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)

The clinical, genetic, and neuroradiologic characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) are delineated in six patients from three generations of a Japanese family. The clinical characteristics of the disease varied, the age at onset depending on patients with juvenile-onset were characterized by myoclonus, epilepsy, and mental retardation whereas cerebellar ataxia, choreoathetosis, and dementia were typical of adult- and senile-onset patients. All affected individuals showed one expanded allele with the repeat number of CAG at the DRPLA locus, ranging from 58 to 82, and a normal allele, ranging from 10 to 21. The most severely affected patient, a case of maternal transmission and with the largest allele, became bedridden in a vegetative state by age 12. On the CT and MRI, varying degrees of brain atrophy were present in all patients. T2-weighted MRI in patients with senile-onset showed symmetric high-signal lesions in the cerebral white matter, globus pallidus, thalamus, midbrain, and pons. However, MRI in younger patients revealed no such lesions and CT failed to demonstrate lesions in the globus pallidus and brain stem. Thus, intrafamilial heterogeneity of DRPLA was also evident on MRI. High-signal lesions involving both, subcortical white matter and thalamus may be characteristics of senile-onset patients and may correlate with their dementia.
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PMID:Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. 858 78

We report on a 53-year-old woman and her 20-year-old son who both presented with polysndactyly, without other external malformations or mental retardation. MRI imaging revealed, as an incidental finding, asymptomatic hypothalamic hamartomas in both patients. The siblings of both mother and son are unaffected. This family may represent an autosomal dominant variant of Pallister-Hall syndrome.
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PMID:Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. 859 73

We report our clinical and neuroradiologic findings in 13 patients affected by hypomelanosis of Ito. Seven patients were boys and six were girls; their ages ranged from 11 months to 16 years. Neurologic signs were present in all but two cases, and they consisted of language disabilities, seizures, hypotonia, mental retardation, and autistic behavior. MRI was performed in all patients. We observed anomalies of the white matter in seven of the 13 patients; all but one of these seven had neurologic signs that included seizures, hypotonia, language disabilities, and mental retardation. The abnormal signals in the white matter were mostly located in the parietal periventricular and subcortical regions of both hemispheres. Moreover, we found asymmetry of the cerebral hemispheres in one of our 13 patients and atrophy of the cerebellar vermis in another patient, with no involvement of the white matter in either. In the remaining four of the 13 patients results of MRI appeared normal. There was a relationship between the anomalies in the central nervous system at MRI, as a whole, and the neurologic manifestations, even though two patients with apparently normal images on MRI had partial and generalized tonic clonic seizures, respectively. A correlation was also found between white matter anomalies and neurologic signs; extended and deep changes in white matter images were associated with more severe neurologic abnormalities and delayed language milestones appeared to be a constant finding in this group of patients. These anomalies of the white matter, which did not progress over time, resembled those seen in other neurocutaneous syndromes. The hypothesis is presented that underlying disarray of cortical lamination or neuronal loss with subsequent wallerian degeneration and altered or delayed myelination could be the cause of the abnormal findings on MRI.
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PMID:Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). 861 19

In a patient with Turner mosaicism who had mental retardation, epilepsy and cerebellar ataxia, MRI showed cerebellar atrophy and a bizarre cortical dysgenesis of the cerebrum, which was considered to comprise a mixture of relatively normal gyri and structures resembling pachygyria and lissencephaly. The karyotype of the patient was 45,X/47,XXX, but the brain dysgenesis could not be explained solely on the basis of this mosaicism, which is rarely associated with a gross abnormality in brain pathology. Abnormality of the X chromosome seems to have some potential for inducing cortical dysgenesis, and this case may be partially attributable to an abnormal locus on the X chromosome.
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PMID:Cortical dysgenesis in a patient with Turner mosaicism. 869 53

