Persistent Hyperinsulinemic Hypoglycemia of Infancy: A Clinical Case Report

¹Senior Registrar, Ziauddin Hospital KDLB, Ziauddin Medical University, Karachi Pakistan

²Assistant Professor, Ziauddin Hospital KDLB, Ziauddin Medical University, Karachi, Pakistan

³Fourth year medical student, Ziauddin Medical College, Karachi, Pakistan

⁴Fourth year medical student, Ziauddin Medical College, Karachi, Pakistan

*Corresponding author: Tooba Javed, Fourth year medical student, Ziauddin Medical College, Pechs block 3 Maniya housing society, Number: 03331270058, Karachi, Pakistan, E-mail: [email protected]

Received Date: June 14, 2024

Publication Date: July 16, 2024

Citation: Safdar S, et al. (2024). Persistent Hyperinsulinemic Hypoglycemia of Infancy: A Clinical Case Report. Clin Res. 5(1):21.

Copyright: Safdar S, et al. © (2024).

ABSTRACT

Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) poses a significant challenge due to congenital hyperinsulinemia leading to low blood sugar levels, requiring immediate intervention to prevent potential long-term neurological complications. This case study outlines the presentation, diagnosis, and management of a 5-day-old infant exhibiting severe hypoglycemia symptoms, despite conventional glucose infusion rates. Notably, genetic mutations in ABCC8 and KCNJ11 genes underlie the pathogenesis, with diagnostic confirmation aided by specialized imaging techniques like 18F-DOPA-PET. Treatment modalities encompass pharmacotherapy targeting insulin secretion, including diazoxide, octreotide, and glucagon, alongside surgical options for refractory cases. This comprehensive analysis underscores the importance of advancing diagnostic strategies and therapeutic interventions to optimize outcomes for patients with PHHI.

Keywords: Persistent Hyperinsulinemic Hypoglycemia of Infancy, Neurological Injury, Surgery, Glucose