Outcomes of Persistent Hyperinsulinaemic Hypoglycaemia of Infancy: A Case Series
Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI) is a rare but important aetiology of persistent and severe neonatal hypoglycaemia. Early recognition of this condition is crucial to prevent early brain injury to the developing brain. If PHHI is not recognised and treated promptly, it can...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2025-03-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/20782/73196_CE[Ra1]_F(SL)_QC(AN_SS)_PF1(JY_SS)_redo_PFA(IS)_PB(JY_IS)_PN(IS).pdf |
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| Summary: | Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI) is a rare but important aetiology of persistent and severe neonatal hypoglycaemia. Early recognition of this condition is crucial to prevent early brain injury to the developing brain. If PHHI is not recognised and treated promptly, it can lead to neurological impairment, cerebral palsy and epilepsy. PHHI has three subtypes: focal, diffuse and atypical. A total of 12 children were diagnosed with PHHI. Nine children returned for follow-up up to one year after discharge. Among the 12 children managed for PHHI, only three were diazoxide-responsive. Genetic analysis indicated that three children had mutations in the ABCC8 gene, and one had a mutation in the KCNJ11 gene. Among the diazoxide-unresponsive children, five had diffuse disease and four had focal hyperplasia, and they were managed with partial and near-total pancreatectomy, respectively. The mean duration of hospital stay was 41.3 days, ranging from 16-96 days. Eight out of the 12 children contracted nosocomial infections, and five out of the nine children who were discharged experienced repeated hospitalisations for transient hypoglycaemic episodes. Of the 12 children, six had normal development, three faced delays in achieving milestones, and three children died during their hospital stay. Therefore, a high index of suspicion for hyperinsulinism is needed for early diagnosis and prompt treatment, which may decrease the length of hospital stay and thus prevent morbidity due to nosocomial infections. Improved medical treatment is needed, as children rarely respond to diazoxide. Children with focal forms of Hyperinsulinism (HI) have a decreased need for repeated hospitalisation after surgery. |
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| ISSN: | 2249-782X 0973-709X |