目的　探讨CRYAB基因变异相关致命性婴儿型肥大型肌原纤维肌病的临床特点及预后。方法　回顾分析 2例致命性婴儿型肥大型肌原纤维肌病患儿的临床资料，并结合文献复习。结果　2例患儿均为男性，发病年龄分别为 3个月和8个月，均表现为躯干肌肉僵硬，限制性呼吸困难。血肌酸激酶升高，血、尿筛查无显著异常。彩色多普勒超声 心动图未见异常。MRI示腹壁肌肉、大腿肌肉等骨骼肌增厚。肌电图示肌强直电位。 1例患儿行肌活检示肌源性损害。 2 例患儿基因检测均显示CRYAB基因c.3G>A的纯合核苷酸变异，受检者父母均为杂合子；DMPK型基因均未见异常。 结论　躯干肌肉强直引起限制性呼吸困难时应行基因检查和肌肉活检，需排除CRYAB基因变异相关致命性婴儿型肥 大型肌原纤维肌病。

Objectives　To explore the clinical characteristics and prognosis of CRYAB gene related fatal infantile fattening myofibrillar myopathy. Methods　The clinical data of two cases admitted to PICU diagnosed as fatal infantile fattening myofibrillar myopathy by genetic test was retrospectively analyzed, and related literature were reviewed. Results　Two male patients presented with rigid muscles and respiratory insufficiency with onset aged at 3 and 8 months old, respectively. Cardiac ultrasound showed normal and serum creatine kinase were elevated in 2 cases. MRI showed thickening of abdominal muscle and thigh muscle, and trunk muscle stiffness was seen. Electromyogram shows muscle tetanus potential. Muscle biopsy of one case revealed myogenic damage. Gene testing in both cases identify homozygous nucleotide variation of c.3G>A in CRYAB gene. DMPK genes test were normal. Blood and urine screening showed no significant abnormalities. Conclusions　CRYAB gene related fatal infantile fattening myofibrillar myopathy is rare and mainly manifested as muscular rigidity leading to dyspnea, which is different from other neuromuscular diseases. Patients with restrictive dyspnea due to muscular rigidity of the trunk should be vigilant and undergo genetic examination and muscle biopsy.