Menkes Disease Mimicking Child Abuse

Rebecca J. Droms, Jillian F. Rork, Riley McLean, Madelena Martin, Leah Belazarian, Karen Wiss

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e132-e134
JournalPediatric Dermatology
Volume34
Issue number3
DOIs
StatePublished - May 1 2017

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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    Droms, R. J., Rork, J. F., McLean, R., Martin, M., Belazarian, L., & Wiss, K. (2017). Menkes Disease Mimicking Child Abuse. Pediatric Dermatology, 34(3), e132-e134. https://doi.org/10.1111/pde.13106