Menkes Disease Mimicking Child Abuse.
Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse.
University of Massachusetts Medical School, Worcester, Massachusetts.
Rebecca J
RJ
Droms
Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.
Jillian F
JF
Rork
Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.
Riley
R
McLean
Division of Genomic Medicine, Department of Pediatrics, University of California Davis Medical Center, Sacramento, California.
Madelena
M
Martin
Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.|Division of Dermatology, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts.
Leah
L
Belazarian
Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.|Division of Dermatology, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts.
Karen
K
Wiss
D002649:Child Abuse / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004636:Emergency Service, Hospital; D005500:Follow-Up Studies; D000069076:Fractures, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D007234:Infant, Premature; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography / Q000379:methods; D018570:Risk Assessment