Early-Onset Epilepsy with Pontocerebellar Hypoplasia in a Consanguineous Pakistani Family: A Case Report
Abstract
Epilepsy is a prevalent neurological condition marked by frequent, spontaneous seizures and symptoms which affects individuals of all ages worldwide (Leenen et al., 2016). Early-onset epilepsy frequently indicates an underlying genetic aetiology with autosomal recessive inheritance, especially when consanguinity and a favorable family history is present (Balestrini et al., 2021). According to estimates, there are 9.99 cases of epilepsy for every 1000 people in Pakistan. It is more common among younger people (those under 30) (Deng et al., 2014). The diagnosis of severe neurodevelopmental epileptic disorders is further supported by neuroimaging findings such as anomalies in the brainstem and cerebellum (Adamczyk et al., 2021).
Fields of Study & Subjects
Epilepsy research and treatment
Fetal and Pediatric Neurological Disorders
Metabolism and Genetic Disorders
Publication details
- Journal / source
- INTERNATIONAL JOURNAL OF APPLIED AND CLINICAL RESEARCH
- Volume
- 4
- Issue
- 01
- Pages
- 3–4
- Publication date
- 15 March 2026
- Language
- EN