We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.
Human ; Male ; Female ; Adult ; Infant ; MENKES KINKY HAIR SYNDROME ; NERVOUS SYSTEM DISEASES ; CENTRAL NERVOUS SYSTEM DISEASES ; BRAIN DISEASES ; BRAIN DISEASES, METABOLIC ; BRAIN DISEASES, METABOLIC, INBORN ; CERULOPLASMIN ; COPPER