Abstract：
MIRAGE syndrome is a rare multisystemic disorder characterized by various manifestations, such as myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. In the literature, there have been rare cases of dysautonomia. We present a 6.5-year-old girl, who was first admitted to our department with short stature. On follow up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement. Further investigations revealed recurrent moniliasis, low IgM levels, and transient monosomy 7 in the bone marrow. Whole exome sequencing revealed a heterozygous pathogenic variant of SAMD9 (c.2159del; p.Asn720ThrfsTer35). Additional complications observed during follow-up included medullary nephrocalcinosis, hypomagnesemia, hypermagnesiuria, hypophosphatemia, decreased glomerular filtration rate, and nephrotic proteinuria. The patient also developed hyperglycemia, which was managed with low-dose insulin. This case highlights the diagnostic challenges and the diverse phenotypic presentation observed in MIRAGE syndrome.
摘要：
MIRAGE综合征是一种罕见的多系统疾病，以各种表现为特征，比如骨髓增生异常,对感染的易感性，生长迟缓,肾上腺发育不全,生殖器异常,和肠病。在文学中,有罕见的自主神经障碍病例。我们介绍一个6.5岁的女孩，他第一次被我们系录取，身材矮小。在后续行动中，她表现出多种内分泌问题,包括暂时性甲状腺功能减退,原发性甲状旁腺功能减退和自主神经失调，以及多系统的参与。进一步的调查显示复发性念珠菌病，低IgM水平,和骨髓中的瞬时单体7。全外显子组测序揭示了SAMD9的杂合致病变体（c.2159del;p.Asn720ThrfsTer35）。随访期间观察到的其他并发症包括髓样肾钙化病，低镁血症,高镁尿,低磷酸盐血症,肾小球滤过率下降，和肾病性蛋白尿。患者还出现了高血糖症，用低剂量胰岛素治疗。该病例突出了在MIRAGE综合征中观察到的诊断挑战和多样化的表型表现。
