Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital
Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital
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与 IGHMBP2 新型复合杂合突变相关的 1 型呼吸窘迫脊髓性肌萎缩症：先天性脊髓性肌萎缩症病例的鉴别诊断
作者：
Yasui Y;Sato H;Niida Y;Kohno M
脊髓性肌萎缩伴呼吸窘迫1型（SMARD 1，OMIM# 604320）是一种罕见的运动神经元疾病，由免疫球蛋白μ结合蛋白2（IGHMBP2）基因的常染色体隐性突变引起（Grohmann et al. 2001）。SMARD 1的特征为需要机械通气的呼吸衰竭、初始远端和后来的全身性肌无力和自主神经功能障碍（Eckart et al. 2015）。我们提出了一个日本男孩与新的复合杂合突变IGHMBP2基因的情况。该患者出生于健康的非血缘关系的日本父母，妊娠38周，正常阴道分娩。出生时体重为2060 g。神经肌肉疾病家族史呈阴性。他在一个月大的时候出现了微弱的哭声。他随后出现呼吸窘迫和喂养困难，在2个月大时需要机械通气。透视显示右半侧横膈膜膨出，左半侧横膈膜不动。他被诊断为双侧先天性膈肌膨出（CDE），并转诊到我科。胸部X线检查显示右侧半横膈膜抬高（图1a），而重复透视检查显示左侧半横膈膜在呼吸时正确移动。我们认为他的症状是由于右CDE，并进行胸腔镜折叠右半隔膜。然而，尽管手术后右半横膈膜变平，
Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM# 604320) is a rare motor neuron disease caused by autosomal recessive mutations in the immunoglobulin mu binding protein 2 (IGHMBP2) gene (Grohmann et al. 2001). SMARD1 is characterized by respiratory failure requiring mechanical ventilation, initial distal and later generalized muscular weakness, and autonomic nerve dysfunction (Eckart et al. 2015). We present a case of a Japanese boy with novel compound heterozygous mutations in the IGHMBP2 gene. The patient was born to healthy non-consanguineous Japanese parents at 38 weeks gestation by normal vaginal delivery. His birth weight was 2060 g. The family history was negative for neuromuscular diseases. He manifested feeble crying at the age of 1 month. He subsequently developed respiratory distress and feeding difficulties and required mechanical ventilation by 2 months of age. Fluoroscopy showed eventration of the right hemi-diaphragm and immobility of the left hemi-diaphragm. He was diagnosed with bilateral congenital diaphragm eventration (CDE) and referred to our department. Chest X-ray showed that the right hemi-diaphragm was raised (Fig. 1a), while repeated fluoroscopy showed that the left hemi-diaphragm moved correctly on respiration. We considered his symptoms to be due to right CDE, and performed thoracoscopic plication of the right hemi-diaphragm. However, although the right hemidiaphragm was flattened after the procedure, his respiratory