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)

Neuroimage studies of thirty-eight infants and children with mitochondrial disorders were reviewed: 24 ultrasound (US), 21 computed tomography (CT), and 27 magnetic resonance image (MRI) examinations were analyzed. Patients included seventeen with Leigh syndrome, two with Kearns-Sayre syndrome (KSS), one with myoclonus, epilepsy, and ragged red fibers (MERRF), one with Alpers disease, five with Menkes disease, two with fatty acid metabolic defect, two with Rett syndrome, and eight with unspecified mitochondrial disorders. KSS and MERRF tended to occur in older children, whereas Leigh syndrome, Menkes disease, and Alpers disease occurred in infants and young children. The deep cerebral nuclei and the cerebral white matter were commonly involved in Leigh syndrome and KSS. Subdural hematomas or effusions with profound cerebral atrophy was found in Alpers disease and Menkes disease. Tortuosities of basilar, Willis circle, and cerebral vessels were also noted in Menkes disease. MRI and CT examinations of Rett syndrome, fatty acid metabolic defect, and most of the unspecified mitochondrial disorders were normal. Our results indicate that neuroimage studies have characteristic findings for specific mitochondrial syndromes.
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PMID:Neuroimage in infants and children with mitochondrial disorders. 893 6