Menkes syndrome presenting as possible child abuse

Menkes syndrome, also known as kinky-hair disease, is a rare X-linked recessive, lethal, neurodegenerative disorder of impaired copper transport. The disorder typically is characterized by fine, hypopigmented, wiry hair; doughy skin; bone and connective-tissue disturbances; vascular abnormalities that can result in spontaneous hemorrhaging; and progressive neurologic deterioration. These early findings often are easily confused with child abuse. We report a case of a 6-month-old boy with Menkes syndrome whose symptoms originally were thought to be from child abuse.