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)

A 8 year old boy with short stature, low height velocity, mental retardation, cutaneous abnormalities, common variable immunodeficiency and increased chromosomal instability is described. In this patient growth hormone deficiency could be demonstrated by several stimulation tests. Growth hormone treatment increased growth rate from 4 cm/year before therapy to 7.8 cm in the first and 7.1 cm in the second year of treatment. Under therapy no effect on the immunological reactivity could be observed.
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PMID:[Growth hormone therapy in STH deficiency with immunologic deficiency and chromosome fragility]. 161 48

Thirty-one children under the age of 15 years with verified medulloblastoma were treated at Addenbrookes Hospital from 1940 to 1976. In addition to surgical treatment, all received high dose irradiation to the whole neuraxis. Nine were still alive in 1979, of whom eight were examined. All these patients showed some residual problems, but five were leading active lives and had only minor physical disability. There was evidence of disturbance in growth, with shortening of the spine in relation to the limbs, in all the children. The height centile was lower than expected from parental height in four and one was severely dwarfed. Growth hormone secretion in response to exercise was, however, normal in five of six patients tested. Three children also showed failure of growth of the jaw sufficiently severe to be a cosmetic problem. Frank mental retardation was present in three children. A raised resting TSH level was found in two children, one of whom had a multinodular goiter. Of the three children with severe problems, two had been treated when under two years of age. Long-term follow-up of children who survive medulloblastoma is clearly necessary and consideration should perhaps be given to revision of current treatment regimes in very young children.
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PMID:Medulloblastoma in childhood: long-term results of treatment. 723 89

We report on a new autosomal-recessive syndrome in 4 Japanese children in 2 families. The key manifestations are Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, metabolic acidosis, and autosomal-recessive inheritance. There were no consanguineous marriages. Abnormal eye movements were noticed neonatally, and ophthalmological examinations showed no visual acuity, pigmentary retinal degeneration, and nonrecordable electroretinograms in all cases. Inadequate weight gain and short stature gradually became apparent after birth, and at present the height range is -4.6 - -7.2 SD (standard deviations). Developmental delay was noted at age 4 months, and the developmental quotient is 50-70 at present. Deterioration of development and convulsions were not recognized. Elevated serum aminotransferase levels and metabolic acidosis were also found at age 4 months. Proximal renal tubular acidosis was clarified by bicarbonate tolerance tests in 1 case, and may have caused metabolic acidosis. Growth hormone secretion was insufficient by insulin tolerance test in 3 cases. One year of growth hormone therapy in 2 cases did not affect growth velocity. Hepatic dysfunction and metabolic acidosis ameliorated later. No renal cysts were found. A cranial computed tomographic scan and magnetic resonance imaging showed normal findings. Amino acids, organic acids, and very long chain fatty acid levels in plasma were all normal in the 3 cases examined. Histopathological and mitochondrial DNA analyses showed no evidence of mitochondrial disorders.
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PMID:New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. 926 92

The genetic disorders Prader-Willi syndrome and Down syndrome have a number of features in common, for example, both growth and mental retardation. Growth hormone (GH) treatment is becoming part of the clinical management of children with Prader-Willi syndrome, but in children with Down syndrome, such therapy is still on a research level. In this review, we compare the clinical phenotypes of the two syndromes, and report the effects of long-term GH treatment on the linear growth and psychomotor development of 15 young children with Down syndrome (mean age at start of treatment, 7.4 months). The mean height of the treated children with Down syndrome increased significantly from -1.8 to -0.8 SDS (Swedish standard) during the 3 years of GH therapy (P < 0.001). The mean height of a corresponding control group fell from -1.7 to -2.2 SDS. After the cessation of treatment, growth velocity declined in the treated group. Growth of the head did not increase during GH treatment. There was no effect on mental or gross-motor development, although some improvement in fine-motor development was noted in the GH-treated group (P < 0.01). At present, treatment with GH is not recommended in children with Down syndrome who have not been diagnosed with GH deficiency. Long-term studies with an emphasis also on the metabolic effects of GH therapy are necessary before routine treatment can be considered in such children.
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PMID:Growth hormone therapy in young children with Down syndrome and a clinical comparison of Down and Prader-Willi syndromes. 1098 60

We report on a 13-year-old girl who was the first child of nonconsanguineous parents, and who suffered from short stature accompanied with mental retardation, generalized hyperpigmentation of the skin and craniofacial findings. Her cardiological examination revealed atrial septal defect, mitral valve prolapsus and atrial septal aneurysm. Brain scans revealed dilatation of the third and lateral ventricles and a pontine cleft. Growth hormone (GH) deficiency was observed during the evaluation of GH/IGF-I axis. All the laboratory tests performed including metabolic screening, conventional karyotype and oligonucleotide array were normal. Mutation analysis of the C2ORF3 7 gene revealed no mutation. The clinical signs seen in this patient likely represent a new dysmorphological syndrome which has not been previously described.
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PMID:A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies. 2287 88