Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cerebrovascular disorders in children is a rare clinical entity, epidemiologic studies of which are very scarce in Japan. Hence this study analyzed 13,131 sick children admitted to Children's General Hospital in light of the incidence of cerebrovascular accident in children and its specific characteristics. In this paper, the cases of cerebral infarct are analyzed with special reference to their developmental outcomes. The results show that one hundred twenty children (0.85 percent of all sick children) had cerebrovascular disorders documented both in clinical pictures and CT scans. This number accounted for 2.5% of 4,738 CT examinations performed for these sick children. There were 79 cases of intracranial hemorrhage, 24 of cerebral infarction and 17 of vascular anomalies, 65.8%, 20.0% and 14.2% respectively. In the intracranial hemorrhage group, there was a different pathophysiology in each age group. The fact that intraventricular hemorrhage occurred in premature neonates, subarachnoid or posterior fossa subdural hemorrhage in mature neonates and infants, and intracerebral hematoma in elder children due to different causes was very striking. In the cerebral infarct group, the middle cerebral artery was most commonly affected (11 out of 24 cases); others had various lesions such as lacunar stroke, internal carotid artery occlusion and so on. The most impressive but disappointing fact in those children was that their clinical pictures were quite miserable, revealing low IQs. Nine out of 24 children with cerebral infarct had IQs below 20. In the abnormal vessels group, there were Moyamoya disease, arteriovenous malformation, intracranial aneurysm, Sturge-Weber syndrome, Menkes disease and coiling of the internal carotid or vertebral arteries each demonstrating unique angiographic findings.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Incidence and characteristics of cerebrovascular disorders in children--critical analysis of 120 cases experienced at a children's general hospital]. 370 14

A 67-year-old woman had frequent subacute ileus, hearing difficulty, muscle atrophy and stroke-like episodes. Computed tomography revealed multiple low-density areas, which did not correlate with the vascular supply, in the cerebral cortex. She had metabolic disturbance comprising lactic acidosis and elevated pyruvate level. Her skeletal muscle biopsy specimen showed ragged-red fibers, and mitochondrial DNA analysis revealed a point mutation at position 3243, findings consistent with MELAS. Examination of her small intestine revealed a necrotic zone and numerous abnormal large mitochondria in the smooth muscle cells, vascular media and endothelium, and intestinal ganglion cells. The cerebral cortex showed multiple microcystic necrotic foci in cerebral cortex. Cactus-like pathology resembling the changes associated with Menkes' kinky hair disease and torpedoes were observed in the cerebellar Purkinje cells. The intestinal dysmotility due to MELAS and cerebellar changes were presumed to be associated with a disturbance of copper metabolism.
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PMID:Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology. 1107 25