Abstract
Menkes kinky hair disease is an X-linked recessive multisystem disorder which mainly involves a central nervous system and usually presents in early infancy. The underlying defect is in copper metabolism leading to impaired function of copper-dependent enzymes. Diagnosis is confirmed by low level of serum copper and serum ceruloplasmin. Classical disease is associated with poor prognosis. Hereby, we report a classical case of Menkes kinky hair disease with characteristic clinical as well as laboratory findings and radiological features. We are reporting this case because of its early presentation.
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