Menkes Disease Mimicking Child Abuse.

Autor: Droms RJ; University of Massachusetts Medical School, Worcester, Massachusetts., Rork JF; Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts., McLean R; Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts., Martin M; Division of Genomic Medicine, Department of Pediatrics, University of California Davis Medical Center, Sacramento, California., Belazarian L; 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., Wiss K; 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.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2017 May; Vol. 34 (3), pp. e132-e134. Date of Electronic Publication: 2017 Mar 20.
DOI: 10.1111/pde.13106
Abstrakt: 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.)
Databáze: MEDLINE
Externí odkaz: