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Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia
Molecular Syndromology ( IF 1.1 ) Pub Date : 2020-09-16 , DOI: 10.1159/000510171
Dogus Vuralli , Can Kosukcu , Ekim Taskiran , Pelin Ozlem Simsek-Kiper , Gulen Eda Utine , Koray Boduroglu , Ayfer Alikasifoglu , Mehmet Alikasifoglu

Several endocrine disorders have been defined in patients with Costello syndrome (CS). In this report, we describe a patient with CS accompanied by a clinical picture of hyperinsulinemic hypoglycemia responsive to diazoxide treatment. A 41-day-old female patient with a birth weight of 3,600 g was referred for atypical facial features and swallowing dysfunction. She had a weight of 4,000 g (−0.8 SDS), a length of 50 cm (−2.4 SDS), and a head circumference of 38 cm (0.2 SDS). The clinical findings were suggestive of a genetic syndrome, mainly a RASopathy or Beckwith-Wiedemann syndrome. Whole exome sequencing revealed a de novo heterozygous missense variant in the HRAS (NM_001130442) gene in exon 2: c.35G#x3e;C; p.(Gly12Ala), establishing the molecular diagnosis of CS. The patient developed symptomatic hypoglycemia (jitteriness and sweating) at the age of 13 months. The patient’s serum glucose was 38 mg/dL with simultaneous serum insulin and C-peptide levels, 2.8 μIU/mL and 1.8 ng/mL, respectively. Hyperinsulinism was suspected, and an exaggerated glucose response was detected in a glucagon test. Blood glucose monitoring indicated episodes of fasting hypoglycemia and postprandial hyperglycemia. Diazoxide of 10 mg/kg/day was initiated in 3 doses for hyperinsulinemic hypoglycemia, which resolved without new episodes of postprandial hyperglycemia. The patient deceased at the age of 17 months due to cardiorespiratory failure in the course of severe pneumonia complicated with pulmonary hypertension and hypertrophic cardiomyopathy. Several genetic syndromes including CS are associated with endocrinologic manifestations including abnormal glucose homeostasis. Although the frequency and underlying mechanisms leading to hyperinsulinemic hypoglycemia are yet unknown, hypoglycemia in CS responds well to diazoxide.
Mol Syndromol


中文翻译:

科斯特洛综合征患者的高胰岛素低血糖:低血糖的病因

在Costello综合征(CS)患者中已经定义了几种内分泌疾病。在本报告中,我们描述了CS患者并伴有对二氮嗪治疗有反应的高胰岛素低血糖的临床情况。一名出生体重为3600 g的41天女性患者因非典型面部特征和吞咽功能障碍而被转诊。她的体重为4,000克(-0.8 SDS),长度为50厘米(-2.4 SDS),头围为38厘米(0.2 SDS)。临床发现提示遗传综合征,主要是RAS病或Beckwith-Wiedemann综合征。整个外显子组测序揭示了HRAS中的从头杂合错义变异(NM_001130442)外显子2中的基因:c.35G#x3e; C; p。(Gly12Ala),建立CS的分子诊断。患者在13个月大时出现症状性低血糖症(抖动和出汗)。患者的血清葡萄糖为38 mg / dL,同时血清胰岛素和C肽水平分别为2.8μIU/ mL和1.8 ng / mL。怀疑有高胰岛素血症,在胰高血糖素试验中检测到葡萄糖反应过度。血糖监测表明有空腹低血糖和餐后高血糖发作。高剂量低血糖的3种剂量开始使用10 mg / kg / day的二氮嗪,该剂量在餐后高血糖没有新发作的情况下得以解决。该患者在重症肺炎并发肺动脉高压和肥厚型心肌病的过程中因心肺衰竭而于17个月大时去世。包括CS在内的几种遗传综合征与包括异常葡萄糖稳态在内的内分泌学表现有关。尽管尚不清楚导致高胰岛素性低血糖的频率和潜在机制,但CS中的低血糖对二氮嗪反应良好。
摩尔综合症
更新日期:2020-09-16
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