Menke's kinky hair syndrome

2011 ◽  
Keyword(s):  
Kinky Hair ◽  
Kinky Hair Syndrome

MENKES'S KINKY HAIR SYNDROME

PEDIATRICS ◽  
1972 ◽  
Vol 50 (2) ◽  
pp. 188-201 ◽  
Author(s):  
David M. Danks ◽  
Peter E. Campbell ◽  
Brian J. Stevens ◽  
Valerie Mayne ◽  
Elizabeth Cartwright
Keyword(s):  
Cerebral Arteries ◽  
Copper Metabolism ◽  
Serum Copper ◽  
Clinical Feature ◽  
Cystic Degeneration ◽  
Internal Elastic Lamina ◽  
Arterial Walls ◽  
Complete Obliteration ◽  
Kinky Hair ◽  
Kinky Hair Syndrome

Seven new cases of Menkes's kinky hair syndrome are described from five families. These patients were seen in a period of 3 years in Melbourne and the frequency of the disease is estimated to be 1 in 35,000 live births. Seven other affected males were present in these families and each pedigree was compatible with X-linked inherintance. Hypothermia was noted to be an important clinical feature which has escaped previous attention. Widespread arterial tortuosity and variation in the lumen of arteries has been demonstrated by arteriography and by microscopic examination at necropsy. Fragmentation of the internal elastic lamina is seen in the arterial walls with thickening of the intima in the most severely affected vessels. This process can lead to complete obliteration of major arteries. Involvement of cerebral arteries is the probable cause of the gliosis and cystic degeneration seen in the brain. Metachromasia was observed in fibroblasts cultured from patients and from heterozygous females. Low levels of serum copper and ceruloplasmin were found in all patients studied and a defect in the intestinal absorption of copper has been demonstrated. This appears to be the basic defect in the disease and copper deficiency provides an adequate explanation of all the features of the disease. Parenteral administration of copper may prove therapeutically effective. These findings suggest many new lines of research on copper metabolism and trace metal deficiency.

Early osseous abnormalities in Menkes' Kinky Hair Syndrome

1979 ◽  
Vol 8 (3) ◽  
pp. 191-194 ◽  
Author(s):  
K. Kozlowski ◽  
R. McCrossin
Keyword(s):  
Menkes Kinky Hair Syndrome ◽  
Kinky Hair ◽  
Kinky Hair Syndrome

PARENTERAL COPPER IN MENKES' KINKY-HAIR SYNDROME

The Lancet ◽  
1975 ◽  
Vol 306 (7936) ◽  
pp. 659-660 ◽  
Author(s):  
AdolfoD. Garnica ◽  
StevenR. Fletcher
Keyword(s):  
Menkes Kinky Hair Syndrome ◽  
Kinky Hair ◽  
Kinky Hair Syndrome

Kinky Hair Syndrome

1971 ◽  
Vol 121 (5) ◽  
pp. 447 ◽  
Author(s):  
David M. Billings
Keyword(s):  
Kinky Hair ◽  
Kinky Hair Syndrome

scholarly journals DEFECTIVE INTRACELLULAR COPPER TRANSLOCATION IN MENKES KINKY HAIR SYNDROME

1987 ◽  
Vol 21 (4) ◽  
pp. 293A-293A ◽  
Author(s):  
Seymour Packman ◽  
Sally A Sample ◽  
Susan C Whitney
Keyword(s):  
Menkes Kinky Hair Syndrome ◽  
Intracellular Copper ◽  
Kinky Hair ◽  
Kinky Hair Syndrome

KINKY HAIR SYNDROME

1974 ◽  
Vol 63 (2) ◽  
pp. 289-292 ◽  
Author(s):  
ANNE MARGRETHK
Keyword(s):  
Kinky Hair ◽  
Kinky Hair Syndrome

scholarly journals 1154 MENKES KINKY HAIR SYNDROME: SERIAL CT SCAN FINDINGS IN THREE CASES WITH PATHOLOGICAL CORRELATION IN ONE CASE

1978 ◽  
Vol 12 ◽  
pp. 556-556
Author(s):  
Alan R Seay ◽  
Patrick F Bray ◽  
Douglas Wing ◽  
Joel A Thompson ◽  
James F Bale ◽  
...  
Keyword(s):  
Ct Scan ◽  
Pathological Correlation ◽  
Serial Ct ◽  
Menkes Kinky Hair Syndrome ◽  
Kinky Hair ◽  
Kinky Hair Syndrome
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