Bilgin Huseyin, Ayaz Ercan
Department of Pediatrics, Division of Metabolism, Diyarbakir Children's Hospital, Diyarbakir, Turkey.
Department of Radiology, Diyarbakir Children's Hospital, Diyarbakir, Turkey.
Clin Imaging. 2024 Jan;105:110018. doi: 10.1016/j.clinimag.2023.110018. Epub 2023 Nov 10.
Our aim is the early detection of mucopolysaccharidosis (MPS) by examining the radiographs taken for reasons other than a metabolic disease, such as infection, trauma, and short stature.
The radiographs of children who applied to outpatient and emergency clinics in our hospital between 01/01/2022 and 31/12/2022 were examined by a pediatric radiologist retrospectively without knowledge of patient information. The MPS enzyme panel and urine glycosaminoglycan analysis were performed in patients having dysostosis multiplex on radiographs. In cases with MPS detected by enzyme and urine analysis, the definitive diagnosis was confirmed by genetic analysis.
Skeletal radiographs of 15.104 cases admitted to our hospital were examined (11,270 chest x-ray, 314 lumbosacral spine x-ray, 2970 hand x-ray, 253 pelvis x-ray, 162 skull x-ray, and 135 complete skeletal surveys). In 67 children, dysostosis multiplex was observed in the skeletal X-ray. Among them, seven newly diagnosed MPS cases were detected. Three cases were diagnosed with MPS type 4A, two with MPS type 6, one with MPS type 2 and one with MPS type 3B. Age at diagnosis was 46.2 ± 30.6 months (range; 20-111 months). There was a history of consanguinity in 6 (85.7%) cases.
Radiographs can provide clues for diagnosing MPS before the clinical findings become prominent in children admitted to the hospital for other complaints. Therefore, X-ray screening can be performed on children in endemic regions of MPS to search for dysostosis multiplex.
我们的目标是通过检查因感染、创伤和身材矮小等非代谢性疾病原因拍摄的X线片，早期发现黏多糖贮积症（MPS）。
回顾性分析2022年1月1日至2022年12月31日期间到我院门诊和急诊就诊的儿童的X线片，由儿科放射科医生在不知道患者信息的情况下进行检查。对X线片显示有多发骨发育异常的患者进行MPS酶谱分析和尿糖胺聚糖分析。对于通过酶和尿液分析检测出MPS的病例，通过基因分析确诊。
检查了我院收治的15104例患者的骨骼X线片（11270例胸部X线片、314例腰骶椎X线片、2970例手部X线片、253例骨盆X线片、162例颅骨X线片和135例完整骨骼检查）。在67名儿童的骨骼X线片中观察到多发骨发育异常。其中，检测出7例新诊断的MPS病例。3例被诊断为4A型MPS，2例为6型MPS，1例为2型MPS，1例为3B型MPS。诊断时的年龄为46.2±30.6个月（范围：20 - 111个月）。6例（85.7%）有近亲结婚史。
对于因其他疾病入院的儿童，在临床症状出现之前，X线片可为诊断MPS提供线索。因此，可对MPS流行地区的儿童进行X线筛查，以寻找多发骨发育异常。
