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Congenital skull fracture as a presentation of Menkes disease

  • Tim Ubhi (a1), Ashley Reece (a2) and Adam Craig (a3)

Abstract

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

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Corresponding author

University Department of Paediatrics, St James' University Hospital, Beckett Street, Leeds, LS9 7TF, UK. E-mail: medbsu@leeds.ac.uk

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