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 1-year birth cohort from northern Finland comprised 12,058 children, 96% of all live-born infants born in the region in 1966. The development and morbidity of these children were followed up to the age of 14 years. Altogether, 40 children (25 boys and 15 girls) 3.32 per 1,000 suffered from congenital malformations of the central nervous system (CNS). Fourteen (1.16) had spina bifida cystica, 17 (1.41) hydrocephalus, and 9 (0.75) miscellaneous other malformations. Altogether, 14 children died during the follow-up period, giving a prevalence of 2.21 per 1,000 at 14 years. Additional neurological handicaps, mental retardation, cerebral palsy or epilepsy were present in 23 children, 13 of whom had multiple handicaps. Of these children 26% were able to attend an ordinary school in the class appropriate for their age. It is concluded that the incidences for CNS malformations obtained in this study are very much higher than those reported in the Finnish Register of Congenital Malformations, but correspond very well to the figures obtained in the British 1958 birth cohort, which was studied in an analogous way.
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PMID:Congenital malformations of the central nervous system in a 1-year birth cohort followed to the age of 14 years. 294 47

A case of quadrigeminal cistern arachnoid cyst associated with hydrocephalus is reported. A 1-year-old girl was admitted to our service on July 31, 1984, because of mental retardation and an enlarged head. She was born of a full-term pregnancy and normal vaginal delivery without prenatal complications. Progressive increase in her head circumference was noticed at the age of 6 months by her family physician. On admission she was found to be a well-nourished infant with a head circumference of 56 cm, bulging anterior fontanelle and mental retardation. Marked dilatation of the lateral ventricles and a large cyst in the quadrigeminal cistern were demonstrated on plain CT. There were no findings of communication between the ventricular system and the cyst on metrizamide CT ventriculography. The extension of the cyst from the quadrigeminal cistern to the right cerebello-pontine angle was demonstrated on reconstructed coronal CT. Reconstructed sagittal section revealed huge hydrocephalus caused by aqueductal stenosis. A vertebral angiography demonstrated opening of the para-mesencephalic segments of the bilateral posterior cerebral arteries and downward displacement of the right superior cerebellar artery. Accordingly, a large quadrigeminal cistern arachnoid cyst with hydrocephalus caused by aqueductal stenosis was suspected. Following V-P shunt operation for hydrocephalus, right temporo-parietal craniotomy was performed. The inner wall of the lateral ventricle was thin and an expanding cyst was observed through it. A partial resection of the cyst wall with the ventricular wall was performed to obtain communication between the cyst and lateral ventricle. The content of the cyst was watery clear fluid like CSF.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of quadrigeminal cistern arachnoid cyst associated with hydrocephalus]. 322 70

A 1 year birth cohort in the provinces of Oulu and Lapland in the Northern part of Finland consisted of 12058 live-born infants, this being 96% of all children born in 1966 in this area. Information on morbidity up to the age of 14 years was collected prospectively by means of questionnaires, special examinations and from national and regional registers of hospital admissions and social services contacts. The total number of children with epilepsy, defined as the occurrence of at least one afebrile epileptic seizure, was 208, 113 boys and 95 girls. The cumulative incidences for epilepsy up to the age of 14 years was 17.3 per 1000. Primary generalised epilepsy was present in 63% and partial seizures in 37%. At least one additional handicapping condition, such as cerebral palsy, mental retardation, and visual or auditory defect was present in 74 children (35.5%). Mental retardation was the most frequent additional handicap, being present in 28%, whereas 16% of the children had cerebral palsy. A total of 75% of the children were able to attend an ordinary school. The high frequency of epilepsy in this study, as compared to other studies, is explained by the cumulative registration of the cases and a high degree of ascertainment of cases with epilepsy.
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PMID:Epilepsy and associated handicaps in a 1 year birth cohort in northern Finland. 404 24

A 1-year-old male infant was found to have a de novo unbalanced translocation, resulting in trisomy for a portion of the short arm of chromosome 3, i.e. 46,XY,der(7)t(3;7) (p24.1;p22). Previous cases with a so-called "trisomy 3p syndrome" were evaluated by GTG banding, while we attempted to characterize the present case by the FISH-technique. The major clinical features included: dysmorphic ears, decreased muscle tone and seizure episodes associated with fever, which are concordant with "trisomy 3p syndrome". The most common malformations of trisomy 3p syndrome are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and congenital heart defects. Predominantly, the 3p trisomies have been maternally derived and the major mechanism of inheritance is due to a malsegregation of the chromosomes that are involved in a parental balanced translocation. A review of 44 cases from 35 studies revealed that the clinical manifestations have been quite varied, depending upon the amount of 3p2 material in the trisomic state, but interestingly a recognizable pattern of features was obvious in those cases whose cytogenetic findings and clinical histories were known.
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PMID:Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature. 758 45

The triplication of a region of chromosome 21 around D21S55 in 21q22.2-22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR). To improve the physical map of this region, we screened yeast artificial chromosome (YAC) libraries with ETS2 and ERG sequences. Five selected clones were analyzed by AluPCR, pulsed-field gel electrophoresis, and in situ hybridization. A 1.2-Mg contig, encompassing the protooncogenes ETS2 and ERG, was identified, its restriction map established and compared to the genomic map. ERG is distal to D21S55 and proximal to ETS2. ERG and ETS2 genes are 400 kb apart and in opposite orientations. The contig contains the distal boundary and part of the DCR. Three putative HTF islands were identified.
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PMID:Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases. 806 51

A 1-year-8-month-old patient developed cerebellar ataxia following a prodromal infection. Despite initial diagnosis of acute cerebellar ataxia, his symptoms lasted for more than 30 days. High-dose intravenous immunoglobulin and steroid pulse therapy failed to ameliorate his cerebellar symptoms, which fluctuated in association with infections. At the age of 3 years and 8 months, he had mental retardation with cerebellar symptoms. Findings of MR imaging and single photon emission computed tomography were normal. Neuron-specific enolase of cerebrospinal fluid (CSF) ranged from 10.4-17.6 ng/ml, correlating with the cerebellar symptoms. Serum and CSF anti-glutamate receptor delta 2 antibodies were detected in the serum and CSF. We diagnosed him as having chronic cerebellitis associated with anti-glutamate receptor delta 2 antibody.
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PMID:[A case of chronic cerebellitis with anti-glutamate receptor delta 2 antibody]. 1473 66

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Children with WAGR syndrome invariably have a constitutional chromosomal deletion at 11p13. WT1 haploinsufficiency is associated with a significant risk of Wilms tumor while PAX6 haploinsufficiency lead to aniridia, both genes located in the deleted region. The 46,XY patients with WAGR syndrome are often born with genital abnormalities such as cryptorchidism or hypospadias but more rarely ambiguous genitalia. To our knowledge, complete sex reversal has never been observed in WAGR syndrome patients. Here, we report on the clinical, cytogenetic, and molecular characterization of a child with WAGR syndrome and complete sex reversal. The young girl had female external and internal genitalia with normal uterus and fallopian tubes while the ovaries were not observed. Chromosomal analysis showed a 46,XY,del(11)(p12p14.1) karyotype. A 1-Mb resolution array CGH experiment estimated the size of the interstitial deletion at approximately 10 Mb encompassing WT1 and PAX6. The entire coding regions of WT1 and SRY have been sequenced and no mutation has been identified. Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene. Complete sex reversal is a feature usually present in FS and sometimes in DDS, but until now never observed in WAGR syndrome. The present report suggests that these conditions may be considered as part of the spectrum of disease due to WT1 gene alterations.
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PMID:Complete sex reversal in a WAGR syndrome patient. 1793 32