ESPE Abstracts (2021) 94 P2-147

ESPE2021 ePoster Category 2 Diabetes and insulin (72 abstracts)

Thrombocytopaenia induced by diazoxide treatment in a toddler with Hyperinsulinism-Hyperammonemia syndrome: a rare side-effect

Vasiliki Bisbinas 1 , Andreas Giannopoulos 2 & Zacharoula Karabouta 2


1Medical School, University of Bristol, Bristol, United Kingdom; 22nd Paediatric Department, University General Hospital AHEPA, Thessaloniki, Greece


Introduction: Diazoxide is the first-line drug for Hyperinsulinemia-Hyperammonemia (HI/HA) syndrome, a disease due to a mutation in the glutamate dehydrogenase-1 (GLUD1) gene.Diazoxide, an opener of the pancreatic β-cells KATP-channels reducing insulin release, is uncommonly associated with thrombocytopaenia.

Aim: We describe a toddler with HI/HA syndrome who developed thrombocytopaenia on diazoxide treatment.

Subjects and methods: A 13-month-old boy was transferred to our department from a District Hospital (DGH) due to two episodes of tonic-clonic seizures associated with loss of consciousness, staring, hypoglycaemia (blood glucose (BG) 32mg/dl (1.7 mmol/l)). Treatment was intravenous (iv) Dextrose and oral feeds; continued to have asymptomatic hypoglycaemia (BG <60mg/dl (3.3 mmol/l)). On admission, he was alert, had normal physical examination and development, growth (15th percentile). He was born at 39 weeks gestation, small for gestational age (birth weight 2210gr), first child of unrelated parents. His 28 year-old mother had epilepsy since the age of five years old, on antiepileptics; father 45 years old, healthy. Episodes of sweating, restlessness, and upper limbs tremor were reported the last four months prior to admission. Hypoglycaemia screen when BG 36mg/dl(2 mmol/l) revealed inappropriately high insulin and C-peptide levels (17,8μIU/ml and 3,3ng/ml respectively) with negative blood and urine ketones. Septic screen was negative, cortisol, thyroid function, growth hormone, metabolic screen, carnitine, acylcarnitine, imaging studies, electroencephalograph were normal. Hypoglycaemia and hyperammonaemia (92 mmol/l) were confirmed by a glucagon and protein-loading test leading to a suspected diagnosis of HI/HA syndrome. He was treated with iv dextrose 10%, oral feeds and oral diazoxide (max dose 6.7mg/kg/d) and hydrochlorothiazide (7 mg/kg/d). He responded well to medication and was discharged. He presented at the DGH on day 12 of diazoxide treatment with a two-day history of petechial rash and nose bleeds, no signs of infection. Platelet count (PLT) was 2K/μL (NR 150-450K/μL); treated with corticosteroids. On re-admission PLTs were 4K/μL; he received iv platelets, immunoglobulin, prednisolone, diazoxide was discontinued. On day 5 PLTs increased to 226K/μL, he had hypoglycaemic episodes. Diazoxide was replaced with octreotide and later with lanreotide. He has been well since with no hypoglycaemia +/- seizures, growth is on the 5th centile; normal development.

Results: Genetic testing confirmed HI/HA syndrome to the patient and his mother. The thrombocytopaenia was ameliorated five days after diazoxide discontinuation (PLT 226 K/μL).

Conclusions: Diazoxide is a well-tolerated, oral medication for hyperinsulinaemic hypoglycaemia, thrombocytopenia is a rare side effect. In such cases, second-line treatment with other agents, such as octreotide, may be required.A full blood count should be obtained periodically.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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