Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.

Abstract excerpt

Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients. METHOD: Six patients were enrolled in this study from September 2018 to March 2021. All the clinical radiological and genetic...

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• Cerebellar Diseases
• Child
• Mutation
• Nervous System Malformations
• Neurodegenerative Diseases