Menkes kinky hair disease (Menkes syndrome). A case report.

MENKES\' SYNDROME: REPORT OF A CASE

An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.

Menkes kinky hair disease: characteristic MR angiographic findings.

We report two cases of Menkes kinky hair disease in which MR and MR angiography were performed. The clinical and imaging features are reviewed. MR demonstrated characteristic cerebrovascular tortuousity and thus may be a valuable aid in diagnosis and follow-up.

Is kinky-hair disease a misnomer for Menkes syndrome?

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...

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visi...