Menkes Disease: Report of Two Cases

Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It ischaracterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia,seizures and characteristic facial appearance with hair abnormalities.Case Presentation: We report on two cases of classical Menkes disease with typical history,(progressive psychomotor deterioration and seizures}, clinical manifestations (cherubic appearance,with brittle, scattered and hypopigmented scalp hairs), and progression. Light microscopicexamination of the hair demonstrated the pili torti pattern. The low serum copper content andceruloplasmin confirmed the diagnosis.Conclusion: Menkes disease is an under-diagnosed entity, being familiar with its manifestation andmaintaining high index of suspicion are necessary for early diagnosis.