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 defect in the synthesis of dihydrobiopterin was detected in an Arab girl, ascertained through high blood phenylalanine level on neonatal screening. An oral loading test with tetrahydrobiopterin (BH4) caused a significant fall in her blood phenylalanine and a rise in tyrosine concentrations. Her blood biopterin levels were low. In urine and cerebrospinal fluid (CSF) very high neopterin and low biopterin levels were observed. A deficiency of metabolites of neurotransmitters, serotonin and dopamine, was observed in CSF and urine. The patient was given replacement therapy of BH4, 5-hydroxytryptophan, and L-dopa with carbidopa starting from the age of 16 to 18 weeks. On this treatment the blood phenylalanine levels dropped to the desired range, while in urine and CSF a satisfactory rise of neurotransmitter metabolites was observed. In spite of this biochemical control, the patient developed neurological symptoms with myoclonic jerks and changes in muscle tone and presented severe cerebral damage with mental retardation. She died suddenly at the age of 38 weeks.
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PMID:Malignant phenylketonuria due to defective synthesis of dihydrobiopterin. 387 52

An abnormal extra band on the short arm of the X chromosome was found in a 7-year-old reared as a female, of mixed gonadal dysgenesis. She had ambiguous external genitalia, scoliosis, short stature, mental retardation and motor paralysis of the limbs. Chromosomal analysis revealed the karyotype of 46,Xp+ Y. An uterus with fallopian tube, a streak gonad on the left side and a testicle on the right side were discovered at exploratory laparotomy. Bilateral gonads and fallopian tube were removed. The chromosomal analysis of her normal mother showed the presence of the same abnormal X chromosome (46, X Xp+). In the literature, we found some cases of intersexuality with Xp+ in karyotype. The relationship between our own case and these Xp+ cases was discussed briefly. Thirty-five cases of mixed gonadal dysgenesis have been reported in Japanese literature, our own case being the 36th case.
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PMID:[A case of mixed gonadal dysgenesis with structural abnormalities of X chromosome (Xp+)]. 406 Dec 20

Previous reports suggested the existence of a del(12p) syndrome. Phenotypic abnormalities associated with del(12p) appear to be mental retardation, microcephaly, and micrognathia. The patient with del(12p) reported here was normocephalic and large for gestational age. She probably had sclerocornea, a finding not previously associated with del(12p). Phenotypic variation in del(12p) syndrome is probably caused by differences in the size of the deleted segment and/or the presence or absence of mutant genes on the homologous 12p segment.
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PMID:Phenotypic variation in the del(12p) syndrome. 407 26

A 34-month-old girl with Down's syndrome from the Marshall Islands was hospitalized in September, 1981, at Tripler Army Medical Center for evaluation of a heart murmur and definitive repair of an imperforate anus for which she had had a colostomy since birth. She became jaundiced and had serologic evidence of hepatitis A infection. Over the next month eight hospital personnel (four nurses, three nursing assistants and one physician) who had had direct contact with the patient became ill with hepatitis A. Our patient, like the index cases in five previous reports of nosocomial hepatitis A outbreaks, was incontinent of feces. In addition she was hospitalized during the incubation period before clinical illness when virus fecal excretion is likely to be maximal. Patients in the prodromal stage of hepatitis A infection who are hospitalized pose a significant risk to exposed hospital staff. This risk is enhanced if there are additional factors present which promote spread of disease by the fecal-oral route such as infancy, mental retardation, diarrhea and fecal incontinence.
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PMID:Hospital outbreak of hepatitis A: risk factors for spread. 623 34

A young girl with 46,XX,r(18)/46,XX/45,XX,-18 chromosome constitution is reported. She displays a slight degree of mental retardation. The line with the ring chromosome predominates in blood lymphocytes. In skin fibroblast culture the ring(18) line showed a constant decreasing trend, from 45% at the first passage, down to its disappearance at the 19th passage, where only 46,XX cells were observed. The child/mid parents' ratio of Peptidase A activity in red cells was 0.36. The Peptidase A activity in a fibroblast clone 46,XX,r(18) was 0.55 compared to the 46,XX line. These data suggest that the PEP A locus was lost in ring formation.
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PMID:A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping. 638 Aug 29

A patient with multiple exostoses, mental retardation, and unusual facies has an interstitial deletion of the long arm of chromosome 8, or 46,XX, del (8) (pter leads to q22::q24.1 leads to qter). She has some features of the Langer-Giedion syndrome, but her facies are not characteristic and she does not have cone-shaped phalangeal epiphyses. Of the eight previous reports of partial deletion of the long arm of chromosome 8, four patients had exostoses and unusual facies, three of whom had characteristics of the Langer-Gieldion syndrome. The deleted segments in the patients with exostoses are not identical, although there are areas of deletion that are seen in more than one patient. Among the explanations of the relationship of the 8q deletions to exostoses is the presence of several loci on 8q that are involved in bone formation, the deletion of any of which may give rise to a similar skeletal defect.
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PMID:Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies. 660 6

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.
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PMID:De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2). 669 86

Few reports have dealt with the structural abnormalities shown by the neuropil in mentally retarded patients. This Golgi study describes the morphologic changes observed in a brain biopsy from the cerebral cortex of a patient with Bourneville's disease (epiloia). At the time this study was made, the patient was 12 years old and had had a long history of mental retardation and uncontrollable seizures. She, her father, and three other siblings had classic cutaneous signs of epiloia. A biopsy from the right frontal cortex was immediately fixed by immersion, was processed by both H & E and the Golgi method respectively, and examined by electron microscopy. The Golgi-stained material showed a marked fibrillary gliosis at the upper and lower cortical layers, as well as in the heterotopias; the presence of giant cells, closely resembling immature pyramidal cells, with short dendrites growing from their somata and bearing few spines; some other large cells having features compatible with astrocytes; spiral-like glial processes converging upon distorted apical dendrites; these and some other neuronoglial formations establishing specialized anatomical contacts; unorderly arrangement of small and large pyramids within an abnormally compact cortex; abnormal dendritic growths at the level of dendrite bifurcations; and several aberrant patterns of spine morphology, including the megaspine. This first application of the Golgi method to the study of neuropathologic features of epiloia suggests that a poorly developed neuronal circuitry led to the abnormal brain function observed in this case. The same anatomical substrate may occur in other cases of mental retardation.
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PMID:Abnormal dendritic patterns and aberrant spine development in Bourneville's disease--a Golgi survey. 671 54

Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.
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PMID:Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. 713 86

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.
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PMID:Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32). 715 49


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