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

A case of congenital malformations of the extremities (deformed thumbs and great toes, dislocation of the hips, limitation of motion of the joints of the lower extremities), bilateral microphthalmia, bilateral retinal cysts, cerebral atrophy epilepsy, severe physical and mental retardation and monolobed neutrophil granulocytes is reported. A similar clinical picture has not previously been described. We assume that the patient suffers from a sublethal genetic disorder.
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PMID:Defective maturation of granulocytes, retinal cysts and multiple skeletal malformations in a mentally retarded girl. 41 6

The study reports a family in which three children were found to have marked sensory-motor polyneuropathy. Clinical investigations revealed a recessive hereditary form of highly progredient mostly motor polyneuropathy with atrophy and weakness of distal muscle groups and electrophysiologic evidence of neurogenic lesion-delayed neural conduction. Apart from the peripheral nerves, clinical examination and additional investigations showed that the degenerative process encompassed central nerve system structures, posterior bundles of the spinal cord, spinal cerebral pathways, cerebellum and cerebrum (cerebral sings, mental retardation, epilepsy, brain atrophy on CT, increased IGG in the liquor are present). Although clinical and electrophysiological analyses suggest type III HSMN, muscle and nerve biopsy, as well as additional diagnostic methods broaden the differential diagnostic range toward other forms of hereditary polyneuropathy, whose differentiation in practice is, in spite of clear diagnostic criteria, rather difficult, due to the presence of its transitive forms.
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PMID:[Hereditary sensory-motor polyneuropathy. Case report and problems in differential diagnosis]. 134 68

Child abuse by whiplash-shaking can lead to severe cerebral damage, neurological defects and mental retardation. Cerebral damage has been found with and without external evidence of head injury. We report the sonographic findings in two children after traumatization due to repetitive vigorous whiplash shaking. Cerebral sonography revealed cerebral edema at admission or within 48 hours thereafter. Follow-up studies demonstrated development of marked brain atrophy in both cases. The sonographic findings were confirmed by cranial computerized tomography. Doppler sonography was used to monitor cerebral perfusion by measuring intracranial blood flow. The clinical history of the patients demonstrates that cerebral sonography in combination with Doppler sonography not only serves as a diagnostic tool but also allows adjustment of therapy to the actual clinical status of the patient.
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PMID:Battered child syndrome: cerebral ultrasound and CT findings after vigorous shaking. 140 84

This study presents ultrasound findings and neurodevelopmental follow-up in ten infants born at term suffering most severe grade of hypoxic-ischemic encephalopathy. Early ultrasound findings showed in nine of these ten neonates signs of cerebral edema accompanied in two children by intraventricular haemorrhage. Late ultrasound findings in all infants examined demonstrated severe cerebral atrophy, predominantly affecting the cortico-subcortical area. In three children multiple subcortical cysts were also present, corresponding to ultrasound findings of subcortical leukomalacia. Cranial computerized tomography was performed in six of the ten children, showing more precisely the predominant site of cortical atrophy, whereas in children with ultrasound findings of subcortical leukomalacia extensive low density areas in the subcortical white matter were present. All children had neurodevelopmental follow-up for between two and seven years. Six of the ten children have multiple disabilities suffering from spastic quadriparesis, epilepsy, mental retardation and/or visual disability. Among these six were all three children with subcortical leukomalacia. All the children demonstrated poor head growth and became markedly microcephalic. We consider ultrasonography to be very useful in the diagnosis of hypoxic-ischemic brain damage in term neonates as well in predicting the neurodevelopmental outcome in asphyxiated term infants.
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PMID:Hypoxic-ischemic brain damage in term neonates--the relation of neurodevelopmental handicap to cranial ultrasound findings. 146 97

Recent evidence suggests that Alzheimer's disease is an etiologically heterogeneous disorder. A human model of Alzheimer's disease exists that avoids such problems of etiologic heterogeneity. Down syndrome (DS), trisomy 21, is a genetic disorder in which an extra portion of chromosome 21 leads to mental retardation, short stature, and phenotypic abnormalities. Prior investigations by others have shown that DS subjects over 40 years of age demonstrate neuropathologic and neurochemical defects postmortem that are virtually indistinguishable from those found in brains of Alzheimer's disease patients and a universal cognitive deterioration more severe in demented than nondemented older DS subjects. In our study, these nondemented older DS subjects show a distinctive pattern of age-related deficits, while a more global pattern is seen in demented older DS subjects. Dementia occurs in 40% of older DS subjects. We find that in older demented DS subjects positron emission tomography (PET) shows identical patterns of abnormal glucose metabolism as those described previously in Alzheimer's disease patients, selectively involving the phylogenetically newer association areas of parietal and temporal neocortices but sparing primary sensory and motor regions. Further, we find in older demented DS patients quantitative computer-assisted tomography (CT) indicates accelerated neuronal loss and brain atrophy, similar to that previously shown in Alzheimer's disease patients. As a potential use of the DS model, we observed a case of DS with dementia but without mental retardation. This case suggests that expression of dementia in DS may involve genes on chromosome 21 other than in the "obligatory" distal segment of the q arm. Alternatively, differential expression of genes on the q arm of chromosome 21 might cause dementia without phenotypic features and mental retardation.
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PMID:Nature of mental retardation and dementia in Down syndrome: study with PET, CT, and neuropsychology. 149 38

