Menkes kinky hair disease: characteristic MR angiographic findings.

Cerebral 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...

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The initi...

Is kinky-hair disease a misnomer for Menkes syndrome?

Correction of cerebrospinal fluid copper in Menkes kinky hair disease.

A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid. This tends to confirm the in vitro data that copper is transported into the central nervous system complexed with histidine or other similar ligands.

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 ...