Abstract：
Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis. The histopathological examination shows the presence of rod-like structures or nemaline bodies in muscles. Management remains mainly supportive, and currently, there is no available curative treatment. This case report describes an infant presenting with gross hypotonia, poor handling of secretions and multiple extubation failures who was diagnosed by clinical exome sequencing. The patient harboured compound heterozygous variants in the NEB gene suggestive of nemaline rod myopathy. The newborn showed significant improvement in muscle strength after he was started on dietary L-tyrosine supplementation. This case highlights the emerging role of L-tyrosine in the supportive care of infants with nemaline rod myopathy.
摘要：
神经棒肌病是一种极为罕见的肌肉疾病，可导致婴儿肌张力低下和肌肉力量差。该疾病具有不同年龄的表型表现，范围从新生儿到成人发病，从严重到无症状的品种。临床特征,肌肉活检和基因检测有助于诊断。组织病理学检查显示肌肉中存在杆状结构或线虫体。管理层仍然主要支持，目前,没有可用的治疗方法。这个病例报告描述了一个婴儿出现了巨大的低张力,通过临床外显子组测序诊断的分泌物处理不良和多次拔管失败。患者在NEB基因中携带复合杂合变体，提示线虫杆状肌病。新生儿开始补充饮食L-酪氨酸后，肌肉力量显着改善。该病例强调了L-酪氨酸在线虫杆状肌病婴儿的支持性护理中的新兴作用。
