关键词: Genetics Home care nursing Neurology Neuromuscular disease Orthopaedic and trauma surgery

Mesh : Female Adolescent Humans Child Peripheral Nervous System Diseases / complications Hereditary Sensory and Autonomic Neuropathies Radiography Arthropathy, Neurogenic / diagnostic imaging etiology Hip Joint / diagnostic imaging

来  源:   DOI:10.1136/bcr-2022-252420   PDF(Pubmed)

Abstract:
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.
摘要:
一个青春期的女孩两个大腿肿胀,行走了几个月。基于临床,放射学评估和神经传导研究,由于遗传性感觉自主神经病变4型,她被诊断患有双侧髋部Charcot关节病。排除了Charcot关节病的其他常见原因。对患者进行了保守管理,并对父母进行了有关预防措施的教育。通过这个案例报告,我们想强调表现为遗传性感觉自主神经病变类型4的儿童的无数表现和临床表现。
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