Autosomal dominant, autosomal recessive and X-linked recessive varieties of spastic paraplegia have been recognized. Recently, Japanese patients with complicated form of autosomal recessive hereditary spastic paraplegia (HSP) associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. We describe a patient with complicated HSP (Iwabuchi type) and cataracta. A 38-year-old man (his parents were a second cousin) was born uneventfully. His motor development was normal. Motor and mental dysfunctions were noticed during the lower classes of an elementary school. He could ride a bicycle at 18 years old but gradually developed galt disturbance and confined to wheelchair since 35 years. He was admitted to our hospital on February 25, 1994. A neurological examination showed mental retardation, dementia, cataracta, cerebellar ataxia, rigidity, spasticity, severe atrophy of the distal muscles of his extremities, paraparesis, hyperreflexia, positive Hoffmann reflexes and Babinski signs, pes cavus and hammer toes. Brain MRI showed thinning of corpus callosum. Clinical and laboratory findings did not support a diagnosis of metabolic disorders showing spastic paraparesis including adrenomyeloneuropathy, Globoid leukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, Arginase deficiency. We considered that our patient was complicated form of HSP (Iwabuchi et al). However, cataract has not been found in Iwabuchi type of HSP. We discussed here other reports showing cataracta with spastic paraparesis.
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PMID:[A case of complicated form of hereditary spastic paraplegia associated with hypoplasia of the corpus callosum and cataracta]. 877 6

Nine children with congenital rubella syndrome were examined with respect to the relation between clinical symptoms and the findings of computed tomography (CT, 9/9 cases) and magnetic resonance imaging (MRI, 7/9 cases). All patients had deafness, and three had relatively severe sequelae in the central nervous system (CNS), such as mental retardation (MR), cerebral palsy (CP) or microcephaly. In four patients, dilatation of the lateral ventricles was found by CT; in four patients, low-density areas were noted in the periventricular white matter and/or the subcortical white matter; one patient showed a spotty calcified area in the lenticula. No abnormal findings were found by CT in other three patients. MRI in seven children demonstrated areas of prolonged T1 and T2 relaxation times in the white matter in all of them. In relation to clinical symptoms, five patients without dilatation of the lateral ventricles had no sequelae except deafness. On the other hand, in four patients with dilation of the lateral ventricles, three had MR, CP or microcephaly. This study showed that there was a close relation between the ventricular dilatation and sequelae with in CNS, whereas abnormal intensity areas in the white matter found by MRI were not related well to the sequelae of CNS.
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PMID:[Computed tomography and magnetic resonance imaging of the brain in congenital rubella syndrome]. 883 Dec 40

CNS lesions of tuberous sclerosis complex (TSC) are due to a developmental disorder of neurogenesis and neuronal migration. MRI studies provide excellent in vivo demonstration of the various pathologic lesions. Symptoms of cortical tubers may include seizures, mental retardation, learning disabilities, and abnormal behavior. Seizures have a focal or multifocal origin, this clinical feature depending on the localization of the cortical tubers. Epilepsy associated with TSC is often intractable, but seizure control has benefited from the introduction of the new antiepileptic drugs. Carefully selected drug-resistant patients can be assessed with intensive monitoring as candidates for surgical removal of epileptogenic lesions. The success of epilepsy surgery is predicated on the clear identification of epileptogenic foci.
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PMID:Neurological manifestations of tuberous sclerosis complex. 890 65

Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI and an intracranial arteriovenous malformation (AVM), which has not been previously reported.
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PMID:Arteriovenous malformation in hypomelanosis of Ito. 890 50

Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multi-system disorder with a wide spectrum of muscular and extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted of diffuse atrophy (68%), subcortical white matter lesions (65%), wide Virchow-Robin spaces (38%) and thickening of the skull (35%). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring muscles causing a mosaic pattern of the thigh in 38% and the calf in 44%. Muscular changes on MRI were strongly correlated with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits.
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PMID:The clinical and genetic correlates of MRI findings in myotonic dystrophy. 891 17

A 38 year old patient with megalencephaly, mental retardation, and lifelong tremor developed levodopa responsive parkinsonism in his mid-30s followed by the appearance of dyskinesiae, motor fluctuations, hallucinations, and dementia. Brain MRI showed, as well as other changes, iron deposition in the globus pallidus, substantia nigra, and the pulvinar of the thalamus. Postmortem examination disclosed depigmentation of the substantia nigra pars compacta with neuronal loss, gliosis, and Lewy body formation. Axonal dystrophic spheroids, neuronal loss, calcification, and iron deposition were found in the substantia nigra pars reticulata. Less severe changes without neuronal loss were seen in the globus pallidus. This combination of megalencephaly with neuroaxonal changes predominantly in the pars reticulata and Lewy body degeneration isolated to the substantia nigra pars compacta has not been previously reported.
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PMID:Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. 893 52


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