■这个案例突出了诊断Bethlem肌病的挑战,需要高度怀疑,以及认识到这种罕见疾病的各种临床表现的重要性。加强理解可以帮助早期诊断和定制管理。
■Bethlem肌病(BM),一种罕见的胶原VI相关肌病,以进行性肌肉无力和挛缩为特征,通常影响近端肌肉和关节。这个病例报告介绍了一个来自德黑兰的15岁女孩,伊朗,有5年严重肢体疼痛和进行性虚弱的病史。出生在近亲的父母,患者表现出延迟的步行里程碑和明显的低张力,导致蹒跚的步态和腰椎过度前凸.神经系统检查显示明显的近端下肢无力,一个积极的Gowers\'标志,和缺乏肌反射。肌酸磷酸激酶(CPK)水平升高和肌电图(EMG)结果提示肌病,而神经传导研究显示无神经病变。遗传检测揭示了c.385C>T的新型纯合变体(p。Arg129Cys)在COL6A2基因中,根据美国医学遗传学和基因组学学院(ACMG)指南,由于其稀有性和特定的表型关联,将其归类为不确定意义变体(VUS)。鉴别诊断对于将其与其他神经肌肉疾病区分开来至关重要。管理主要侧重于症状缓解和提高患者的生活质量。这个案例凸显了诊断BM的挑战,需要高度怀疑,以及认识到这种罕见疾病的各种临床表现的重要性。加强理解可以帮助早期诊断和定制管理。
UNASSIGNED: This case highlights the challenges in diagnosing Bethlem myopathy, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management.
UNASSIGNED: Bethlem myopathy (BM), a rare collagen VI-related myopathy, is characterized by progressive muscle weakness and contractures, typically affecting the proximal muscles and joints. This case report presents a 15-year-old girl from Tehran, Iran, with a 5-year history of severe limb pain and progressive weakness. Born to consanguineous parents, the patient displayed delayed walking milestones and significant hypotonia, leading to a waddling gait and lumbar hyperlordosis. Neurological examination revealed marked proximal lower limb weakness, a positive Gowers\' sign, and absent myotatic reflexes. Elevated creatine phosphokinase (CPK) levels and electromyography (EMG) results indicated myopathy, while nerve conduction studies showed no neuropathy. Genetic testing revealed a novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene, classified as a variant of uncertain significance (VUS) per American College of Medical Genetics and Genomics (ACMG) guidelines due to its rarity and specific phenotype association. Differential diagnosis is essential to distinguish it from other neuromuscular conditions. Management primarily focuses on symptom relief and enhancing patients\' quality of life. This case highlights the challenges in diagnosing BM, the need for a high index of suspicion, and the importance of recognizing the diverse clinical presentations of this rare condition. Enhanced understanding can aid in early diagnosis and tailored management.