منابع مشابه
Menkes kinky hair disease: A case report
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...
متن کاملMenkes kinky hair disease (Menkes syndrome). A case report.
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
متن کاملMenkes kinky hair disease : A case report Asok
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...
متن کاملMenkes' Kinky Hair disease: new considerations.
Kinky hair disease (KHD) was first described by Menkes et al.(1). Ten years later Danks et al. suggested that the primary defect is in copper transport leading to copper deficiency(2). It is a Xlinked recessive disorder. The gene for KHD is about 200 kb in size and is located on the long arm of X chromosome (Xql3.3). The cDNA has been recently sequenced and is known to code for a protein of 150...
متن کاملCerebral MR of Menkes kinky-hair disease.
Menkes kinky-hair disease (trichopoliodystrophy, steelyhair disease) is an X-linked neurodegenerative disorder that occurs predominantly in males. It was first described by Menkes in 1962 [1]. The characteristic clinical features are steely hair, profound retardation, spastic quadriparesis, seizures, and hypothermia. The disease is caused by an underlying defect of copper metabolism; and the se...
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ژورنال
عنوان ژورنال: Cases Journal
سال: 2008
ISSN: 1757-1626
DOI: 10.1186/1757-1626-1-158