Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report

Azzeddine Laaraje; Abdelilah Radi; Aomar Agadr; Rachid Abilkassem

doi:10.5114/pedm.2025.153731

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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Case report

Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report

Azzeddine Laaraje

¹

,

Abdelilah Radi

¹

,

Aomar Agadr

¹

,

Rachid Abilkassem

¹

Department of Pediatrics, Mohammed V Training Military Hospital, Mohammed V University, Rabat, Morocco

Pediatr Endocrinol Diabetes Metab 2025; 31 (3):

DOI: https://doi.org/10.5114/pedm.2025.153731

Online publish date: 2025/08/22

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- 0352_Severe congenital.pdf [1.00 MB]

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2. Clayton PT, Eaton S, Aynsley-Green A, et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001; 108: 457–465. doi: 10.1172/JCI11294.

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7. Lord K, Dzata E, Snider KE, et al. Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. J Clin Endocrinol Metab 2013; 98: E1786–1789. doi: 10.1210/jc.2013-2094.

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9. Banerjee I, Salomon-Estebanez M, Shah P, et al. Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutations and correlation with clinical phenotype. Orphanet J Rare Dis 2022; 17: 61–68. doi: 10.1186/s13023-022-02214-y.

Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report

Azzeddine Laaraje 1 , Abdelilah Radi 1 , Aomar Agadr 1 , Rachid Abilkassem 1

Azzeddine Laaraje

¹

,

Abdelilah Radi

¹

,

Aomar Agadr

¹

,

Rachid Abilkassem

¹