ID #440 International multidisciplinary management of relapsed infant medulloblastoma with gorlin syndrome

Background

Infant medulloblastoma remains a major therapeutic challenge due to high relapse rates and the long-term neurodevelopmental toxicity of radiotherapy. Management is further complicated in low and middle-income countries by limited access to molecular diagnostics and advanced treatment facilities.

Case Presentation

S.I. was a term male infant born after an uneventful pregnancy who underwent cleft lip repair at three months of age. He developed normally until 18 months, when he presented with developmental regression, persistent vomiting, and seizures. Neuroimaging revealed a posterior fossa tumor with severe hydrocephalus. Clinical features of Gorlin syndrome including macrocephaly, frontal bossing, and hypertelorism were noted. Genetic testing revealed a heterozygous duplication in the PTCH1 gene confirming the syndrome.

Management and Outcome

After emergency CSF diversion S.I. underwent a suboccipital craniotomy in India. Histopathology confirmed desmoplastic nodular medulloblastoma with no residual disease. His subsequent care in Ghana followed the HIT-SKK protocol, utilizing five cycles of systemic chemotherapy and intrathecal instead of intraommaya methotrexate. Despite initial stability and neurological recovery, the patient suffered a relapse with spinal metastasis one year later. He underwent salvage therapy in India, including high-dose chemotherapy, an autologous bone marrow transplant, and 36 Gy of craniospinal radiotherapy. Currently, the child is back in Ghana, engaging well with his family and showing progress through dedicated speech and physical therapy.

Conclusion

This case highlights the value of multidisciplinary and genetically informed management of infant medulloblastoma. While radiation-sparing approaches aim to protect the developing brain the risk of relapse remains substantial. In Gorlin syndrome, minimizing ionizing radiation and rigorous photo-protection are vital to prevent secondary malignancies. Early recognition of cancer predisposition syndromes, consistent surveillance, access to salvage therapy, and comprehensive rehabilitation are crucial for optimizing long-term outcomes and quality of life.

1. Mwebe, V. K., Wegoye, E., Ssekabunga, J., Onen, J., Kibudde, S., Chintagumpala, M., & Lubega, J. (2024). A case series of children with medulloblastoma depicting the disparities in care and the challenges in the detection and treatment of pediatric central nervous system tumors in low-resource settings: A case study of Uganda. Pediatric Neurology, 161, 67–72. https://doi.org/10.1016/j.pediatrneurol.2024.08.006