By Gary M. White, MD
Menkes Disease (MD) is a lethal X-linked disorder of copper metabolism with many features including abnormal hair, epilepsy and early death.
- Think of MD in the male neonate with recalcitrant epilepsy.
- Death usually occurs by three years of age.
- The hair is short, scanty and hypopigmented. Pili tort may be found.
- Researchers early on noticed a similarity of the hair of a patient with Menkes disease to the brittle wool of Australian sheep raised in areas with copper-deficient soil.
- The cause is a mutation in the ATP7A gene on X-chromosome. This gene encodes a copper-transporting P-type ATPase. DNA diagnosis and even prenatal diagnosis is possible.
- Female patients with Menkes disease have been reported, in whom chromosome rearrangement, XO/XX mosaicism, or unfavorable lyonization was associated.
The hair is almost always hypopigmented at presentation. It is often short and fragile. By 1-2 years of age, it may become coarse and twisted (kinky hair). Pili torti may be found.
The classic presentation is global developmental delay and refractory seizures in the infant 3 months of age or less. Mental and physical retardation and death may occur before 3 years of age. Low serum copper and ceruloplasmin are found.
See fragile hair.
Anti-convulsant treatment should be provided. The prognosis is poor with eventual death within the first few years of life. Early initiation of copper therapy as well as the potential for gene therapy may provide some hope.
A seven-month-old boy was referred for sparse, hypopigmented, abnormal scalp hair growth since birth. The child had an abnormally large head at birth. He experienced myoclonic jerks and hypotonia since three months of age. There also was delay in attaining developmental millestones such as recognition of mother, head control, social smile, or roll-over response. Dermatology Online Journal 18(11)
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