Citation

Droms RJ, Rork JF, McLean R, Martin M, Belazarian L, Wiss K. Pediatr. Dermatol. 2017; 34(3): e132-e134.

Affiliation

Division of Dermatology, Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts.

Copyright

(Copyright © 2017, John Wiley and Sons)

DOI

10.1111/pde.13106

PMID

28318055

Abstract

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.

© 2017 Wiley Periodicals, Inc.

Language: en