Chaclas Nathan, Hall Carter E, Yum Sabrina, Seeley Mark, Sankar Wudbhav N
Department of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
J Pediatr Soc North Am. 2024 Jul 1;8:100078. doi: 10.1016/j.jposna.2024.100078. eCollection 2024 Aug.
Charcot-Marie-Tooth (CMT) hip disease is poorly understood, in part because the associated neuropathy may obfuscate symptoms, and little data exist to guide management or potential screening programs. The purpose of this study was to report our CMT hip experience from a single large tertiary care institution.
A retrospective review of all patients diagnosed with CMT disease was performed after approval from our center's institutional review board. Patient demographic data were gathered from the electronic medical record. Patient presentation and physical exam findings were recorded, and all available radiographic imaging were reviewed for signs of hip pathology. When performed, details of surgical treatment were recorded. Descriptive statistics were performed to summarize pathology, characteristics, and procedural outcomes.
We identified 358 patients diagnosed with CMT, of which 96 patients (27%) had imaging of their hips. Of this subcohort, 20 (21%) had evidence of acetabular dysplasia (AD). This subcohort of CMT patients with confirmed AD was referred to orthopaedics at a mean age of 11 ± 6 years. Diagnosis of AD in CMT patients was most common between the ages of 10 and 16. Treatment often consisted of complete redirectional acetabular osteotomy. At a mean follow-up of 33 ± 28 months, symptomatic resolution was achieved in all but 2 hips (88%) with no significant complications.
In our series, the incidence of AD among CMT patients with hip imaging was 21%. CMT patients were diagnosed with AD at 11 ± 6 years old, most commonly between the ages of 10 and 16. While the clinical presentation and age at presentation were variable, surgery (typically a complete redirectional osteotomy ± femoral derotation osteotomy) was generally successful, with the majority of patients achieving symptomatic resolution and a low complication rate at final follow-up.
(1)Charcot-Marie-Tooth (CMT) hip disease is poorly understood.(2)This study sought to report the rate of diagnosis and management of acetabular dysplasia in a CMT pediatric patient population at a single large tertiary care center.(3)While clinical presentation and age were variable, surgery was generally successful in the management of CMT hips.
Level IV: case series.
夏科-马里-图思病（CMT）相关的髋关节疾病目前了解较少，部分原因是相关的神经病变可能会掩盖症状，而且几乎没有数据可用于指导治疗或潜在的筛查项目。本研究的目的是报告我们在一家大型三级医疗机构中CMT髋关节疾病的治疗经验。
在获得本中心机构审查委员会批准后，对所有诊断为CMT疾病的患者进行回顾性研究。从电子病历中收集患者的人口统计学数据。记录患者的临床表现和体格检查结果，并对所有可用的影像学检查进行审查，以寻找髋关节病变的迹象。手术治疗的详细情况（如有）也被记录下来。进行描述性统计以总结病理、特征和手术结果。
我们确定了358例诊断为CMT的患者，其中96例（27%）进行了髋关节影像学检查。在这个亚组中，20例（21%）有髋臼发育不良（AD）的证据。这个确诊为AD的CMT患者亚组平均在11±6岁时被转诊至骨科。CMT患者中AD的诊断最常见于10至16岁之间。治疗通常包括完全重新定向髋臼截骨术。平均随访33±28个月后，除2例髋关节（88%）外，其余所有髋关节症状均得到缓解，且无明显并发症。
在我们的系列研究中，接受髋关节影像学检查的CMT患者中AD的发生率为21%。CMT患者确诊AD的年龄为11±6岁，最常见于10至16岁之间。虽然临床表现和发病年龄各不相同，但手术（通常是完全重新定向截骨术±股骨旋转截骨术）总体上是成功的，大多数患者在最终随访时症状得到缓解，并发症发生率较低。
（1）对夏科-马里-图思病（CMT）相关的髋关节疾病了解较少。（2）本研究旨在报告一家大型三级医疗中心CMT儿科患者人群中髋臼发育不良的诊断率和治疗情况。（3）虽然临床表现和年龄各不相同，但手术在CMT髋关节疾病的治疗中总体上是成功的。
四级：病例系列研究。
