Peng Chia-Huei, Hsu Chyong-Hsin, Wang Nien-Lu, Lee Hung-Chang, Lin Shuan-Pei, Chan Wai-Tao, Yeung Chun-Yan, Jiang Chuen-Bin
Department of Pediatric Gastroenterology, Hepatology and Nutrition Department of Neonatology Department of Pediatric General Surgery and Urology Department of Genetics and Metabolism, MacKay Children's Hospital, Taipei Department of Medicine, MacKay Medical College, New Taipei City Division of Biochemical Genetics, Department of Medical Research, MacKay Memorial Hospital Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Medicine (Baltimore). 2018 Feb;97(6):e9869. doi: 10.1097/MD.0000000000009869.
Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Intracranial hemorrhage secondary to tortuous intracranial arteries is a well-known complication of MD, but spontaneous retroperitoneal hemorrhage, to the best of our knowledge, has never been reported in a patient with MD. Herein, we describe the first case of retroperitoneal hematoma as a complication of MD in a 4-year-old boy.
A 4-year-old Taiwanese male patient with MD was referred to the hospital and presented with a palpable epigastric mass.
On the basis of the findings of ultrasonography and enhanced computed tomography, the diagnosis was retroperitoneal hematoma.
Interventions included laparotomy with evacuation of the hematoma, manual compression, and suture of the bleeding vessels.
There were no postoperative complications.
This case emphasizes that bleeding in patients with MD is possible at any site in the body owing to the unstable structure of the connective tissues. Timely diagnosis with proper imaging studies can lead to prompt and appropriate management and save patients from this life-threatening condition.
门克斯病（MD），也称为门克斯卷发综合征，是一种由铜代谢缺陷引起的致命性神经退行性疾病。其症状累及多个器官系统，如大脑、肺、胃肠道、泌尿道、结缔组织和皮肤。目前尚无治愈该疾病的方法，典型MD患者通常在6个月至3岁之间死于并发症。颅内动脉迂曲继发颅内出血是MD的一种常见并发症，但据我们所知，MD患者自发性腹膜后出血从未有过报道。在此，我们报告首例4岁男性MD患者并发腹膜后血肿的病例。
一名4岁患MD的台湾男性患者被转诊至我院，表现为上腹部可触及肿块。
根据超声和增强计算机断层扫描结果，诊断为腹膜后血肿。
干预措施包括剖腹探查清除血肿、手动压迫和缝合出血血管。
术后无并发症。
该病例强调，由于结缔组织结构不稳定，MD患者身体任何部位都可能出血。通过适当的影像学检查及时诊断可实现及时、恰当的治疗，使患者摆脱这种危及生命的状况。
