Droms Rebecca J, Rork Jillian F, McLean Riley, Martin Madelena, Belazarian Leah, Wiss Karen
University of Massachusetts Medical School, Worcester, Massachusetts.
Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.
Pediatr Dermatol. 2017 May;34(3):e132-e134. doi: 10.1111/pde.13106. Epub 2017 Mar 20.
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.
尽管门克斯病具有公认的神经、发育和皮肤特征，但其最初表现可能类似虐待儿童。我们描述了一名5个月大的男孩，有多处骨折提示非意外创伤，最终被诊断为门克斯病。铜缺乏会导致结缔组织异常，并可能导致硬膜下血肿、缝间骨、颈椎缺陷、肋骨骨折和长骨骨骺骨刺形成。其中一些表现，包括骨折和硬膜下血肿，可能被误诊为虐待儿童。
