Dev Med Child Neurol. 1977 Feb;19(1):62-8.

Congenital hypocupraemia syndrome with and without steely hair: report of two Japanese infants.

Osaka K, Sato N, Matsumoto S, Ogino H, Kodama S.

Abstract

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.

PMID:: 844668; [PubMed - indexed for MEDLINE]

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Menkes kinky hair disease: an unusual case. [Eur J Paediatr Neurol. 2000]
Menkes kinky hair disease: an unusual case.
Jayawant S, Halpin S, Wallace S. Eur J Paediatr Neurol. 2000; 4(3):131-4.
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[Clinical aspects of Menkes syndrome].
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Cited by 1 PubMed Central article

High 64Cu uptake and retention values in two clinically atypical Menkes patients. [J Med Genet. 1991]
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Tønnesen T, Garrett C, Gerdes AM. J Med Genet. 1991 Sep; 28(9):615-8.

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