PP07.9 – 2445: Epilepsy and neurological manifestations in children with congenital hyperinsulinism

Abstract

Objective Hypoglycemia in congenital hyperinsulinism (CHI) in children increases the risk of brain damage, seizures and development delay. Aim was evaluate the frequency of epilepsy, development delay and neurological manifestations in children with CHI. Methods Clinical, EEG, MRI, genetic, psychological testing. Results 8 boys and 7 girls with CHI aged from 5 month to 7 years (on average 3 years 3 months) were examined. Hypoglycemia was found one the first week of life in 10 children, before 12 month – 5. It was manifested as seizures in 10 of 15 patients (66%). During the follow-up epilepsy developed in 3 patients (20%) and antiepileptic drugs were prescribed. On the neurological examination 6 children had only mild changes, 3 – cerebral palsy (60%). Brain MRI revealed abnormalities in 8 (53%) cases: 7 – atrophy of different localization. Epileptiform abnormalities on the EEG were registered in 4 cases, bifrontal slowdown – in other 5 cases. On psychological testing performed in 9 of 15 patients development delay was observed, which was mild in 2, moderate – in 3, severe – in 4. Before the CHI diagnosing 5 children received anticonvulsive therapy, which was ineffective in all cases before starting specific therapy. The genetic assessment was done in 13 children: in 2 cases the KCNJ11 gene mutation was found, in 4 – ABCC8 gene mutation. Children with ABCC8 gene mutation had more complicated course of CHI, 2 of them had epilepsy, 3 – severe development delay. Conclusion The seizures in CHI do not always require diagnosing “epilepsy” and prescription of antiepileptic drugs. EEG abnormalities in these children may be observed despite of the absence of epileptic seizures. Development delay was more often revealed in children with abnormalities on neurologic examination and MRI. Children with ABCC8 gene mutation have more complicated course of CHI and more prominent development delay.