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Oral Presentation - 93
Neurodevelopmental outcomes in congenital hyperinsulinism: Challenges persist despite early surgical intervention
Betül Dölek 1, Gülten Öztürk 2, Belma Haliloğlu 3, Tülay Güran 3, Gürsu Kıyan 1, Kıvılcım Karadeniz Cerit 1
1 Marmara University Faculty of Medicine, Department of Pediatric Surgery, Istanbul
2 Marmara University School of Medicine, Department of Pediatric Neurology, Istanbul
3 Marmara University, School of Medicine, Division of Pediatric Endocrinology, Istanbul
Purpose: Congenital hyperinsulinism (CHI) is the leading cause of persistent hypoglycemia in neonates and infants. While early surgical intervention may restore glycemic control, the risk of neurodevelopmental impairment remains significant.
Methods: We retrospectively analyzed data of 7 infants with CHI who underwent surgical intervention during early infancy. Patients were classified as having diffuse or focal CHI based on clinical, imaging/genetic tests, and histopathological findings. Data regarding EEG, cranial imaging, and long-term neurodevelopmental (ND) outcomes were evaluated.
Results: Data is summarized in Table 1.
Conclusion: Early surgical intervention may not fully prevent neurodevelopmental sequelae in patients with diffuse CHI, especially in the presence of severe or prolonged hypoglycemia before diagnosis. Accurate differentiation between focal and diffuse CHI is critical to guide individualized management and improve outcomes in long-term neurological follow-up.
|
Patient |
CHI type/age at diagnosis |
Operation (age at operation) |
Neurological evaluation |
EEG findings/cranial imaging |
ND outcomes |
|
1 |
DCHI/30 days |
Near total pancreatectomy+gastrostomy (6 months) |
Seizure (+) Hypotonic, no head holding |
Normal |
Learning disability, ADHD |
|
2 |
DCHI/7 days |
Near total pancreatectomy+gastrostomy (2 months) |
Seizure (+) Microcephaly, jitterness |
Low voltage, widespread amplitüde suppression, epileptic activity(findings compatible with metabolic seizure) Cranial BT: Low periventricular white matter dansity |
Speech disability, learning disability, ADHD |
|
3 |
FCHI/31 days |
Enucleation (7 months) |
Seizure (-) Normal |
Normal |
- |
|
4 |
DCHI/54 days |
Near total pancreatectomy+gastrostomy (3 months) |
Seizure (+) Speech therapy |
Normal TFUS: G1 germinal matrix hemorrhage in the right caudatelamic notch |
Speech disability, learning disability, ADHD |
|
5 |
FCHI/1 day |
Distal pancreatectomy+gastrostomy (4 months) |
Seizure (+) Normal |
Voltage depression Cranial MRI: thinned collosum |
- |
|
6 |
DCHI/1 day |
Near total pancreatectomy+gastrostomy (2 months) |
Seizure (-) Normal |
Cranial MRI: Bilateral Grade 1 hemorrhage |
- |
|
7 |
DCHI/1 day |
Near total pancreatectomy+gastrostomy (2 months) |
Seizure (-) Normal |
- |
- |