sialyl-oligosaccharide in urine and of increased level of sialic acid compounds in cultured fibroblasts associated with a sialidase deficiency in leukocytes, fibroblasts and serum are discussed.
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PMID:[Mucolipidosis. biologic characteristics (author's transl)]. 11 47


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