Department of Orthopaedics, Kasturba Medical College Mangalore, Manipal Academy of Higher Education (MAHE), Manipal, Mangalore, Karnataka, India.
Kasturba Medical College Mangalore, Manipal Academy of Higher Education(MAHE), Manipal, Mangalore, Karnataka, India.
BMJ Case Rep. 2023 Jan 2;16(1):e252420. doi: 10.1136/bcr-2022-252420.
An adolescent girl came with swelling of both thighs with difficulty in walking for a few months. Based on clinical, and radiological evaluation and nerve conduction studies, she was diagnosed to be having bilateral hips Charcot's arthropathy due to hereditary sensory autonomic neuropathy type 4. Other common causes of Charcot arthropathy were ruled out. The patient was conservatively managed and parents were educated about preventive measures. Through this case report, we want to highlight the myriad number of manifestations and clinical presentations of a child presenting with hereditary sensory autonomic neuropathy type 4.
一名少女因双侧大腿肿胀伴行走困难数月就诊。根据临床、影像学评估和神经传导研究,她被诊断为双侧髋关节夏科氏关节炎,病因是遗传性感觉自主神经病 4 型。排除了夏科氏关节炎的其他常见病因。对患者采取了保守治疗,并对其父母进行了预防措施的教育。通过这个病例报告,我们想强调遗传性感觉自主神经病 4 型患儿表现出的多种症状和临床表现。