Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020672 (hypothermia)
 17,327 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied 2 of 4 affected boys with a new disease associated with abnormalities of copper metabolism. The four cases occurred in two generations of a family. This syndrome was similar to Menkes disease in some respects: X-linked recessive inheritance, marked psychomotor retardation with seizures, low serum copper and ceruloplasmin levels, and a block in gut copper absorption. There were also striking differences from Menkes disease. Patients had normal birthweight at term, no hypothermia, and survived beyond the usual Menkes age group with static neurologic disease including hypotonia and choreoathetosis. In addition, general examination of both children was unremarkable apart from undescended testes and growth retardation. The hair, facies, and skin were normal and there was no radiologic evidence of bony changes. Detailed studies of copper absorption were performed.
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PMID:An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. 719 7

Menkes disease is a rare X-linked recessive disease of copper metabolism. Clinical manifestations begin in the first few months of life or even in the neonatal period. Hypothermia, hypotonia, poor weight gain, seizures and neurodevelopmental delay or regression are seen. Outcome is poor, with death occurring usually by 3 years of age. A characteristic facial appearance with steely hair suggest the diagnosis. Neuroimaging usually shows cortical atrophy, extra-axial fluid collections and progressive and extensive degeneration of grey matter with secondary demyelination. We describe an atypical, but biochemically proven case of Menkes disease with atypical clinical and radiological features. Our patient had a large head, atypical electron microscopy appearances of the hair and predominant diffuse white matter involvement on neuroimaging, but a low serum copper level and a high 64CU uptake in fibroblasts (89.5 ng/mg of protein) confirmed the diagnosis.
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PMID:Menkes kinky hair disease: an unusual case. 1087 9

Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.
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PMID:Menkes disease presenting with epilepsia partialis continua. 2550 48