Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome

Abstract

Introduction: Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome.

Case report: We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.

Discussion: This case emphasises that Menkes disease, like glutaric aciduria type 1, should be included in the differential diagnosis of unexplained subdural haematomas and neurological deficits in infants.