title: Menkes syndrome presenting as possible child abuse.
abstract: 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.
authors.affiliation: Geisinger Medical Center, Danville, Pennsylvania 17822-5206, USA.
authors.forename: Hyland
authors.initials: H
authors.lastname: Cronin
authors.forename: Jacqueline Nicole
authors.initials: JN
authors.lastname: Fussell
authors.forename: Howard
authors.initials: H
authors.lastname: Pride
authors.forename: Paul
authors.initials: P
authors.lastname: Bellino
mesh_terms: D002649:Child Abuse / Q000175:diagnosis*; D003951:Diagnostic Errors; D006801:Humans; D007223:Infant; D020300:Intracranial Hemorrhages / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D012008:Recurrence