Type 2A Pontocerebellar Hypoplasia, A Rare Cause of Psychomotor Delay: A Case Report

Abstract

Aims: This case report aims to describe a child with type 2A pontocerebellar hypoplasia (PCH2), whose clinical features were suggestive but non-specific, emphasizing the diagnostic value of neuroimaging and genetic testing. Presentation of Case: A 4-year-old girl, born at term from a consanguineous marriage, presented with feeding difficulties, neonatal hypotonia, psychomotor delay, epilepsy, and dyskinesia from 5 months of age. Examination revealed microcephaly, failure to thrive, spasticity, and clonus. Brain MRI showed hypoplasia of the cerebellar vermis. EEG indicated background slowing; visual evoked potentials were normal. Genetic testing revealed a homozygous mutation in the TSEN54 gene (17q25.1), confirming PCH2. She was treated with Levetiracetam, Clobazam, and Trihexyphenidyl. Discussion: PCH2 is a rare autosomal recessive neurogenetic disorder linked to TSEN54 mutations. It typically presents neonatally with motor, feeding, and respiratory dysfunction, later progressing to severe neurological impairment. Diagnosis is based on clinical, radiological, and genetic findings. Due to its hereditary nature, genetic counseling is critical. Conclusion: This case highlights the need to consider PCH2 in infants with early-onset neurological symptoms. Neuroimaging and genetic studies are essential for diagnosis. Multidisciplinary care and genetic counseling are key in managing such patients.