Hip Dysplasia in Patients with Charcot-Marie-Tooth Disease: Unraveling an Underrecognized Condition

Abstract

Background: 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. Methods: 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. Results: 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. Conclusions: 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. Key Concepts: (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 of Evidence: Level IV: case series

Keywords

• Charcot-Marie-Tooth
• Acetabular dysplasia
• Developmental dysplasia of the hip