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.

CASE PRESENTATION: We report the case of a 21-month-old girl with genetically confirmed PCH10 who presented with severe feeding difficulties and a ventral tongue ulcer caused by repeated trauma from the mandibular central primary incisors. The lesion was diagnosed as Riga-Fede disease. Because of persistent trauma, extraction of the offending teeth was performed under local anesthesia, which resulted in complete healing within follow-up. The patient's clinical course was further complicated by epilepsy, profound hypotonia, lack of motor control, and recurrent respiratory infections, requiring percutaneous endoscopic gastrostomy (PEG) feeding and intensive care admissions. Family history revealed the death of a sibling with a similar clinical presentation, supporting autosomal recessive inheritance.

CONCLUSION: This case highlights the multisystemic burden of PCH10 and emphasizes the importance of early recognition and management of oral complications such as Riga-Fede disease. Multidisciplinary care, including neurological, genetic, and dental follow-up, is critical for improving the quality of life in children with rare neurodegenerative disorders.