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 case of Farber's disease (disseminated lipogranulomatosis) is reported. A Japanese boy presented with progressive joint deformity, a hoarse voice, mental retardation and skin granulomatous lesions. He died of bronchopneumonia at the age of 2 years. Biopsied specimen from the perianal granulomatous lesion showed many macrophage contained lipids, and acidic oligo-, or polysaccharides, or, glycoconjugates. Electron microscopic study revealed, in addition to curvilinear tubular bodies (Farber's bodies), numerous granular structures accumulated in the cytoplasm of the macrophage. Biochemical analysis demonstrated a storage of free ceramide in the patient's liver, and confirmed the patient's diagnosis. This is the 5th case reported in Japan.
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PMID:[A case of Farber's disease--histochemical, electron microscopic and biochemical studies]. 192 Aug 94

beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of beta-mannosidosis. Further investigation of this gypsy family revealed beta-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. beta-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of beta-mannosidase were found in fibroblasts and/or plasma of the parents and one sister.
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PMID:Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. 207 35

Case S.S. 59 years of age, male. At the age of 25, he had admitted to sanatorium for 7 years because of pulmonary tuberculosis. After his discharge, at the age of 45, he had started complaining of depressive mood or the idea of suicide and admitted to a mental hospital. Psychiatric diagnosis was depression and slight mental retardation. Shortly after, his depressive mood was improved, but his hypochondriac attitude was unchanged. No tendency toward dementia was proven. At the age of 54, he became enable to walk. Neurologically, pyramidal and some sort of extrapyramidal signs, dysarthria, disturbance of swallowing, fecal and urinary incontinence became apparent. Laboratory data showed scarcely any abnormality. At the age of 59, he died of bronchopneumonia. Neuropathologically, moderate degeneration of dentate nucleus, slight degeneration of pyramidal tract from medulla oblongata to spinal cord, striatum, substantia nigra were found. Neither senile plaques nor neurofibrillary changes could be seen throughout central nervous system. The most important finding is the presence of peculiar acidophilic bodies. They are round or oval, 10 approximately 20 mu in diameter and distributed in dentate nucleus, oculomotor nucleus, central grey of midbrain, superior colliculus, putamen, pallidum, subthalamic nucleus, Zona incerta, hypothalamus, Locus coeruleus, reticular formation of midbrain and pons, pontine nucleus, raphe nucleus, vestibular nucleus, inferior olive in order of number of the bodies. These bodies are scattered in so-called ground substance, and have no relations to any cell bodies or cell processes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case with peculiar acidophilic bodies in the dentate nucleus and brain stem, associated with degeneration of the pyramidal-extrapyramidal systems]. 241 58

We report the clinical history of two brothers with the classical Cockayne syndrome. The main manifestations consisted of cachectic dwarfism, mental retardation, intracranial calcifications, microcephaly, enophthalmos, senile appearance, joint hypomotility and skin photosensitivity. In one of these children, who died at 10 years of age of bronchopneumonia, necropsy studies revealed a variety of anomalies, mainly encephalic,which included an arachnoidal cyst at the base of the cerebellum, a defect apparently previously undescribed inpatients with this syndrome.
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PMID:[Cockayne syndrome in two brothers]. 1468 86

An 8-month-old boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, he had hypotonia, mental retardation, microcephaly with flat facies, low nasal bridge, small nose, small ears. Laboratory evaluation revealed Down syndrome, lymphopenia, hypogammaglobulinemia, reduced proportions of the peripheral blood lymphocytes with an inverted CD4/CD8 ratio and markedly reduced mitogen response of the lymphocytes. We report here unique case of Down syndrome associated with severe combined immunodeficiency.
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PMID:Down syndrome associated with severe combined immunodeficiency: a case report. 1985 34

Owing to the large size of chromosome 2, partial monosomy of the long arm of this chromosome gives rise to many specific phenotypes. We report on a 2-month-old girl with an interstitial deletion of 2q24.2q24.3, which was confirmed by microarray-based comparative genomic hybridization analysis. The patient showed delayed growth and mental retardation, early myoclonic seizures, and characteristic dysmorphic features including thick arched eyebrows, upslanting palpebral fissures, long eyelashes, depressed nasal bridge, short nose, long philtrum, small mouth, micrognathia, and low set ears. Her early myoclonic seizures were likely due to haploinsufficiency of SCN1A and SCN2A, which are included in the deletion region. When she experienced acute bronchopneumonia, she showed severe pulmonary emphysema. The deletion region of 2q24.2 includes the integrin beta6 gene (ITGB6), which may prevent acute lung injury and pulmonary emphysema. Many previously reported patients with deletions of 2q24.2 showed poor outcomes because of respiratory failure. These observations suggest the possibility of a strong relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction.
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PMID:Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. 2035 20

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is a congenital ciliopathy that has primary and secondary characteristics. Primary clinical features include rod-cone dystrophy, polydactyly, central obesity, genital abnormalities and mental retardation often presenting as learning difficulties. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM) and congenital heart disease. BBS patients are friendly with a happy predisposition. Proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in BBS patients.This case report illustrates the evaluation of a child with BBS, as well as the unique association of otolaryngologic symptoms and bronchopneumonia with it.
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PMID:A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl. 3172 Jan 85