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)

Two Japanese infants with Menke's kinky hair syndrome are reported. The unusual finding in one infant was the absence of the hair abnormality characteristic of this disease; other findings were consistent with the diagnosis. It is suggested that hair abnormality cannot be relied upon for the diagnosis and that the term "kinky hair" is anappropriate. In its place "congenital hypocupraemia" is proposed as the diagnostic term to embrace patients with and without hair abnormality. Serum copper determination is a simple and reliable test in the diagnosis of this syndrome and should be done routinely in all male patients with unexpected deterioration. The angiographic features present in these patients with unexpected deterioration. The angiographic features present in these patients are characteristic but not pathognomonic of the disease. Subdural hygroma, a common finding, is the result of severe brain atrophy and little can be expected by surgical intervention.
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PMID:Congenital hypocupraemia syndrome with and without steely hair: report of two Japanese infants. 84 68

The difficulties of early diagnosis of Menkes' kinky hair syndrome are described guided by the clinical courses of three related patients. One of these children could be observed continuously from birth. Different from other descriptions the diagnostic value of the clinical features observed in our patients is estimated as follows: 1. severe cerebral degeneration with seizures in the first year of life; 2. subdural hygroma; 3. decreased levels of serum copper and serum coeruloplasmin; 4. hair abnormalities; 5. skin abnormalities. The diagnosis is likely, if serum copper and serum coeruloplasmin are decreased. The diagnosis is proved by increased copper uptake into cultured fibroblasts. The prenatal diagnosis is possible by chorionic villus biopsy or amniocentesis. The importance of carrier detection by cultured fibroblasts and subsequent genetic counselling is underlined.
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PMID:[Clinical aspects of Menkes syndrome]. 343 7

Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.
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PMID:Menkes disease: case report of an uncommon presentation with white matter lesions. 1129 47