Response to sirolimus in a case of diffuse congenital hyperinsulinaemic hypoglycaemia due to homozygous

Authors :: Chirantap Markand, Oza
Vaman, Khadilkar
Sandeep, Kadam
Anuradha, Khadilkar
Source :: BMJ case reports. 15(11)
Publication Year :: 2024
Abstract: We present a case of a male neonate with refractory and persistent neonatal hypoglycaemia not responding to octreotide. On evaluation for hypoglycaemia, his cortisol was within the reference range while the serum insulin concentrations were high. Gallium-68 dotatate scan (GA-68 DOTA) showed diffuse pancreatic involvement. Genetic diagnosis of congenital hyperinsulinaemic hypoglycaemia due to

Subjects :: Male
Sirolimus
Mutation
Infant, Newborn
Humans
Gallium Radioisotopes
Congenital Hyperinsulinism
Child

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