A mapping study was performed on a 3-generation Spanish family with X-linked syndromal mental retardation. Affected males have a typical facial appearance, ear malformations, abnormal growth of teeth, clinodactyly, dimpled skin at the lower back, and patellar luxation. In pneumoencephalography a marked subcortical cerebral atrophy was evident. In the linkage studies with polymorphic DNA markers, no recombination was found between the disease locus and the loci OTC and DXS148, both assigned to Xp21.1. One or more recombinants were observed between the disease locus and loci from the distal part of Xp and the pericentromeric region. Close linkage to loci of Xq has also been excluded. The analysis of multiple informative meioses suggests that the disease locus maps between DXS255 (Xp11.22) and DXS84 (Xp21.1) on Xp.
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PMID:Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome). 167 97

Neurological manifestations of xeroderma pigmentosum, a rare autosomal recessive neurocutaneous syndrome, are variable. The association with progressive mental retardation, usually with onset in childhood, is well known. We present a case of x.p. with progressive presenile dementia. This combination has, to our knowledge, not yet been reported in the literature. Although no hints on another aetiology have been found, the coincidental combination of x.p. with M. Alzheimer has to be taken into consideration. CT scan and MRI showed a marked cerebral atrophy.
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PMID:[Presenile dementia in xeroderma pigmentosum]. 174 55

Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with Peters anomaly, unusual facial appearance, disproportionate short stature, retarded skeletal maturation, and a variable degree of mental retardation. Variable digital, cardiac, CNS, and urogenital anomalies were present. The inheritance is probably autosomal recessive. The condition is a distinct clinical entity for which we suggest the eponym Krause-Kivlin syndrome. Peters anomaly is thought to result from abnormal migration of neural crest cells. A similar mechanism was implicated in the pathogenesis of other disorders of the anterior chamber. The presence of Peters anomaly, and possibly of other corneal endothelial disorders in a newborn infant, should alert the clinician to the possibility of this syndrome. Communicating hydrocephalus (or brain atrophy) and polyhydramnios were documented in two patients, potentially allowing prenatal diagnosis in secondary familial cases.
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PMID:Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome. 148 36

We present the first pathologic descriptions of the puppet-like syndrome of Angelman based on autopsy studies of a 21-year-old woman. The noteworthy findings were a small brain with mild cerebral atrophy but normal gyral development. There was marked cerebellar atrophy with loss of Purkinje and granule cells and extensive Bergmann's gliosis. Study of dendrite morphology using Golgi impregnations of the visual cortex revealed a prominent decrease in dendritic arborization of layer 3 and layer 5 pyramidal neurons. Quantitative Golgi analysis also revealed a significant decrease in the numbers of dendritic spines in apical layer 3 dendrites and both apical and basal layer 5 dendrites. Neurochemical studies of frozen brain tissue demonstrated markedly reduced gamma-aminobutyric acid content in the cerebellar cortex, as well as elevated glutamate content in the frontal and occipital cortices. Although there are no definite morphologic correlates of many of the clinical signs, the pronounced dendritic pathology and neurochemical abnormalities in cerebral cortex may provide a physiologic basis for mental retardation.
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PMID:Puppet-like syndrome of Angelman: a pathologic and neurochemical study. 200 12

We have evaluated 62 fragile X syndrome [fra(X)] individuals (55 males and 7 females) with different degrees of developmental disabilities that were clinically non-progressive and non-focal in character. The mean age for the 55 males was 23.1 years +/- 14.3 SD with a range of 2-70: for the 7 females, the mean age was 15.7 years +/- 3.5 SD with a range of 10-20 years. Mental retardation (MR) was found in 53 males (8/53 [15.1%] mild, 26/53 [49.1%] moderate, 14/53 [26.4%] severe, and 5/53 [9.4%] profound). Learning disabilities were found in 2/55 (3.6%) of males. One of the 7 females had mild and one had moderate MR: the other 5 were learning disabled. Autistic stigmata were present in 10/62 (16%) of the patients. Only 14/62 (23%) had a history of seizures, all of which were controlled with anticonvulsants. In 36/62 cases, an electroencephalogram (EEG) was performed. We compared these data with that of others. Brain stem auditory evoked response (BAER) was performed in 12 cases. Abnormalities were found in only 5/12. Neuroimaging and computerized cranial transaxial tomography (CT scan) were performed on 21/62 (34%) of the patients. Only 8 of these 21 (38%) studies were abnormal. One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities. Rapid Golgi dendritic spine patterns showed that the proximal apical segments were abnormally developed. Very thin, long tortuous spines with prominent terminal heads and irregular dilatations were present. Marked reductions in the length of the synapses, as determined on EPTA-postfixed tissue where noted.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The Fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities. 201 89


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