Menke's disease presenting with subdural fluid collection and fractures mimicking non-accidental injury

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. Diagnosis is often difficult to establish early in childhood. To report a case of Menkes disease who had subdural effusion and radiological evidence of previous fracture niimicking non-accidental injury. 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. Menkes disease maybe difficult to differentiate from Non-accidental injury especially when subdural effusion and fractures are present. High index of suspicion is needed to out rule Menlces disease