Akinseye Oyindamola N, Yazdani Rana, Tornow Kelly A, Reeder Kristen N, Clarke Rebekah L, Pfeifer Cory M
Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Radiol Case Rep. 2019 Jun 6;14(8):993-996. doi: 10.1016/j.radcr.2019.05.012. eCollection 2019 Aug.
Menkes disease is a rare X-linked recessive disorder caused by impaired copper absorption and transport. Presented here is a case of a 12-week-old male who presented with hypotonia and multiple metaphyseal fractures. Further imaging and workup revealed a diagnosis of Menkes disease. While nonaccidental trauma is a much more common cause of metaphyseal bone fractures, encephalopathy, and subdural hematomas in infants, Menkes syndrome should be considered in the setting of corroborating signs and symptoms, as early diagnosis and treatment can delay progression of the disease.
门克斯病是一种罕见的X连锁隐性疾病，由铜吸收和转运受损引起。本文介绍了一例12周大的男性病例，该患儿表现为肌张力减退和多处干骺端骨折。进一步的影像学检查和检查发现诊断为门克斯病。虽然非意外创伤是婴儿干骺端骨折、脑病和硬膜下血肿更常见的原因，但在有确凿的体征和症状的情况下应考虑门克斯综合征，因为早期诊断和治疗可以延缓疾病的进展。
