Menke's kinky hair syndrome – A spectrum of clinico-radiological findings

Abstract

Menkes kinky hair syndrome is a fatal rare inherited neurodegenerative disease due to deranged copper metabolism. The manifestations begin after 2–3 months of life with developmental delay, intractable convulsions, typical facies and pili torti. Specific imaging findings which strongly point towards the diagnosis include symmetrical bony spurs around the knee joints, bladder diverticulas & brain atrophy with corkscrew tortuosity of intra & extracranial vessels. Low serum copper and ceruloplasmin are confirmatory for the disease. Here we present an interesting case with all classical findings of Menkes disease.