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Menkes Disease Mimicking Child Abuse
Author(s) -
Droms Rebecca J.,
Rork Jillian F.,
McLean Riley,
Martin Madelena,
Belazarian Leah,
Wiss Karen
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13106
Subject(s) - medicine , child abuse , menkes disease , presentation (obstetrics) , pediatrics , disease , pathology , poison control , surgery , injury prevention , copper metabolism , medical emergency , chemistry , organic chemistry , copper
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.