Supplementary Material for: A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. This report describes heat stroke and rhabdomyolysis caused by anhidrosis as a symptom of MIRAGE syndrome in a small-for-gestational-age (SGA) female neonate born at 32 weeks of gestation (birth weight, 911 g [−3.8 SD]). She developed severe temperature instability with anhidrosis, growth failure, mild developmental delay, hypothyroidism, and intractable enteropathy. On day 156, her temperature reached 42.0°C; her fever persisted for 2 h with prolonged irritability. Her serum creatine kinase level increased to a peak value of 12,716 (normal range, 43–321) IU/L. The clinical feature was diagnosed as rhabdomyolysis caused by heat stroke, which resulted from physical exertion with anhidrosis. Her <i>SAMD9</i> variant was c.2945G&gt;A, p. (Arg982His). Neonatologists should be aware of MIRAGE syndrome as a differential diagnosis of SGA with temperature instability.

MIRAGE综合征（MIRAGE syndrome）以骨髓增生异常、感染、生长受限、肾上腺发育不全、生殖器表型及肠病为典型临床特征。本报告记述1例孕32周娩出的小于胎龄儿（small-for-gestational-age, SGA）女性新生儿，出生体重911g [-3.8标准差]，其因无汗症引发的中暑及横纹肌溶解症，为MIRAGE综合征的临床表现之一。该患儿出现严重体温不稳定、无汗、生长发育迟缓、轻度发育延迟、甲状腺功能减退症及难治性肠病。出生后第156日，患儿体温升至42.0℃，发热持续2小时，伴持续烦躁不安。其血清肌酸激酶水平峰值达12716 IU/L（正常参考范围43~321 IU/L）。经诊断，该临床表型为无汗症导致体力活动诱发中暑进而引发的横纹肌溶解症。患儿携带SAMD9基因（SAMD9）c.2945G>A突变，即p.(精氨酸982组氨酸)。新生儿科医师应警惕将MIRAGE综合征作为伴体温不稳定的小于胎龄儿的鉴别诊断之一。