Case Report: Menke’s Disease Presenting with Subdural Fluid Collection and Fractures Mimicking Non-Accidental Injury, EBTESSAM
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- Category: Vol. 77, June 2009
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Case Report: Menke’s Disease Presenting with Subdural Fluid Collection and Fractures Mimicking Non-Accidental Injury, EBTESSAM EL-MELEGY and SARAR MOHAMAD
Abstract
Menkes disease is a rare X-linked disorder resulting from a defect in the copper metabolism. Clinical features include seizure, developmental delay and hair changes. Fracture with callus formation is not uncommon in Menkes disease. Diag-nosis is often difficult to establish early in childhood.
Aims: To report a case of Menkes disease who had subdural effusion and radiological evidence of previous fracture mim-icking non-accidental injury.
Case Report: A male infant born to consanguineous parents. He developed intractable seizures at 6 weeks. Clinical examination revealed macrocephaly, gray iris, absent eyebrows, divergent squint, sparse, thin, hypo pigmented, and kinky hair. MRI brain showed massive bilateral subdural fluid collection. Skeletal survey revealed perosteal reaction and callus formation with evidence of old fracture of the left and right humerus. Family and social history disputed child abuse. Serum copper and cerloplasmin were persistently low.
Conclusion: Menkes disease may be difficult to differen-tiate from Non-accidental injury especially when subdural effusion and fractures are present. High index of suspicion is needed to out rule Menkes disease.