TY - JOUR PY - 2017// TI - Menkes disease mimicking child abuse JO - Pediatric dermatology A1 - Droms, Rebecca J. A1 - Rork, Jillian F. A1 - McLean, Riley A1 - Martin, Madelena A1 - Belazarian, Leah A1 - Wiss, Karen SP - e132 EP - e134 VL - 34 IS - 3 N2 - 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

LA - en SN - 0736-8046 UR - http://dx.doi.org/10.1111/pde.13106 ID - ref1 ER -