Authors: Puneet Jain Suvasini Sharma Naveen Sankhyan Rachna Sehgal Atin Kumar Madhulika Kabra Sheffali Gulati
Publish Date: 2012/06/15
Volume: 80, Issue: 2, Pages: 160-162
Abstract
Menkes disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7A gene Its clinical course is characterized by early neurological regression seizures hypotonia and kinky friable hair Neuroimaging typically reveals severe brain atrophy with subdural fluid collections and excessive tortuosity of cerebral arteries The authors describe a case of Menkes disease with unusual imaging findings The patient had macrocephaly and symmetrical bilateral confluent white matter changes with temporal cystic areas reminiscent of megalencephalic leukodystrophy
Keywords: