PDF(Pubmed)
Abstract：
This case report explores a unique presentation of hip dysplasia in a female patient aged 21 years old diagnosed with Charcot-Marie-Tooth disease (CMT) type 1A and multiple acyl-CoA dehydrogenase deficiency (MADD). The coexistence of these neuromuscular and metabolic disorders in a patient with hip dysplasia provides an opportunity to investigate their potential interactions and impact on diagnosis, treatment, and prognosis. The patient underwent labral repair with shelf osteotomy and later a total hip replacement. This case highlights the need for further research to better understand the relationships between CMT, MADD, neuromuscular dysplasia, and hip dysplasia. A deeper understanding of these interactions may lead to improved diagnostic techniques, earlier intervention, and personalized treatment approaches for patients with co-morbid conditions, ultimately improving patient outcomes and reducing complications later in life.
摘要：
该病例报告探讨了一名21岁的女性患者髋关节发育不良的独特表现，该患者被诊断为1A型Charcot-Marie-Tooth病（CMT）和多种酰基CoA脱氢酶缺乏症（MADD）。髋关节发育不良患者中这些神经肌肉和代谢紊乱的共存为研究它们的潜在相互作用和对诊断的影响提供了机会。治疗,和预后。该患者接受了通过架子截骨术进行的唇修复，然后进行了全髋关节置换术。这个案例强调了进一步研究的必要性，以更好地理解CMT之间的关系，MADD,神经肌肉发育不良,和髋关节发育不良.对这些相互作用的更深入的了解可能会导致诊断技术的改进，早期干预，以及为患有共病的患者提供个性化治疗方法，最终改善患者预后并减少以后生活中的并发症。
