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)

A female infant with neonatal hypotonia and lethargy was found to have nonketotic hyperglycinemia. She died at the age of 5 days. Autopsy revealed slightly retarded myelination and severe spongy change in the well-myelinated areas of the brain. Analysis of this and the other 26 reported cases suggests that patients with nonketotic hyperglycinemia develop severe mental retardation, not seen in ketotic hyperglycinemia. Elevated glycine levels in the brain and cerebrospinal fluid appear to differentiate these two forms of hyperglycinemia better than the presence of ketosis or leukopenia, and high glycine levels apparently occur in the same areas as the spongy change. While both forms show defective glycine cleavage in the liver, defective glycine cleavage in the brain has been reported only in nonketotic hyperglycinemia.
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PMID:Nonketotic hyperglycinemia: report of a case and review of the clinical, chemical, and pathological changes. 61 56

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

Marker chromosomes originating from chromosome 15, often referred to as inv dup(15), is the most common marker chromosome found in humans. The large marker 15 that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region is usually associated with an abnormal phenotype of moderate to severe mental retardation, seizures, poor motor coordination, behavioral problems, and mild dysmorphic features. We report here an infant boy with two copies of the large inv dup(15). A 10-day-old infant was found to have infantile spasms, microcephaly, hypotonia, and lethargy. Lymphocyte chromosome analysis revealed a 48,XY, +2mar karyotype. Fluorescence in situ hybridization with probes rRNA, D15Z4, D15S11, and GABRB3 demonstrated that both markers were chromosome 15 in origin and contained the Prader-Willi/Angelman syndrome chromosome region. Therefore, this patient is hexasomic for the PWS/AS region. The phenotype of this patient does not appear to be significantly more severe than patients with one copy of the large inv dup(15) at birth, however, follow-up evaluation of the patient at 21 months of age shows that this patient has frequent and severe seizure activity, severe bilateral hearing loss, and cortical blindness.
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PMID:Partial hexasomy of chromosome 15. 1292 71

A 12-year-old boy was admitted with electrical burn and loss of consciousness. On physical examination his general condition was poor. Extensive burn areas, second and third degree, were present on his face, scalp, bilateral auricles, right cervical region, shoulders, right axilla, upper region of the thorax, and proximal region of the upper extremities. The total burned surface area was about 25%. Pupils were isocoric, but response to light was bilateral poor. He was stuporous and responsive only to pain. Deep tendon reflexes were exaggerated and plantar responses were bilateral extensor. Bilateral decorticate rigidity was noted. Computerized tomography of brain revealed brain edema and right thalamic hemorrhage. Magnetic resonance imaging of brain, examined 25 days after admission, revealed right thalamic hemorrhage and mild right subdural effusion. He was discharged form hospital 40 days after admission. However, spastic quadriplegia and severe mental retardation remained as sequela. On the 4th month of follow-up, no improvement was noted in his neurological examination. On the 9th month of follow-up, his clinical condition was better, but bilateral electric cataract was diagnosed. Both eyes were operated on and intraocular lenses were implanted with good results. Now he is 16th month of follow-up: neurological examination revealed only mild hemiparesis on the left side and mild articulation disorder. His school performance was moderate and intelligence quotient was 71. Magnetic resonance imaging of brain showed markedly improvement of the hemorrhage. To our best knowledge thalamic hemorrhage resulting from high-voltage electrical injury has not previously been reported in the literature.
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PMID:Right thalamic hemorrhage resulting from high-voltage electrical injury: a case report. 1503 34