■MIRAGE综合征是一种以骨髓增生异常为特征的罕见疾病,感染,生长限制,肾上腺发育不全,生殖器表型,和肠病。在这里,我们报道了一例MIRAGE综合征女孩,表现为肾上腺功能不全和慢性腹泻.
■患者出生时的胎龄为29+6周,出生体重为656g(<3p)。她的身高和头围也<3p。出生时,她出现了呼吸窘迫,胎粪染色,和纵隔肺炎,采用高频通气和经验性抗生素进行管理。体格检查显示广泛的色素沉着和正常的女性生殖器。出生后几天,出现多尿和低血压,实验室发现显示低血糖,低钠血症,和高钾血症.血浆促肾上腺皮质激素水平升高,血清皮质醇水平低,血浆肾素活性高,提示肾上腺功能不全。引入并维持了氢化可的松和氟氢可的松,色素沉着随着时间的推移而减弱。两个肾脏看起来发育不良,腹部超声无法追踪肾上腺。从生命的早期开始,检测到血小板减少和贫血,但没有达到危及生命的水平,并缓慢恢复到正常范围。尽管积极的营养支持,在住院期间,体重增加和生长突增严重受阻。此外,在引入肠内喂养后,她经历了严重的腹泻和随后的会阴皮疹和溃疡。粪便钙卫蛋白水平高度升高;然而,小肠活检导致非特异性粘膜下充血.患者诊断为MIRAGE综合征伴SAMD9基因突变。她继续接受管饲和基本配方喂养而出院,但慢性腹泻持续存在.在矫正年龄15个月的最后一次随访时,幸运的是,她没有遭受严重的侵袭性感染和骨髓增生异常综合征。然而,她依赖管饲,并表现出相当于约5-6个月大的严重发育迟缓。
■肾上腺危象的早期诊断和激素替代疗法可以挽救MIRAGE综合征患者的生命;然而,慢性顽固性腹泻和生长发育迟缓继续阻碍患者的健康。
MIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal
hypoplasia, genital phenotypes, and enteropathy. Herein, we report the
case of a girl with MIRAGE syndrome who presented with adrenal insufficiency and chronic diarrhea.
The patient was born at 29 + 6 weeks of gestational age with a birth weight of 656 g (<3p). Her height and head circumference were also <3p. At birth, she presented with respiratory distress, meconium staining, and pneumomediastinum, which were managed with high-frequency ventilation and empirical antibiotics. Physical examination showed generalized hyperpigmentation and normal female genitalia. A few days after birth, polyuria and hypotension developed, and laboratory findings revealed hypoglycemia, hyponatremia, and hyperkalemia. Plasma adrenocorticotropic hormone levels were elevated with low serum cortisol levels and high plasma renin activity, which were suggestive of adrenal insufficiency. Hydrocortisone and fludrocortisone were introduced and maintained, and hyperpigmentation attenuated with time. Both kidneys looked dysplastic, and adrenal glands could not be traced on abdominal ultrasound. From the early days of life, thrombocytopenia and anemia were detected, but not to life-threatening level and slowly recovered up to the normal range. Despite aggressive nutritional support, weight gain and growth spurt were severely retarded during the hospital stay. Additionally, after introducing enteral feeding, she experienced severe diarrhea and subsequent perineal skin rashes and ulcerations. Fecal calprotectin level was highly elevated; however, a small bowel biopsy resulted in non-specific submucosal congestion. The patient was diagnosed with MIRAGE syndrome with SAMD9 gene mutation. She was discharged with tube feeding and elemental formula feeding continued, but chronic diarrhea persisted. By the time of the last follow-up at 15 months of corrected age, she was fortunately not subjected to severe invasive infection and myelodysplastic syndrome. However, she was dependent on tube feeding and demonstrated a severe developmental delay equivalent to approximately 5-6 months of age.
The early diagnosis of adrenal crisis and hormone replacement therapy can save the life of -patients with MIRAGE syndrome; however, chronic intractable diarrhea and growth and developmental delay continue to impede the patient\'s well-being.