Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the INSR gene. We report the case of a 29-year-old pregnant woman, primigravida, who was referred at 33 weeks of gestation for severe intrauterine growth restriction (IUGR). Ultrasound examination found severe IUGR associated with an obstructive hypertrophic cardiomyopathy (HCM), confirmed postnatally. The newborn’s blood glucose level fluctuated from fasting hypoglycemia to postprandial hyperglycemia. The infant was found to be homozygous for a novel missense pathogenic variant, c.632C#x3e;T (p.T211l), in exon 2 of the INSR gene, predicted to result in an abnormal insulin receptor. To our knowledge, this is the first report of leprechaunism being revealed by IUGR and HCM during the prenatal period. Clinicians should keep in mind that the association of these prenatal signs could indicate leprechaunism and specific early neonatal management could be proposed, in particular with recombinant human insulin-like growth factor-I.
Mol Syndromol

中文翻译：

---

宫内生长受限和肥厚性心肌病作为妖精病一例产前超声检查结果

Donohue综合征（妖精症； OMIM * 246200）是由INSR基因突变引起的罕见且常致死的常染色体隐性遗传疾病。我们报道了一名29岁孕妇primigravida的病例，该妇女在妊娠33周时因严重的宫内生长受限（IUGR）而被转诊。超声检查发现严重的IUGR与梗阻性肥厚型心肌病（HCM）有关，在出生后得到确认。新生儿的血糖水平从空腹低血糖变化为餐后高血糖。婴儿被认为是纯合的一个新的错义致病变种，c.632C＃x3e; T（p.T211l），在外显子2 INSR基因，预计会导致胰岛素受体异常。据我们所知，这是IUGR和HCM在产前发现的关于妖精症的第一份报告。临床医生应谨记，这些产前体征的关联可能表明存在妖精症，并可能提出了特定的早期新生儿管理方法，特别是重组人胰岛素样生长因子-I。
摩尔综合症