Introduction: Menkes' disease is a neurodegenerative disorder, recessive X chromosome linked (Xp13.3) that normally codify an ATPasa copper transporter.
Case reports: Case 1: patient exhibit failure in the gastrointestinal copper absorption, which is insufficient to cover the needing during the first twelve months of life. The first case was a 5 months male. His developmental skills were normal until he was 5 months old, when he exhibited visual impairment and failure to continue getting normal developmental skills. One month later he had infantile spasms and hypsarrhythmia in the EEG. He had kinky hair, alopecia zones and copper serum level in 0 microg/dL (range 590-1,180 microg/dL) brain CT scan revealed diffuse cortical atrophy. The patient is 5 years old now, he is free of seizures but he has a severe neurological impairment. Case 2: he is a 7 months old male who developed during the two days of life hypotonia and weak suction. He exhibited later hypertonia, delayed neurological development and infantile spasms, microcephaly, kinky hair, blindness and EEG pattern of hypsarrhythmia. The serum copper level was 84 microg/dL (range: 590-1,180 microg/dL). The brain CT scan showed generalized atrophy, including cerebellum, extradural effusion and MRI with multiple infarcts in different stages. Electronic microscopy revealed pili torti. In both cases the diagnosis was suspected because of the hair and eyebrow features.
Conclusions: We suggest a careful hair and eyebrow clinical exam in those patients with delayed milestones and early epilepsy without a documented etiology, and the copper serum level determination in those patients with suspected disease.