Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a boy with a rare unbalanced translocation 46,XY,-15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15pter----q13); hypertelorism, down-slanting small palpebral fissures, preauricular tags, long philtrum (typical of duplication of 22pter----q11); severe laryngotracheomalacia, and proximal implantation of the thumb. In a review of the literature on chromosome abnormalities involving duplication of 22q11 the associated clinical phenotype consists of mild mental retardation, microcephaly, hypotonia, hypertelorism, down-slanting palpebral fissures, a long philtrum, cleft or highly arched palate, and ear abnormalities. Preauricular pits or tags are common. Cardiovascular defects, renal and genital problems and dislocated hips are frequently present. Anal atresia and colobomata are mainly seen in cat-eye syndrome, the phenotype associated with idic 22q11. Our findings indicate that patients with unbalanced t(15;22) can have manifestations of the dup 22q11, in addition to the previously reported Prader-Willi phenotype, even if the duplicated segment is small.
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PMID:Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature. 151 45

A 14-year-old boy with mild mental retardation and behavioral features suggestive of the so called Asperger's syndrome is described. From the age of 8 years he has had recurrent episodes of lethargy. At the onset of puberty these episodes took on a more dramatic form and became more reminiscent of cycloid/manic-depressive psychosis. There is a family history of manic-depressive disorder. Neurobiological links with and differences from the syndrome of infantile autism were found. It is suggested that there is still too little evidence clearly to single out the entity of Asperger's syndrome from the spectrum of autistic syndromes.
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PMID:Asperger's syndrome and recurrent psychosis--a case study. 407 13

This review of studies on the prevalence of mental disorders in adults with mental retardation comes to the following principal conclusions: Mainly due to research problems and psychiatry's disinterest there continues to be limited epidemiological findings; compared with people of normal intelligence the prevalence rate of mental disorders is about 50% higher in mild mental retardation and 2-3 fold higher in severe mental retardation; substance abuse or -dependence as well as neurotic disturbances may be less prevalent while self-injurious behaviour seems to be rather specific for subjects with mental retardation. As far as factor analytic studies are concerned the two syndromes of irritability and lethargy may play a major role in the psychopathology of severe mental retardation.
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PMID:[Psychological disorders in mental handicap--prevalence and psychopathologic characteristics]. 794 46

An 18-year-old male suffered from familial progressive myoclonic epilepsy from the age of 7 years. In addition to seizures, there was a marked decline in school performance. At the age of 14 years, sodium valproate was started as add-on therapy; 2 weeks later he was hospitalized in a stuporous state. The serum level of valproate was within the therapeutic range. Cognitive evaluation disclosed moderate mental retardation. No metabolic abnormalities were detected. Valproate was discontinued and during the 4 following months, a slow but significant improvement was documented in cognitive functions. Repeated assessment was within the range of mild mental retardation. Initially, magnetic resonance imaging (MRI) showed mild cortical atrophy. A subsequent MRI study performed 2 years later was normal.
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PMID:Reversible cortical atrophy and cognitive decline induced by valproic acid. 1072 94