Congenital skull fracture as a presentation of Menkes disease

We report the rare presentation of Menkes disease with a congenital skull f racture, intracerebral bleeding, and seizures. The diagnosis was made at 3 months of age based on the characteristic features of the syndrome, by whic h time the child experienced uncontrollable seizures. Following progressive neurodegeneration, death occurred at 3 years of age. The prognosis in Menk es disease is dependent on early copper-histidine therapy. Effective treatm ent has led to children surviving into adulthood. Diagnosing the syndrome d uring the neonatal period is difficult. There are no published reports of c ongenital skull fracture as a presenting sign of Menkes disease. It is conc luded that Menkes disease should be considered in any child who presents wi th congenital skull fracture as early diagnosis and treatment significantly improve the outcome.