A Rare Case of PCH10 With CLP1 Mutation: Clinical Features and Dental Management of Riga-Fede Lesion in a Pediatric Patient

Background

Pontocerebellar hypoplasia Type 10 (PCH10) is an extremely rare autosomal recessive neurodegenerative disorder caused by biallelic mutations in the CLP1 gene. The disease is characterized by severe developmental delay, progressive microcephaly, epilepsy, spasticity, and craniofacial dysmorphic features. To our knowledge, Riga-Fede disease in a patient with genetically confirmed PCH10 has not been previously reported.