Publications by authors named "Kent M Mok"
Pediatr Neurol
December 2024
Article Synopsis
- - This report details a pediatric case of MPPH syndrome, a rare neurodevelopmental disorder linked to gene variants, specifically a unique CCND2 variant in this patient that caused serious neurological issues.
- - The patient showed significant prenatal abnormalities, such as ventriculomegaly and polymicrogyria, and developed infantile spasms which were eventually managed with topiramate after prednisone failed.
- - The findings emphasize the need for prompt genetic testing and neuroimaging for accurate diagnosis and management of MPPH syndrome, suggesting that early intervention could lead to better developmental outcomes.
