A case of neonatal persistent hyperinsulinemichypoglycemia

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche

article

Mauro Iannelli¹  Alessandra Li Pomi¹  Fabio Sippelli¹  A. Spagnolo¹  I. Rulli¹  Fortunato Lombrado¹  Malgorzata Gabriela Wasniewska²  Tommaso Aversa²  Eloisa Gitto¹ 

[1] Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina;Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina

关键词: hypoglycemia;    congenital;    hyperinsulinism;    diazoxide;   

DOI  :  10.13129/1828-6550/APMB.110.1.2022.CCS4

学科分类：农业科学（综合）

来源: Accademia Peloritana dei Pericolanti

【 摘 要 】

Neonatal hypoglycemia (NH) is a common and important cause of morbidity in newborns. The most common cause of NH is congenital hyperinsulinism (CHI), a phenotypical and genotypical heterogeneous condition characterized by inappropriate insulin secretion. In our case a male, AGA, newborn from vaginal delivery at 37-week gestation, with no risk factors in maternal history, presented with asymptomatic hypoglycemia (30 mg/dL) at 30 minutes after birth. He was subsequently admitted to the NICU because of persistent hypoglycemia associated with symptoms development (peripheral tremors). Newborns can present with a wide variety of symptoms, including irritability, tremor, feeding impairment, coma, or be completely asymptomatic. He was treated with continuous glucose infusions progressively increased to a rate of 12.7mg/kg/min. Because of persistent hypoglycemia (> 72h) and high i.v. glucose needs (>10 mg/kg/min) screening tests during fast-induced hypoglycemia were performed and isolated hyperinsulinism was detected. Oral medical therapy with diazoxide was started with benefit. Genetic testing was also performed to characterize CHI. The diagnosis is usually based on clinical and biochemical findings. The mainstay of therapy is oral diazoxide administration. However, in cases refractory to medical therapy, 18F- DOPA-PET can be used to identify specific histological patterns which may need surgical intervention. Neonatal CHI-induced hypoglycemia should always be considered in the differential diagnosis of NH. Prompt diagnosis and genotypic characterization of CHI through clinical, biochemical, radiological, and genetic testing is fundamental for a proper therapeutic management of the condition and for prevention of neurological sequelae.

【 授权许可】

CC BY