Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma

• Main Authors: Aboian, M. (Author), DeNunzio, N.J (Author), Ebb, D. (Author), Giantsoudi, D. (Author), Kahle, K.T (Author), Marks, A.M (Author), Puthenpura, V. (Author), Yock, T.I (Author), Zeng, X. (Author)
• Format: Article
• Language: English
• Published: Allen Press Inc. 2022
• Subjects: Aarskog-Scott syndrome; brainstem radiation necrosis; hyperbaric oxygen therapy; medulloblastoma
• Online Access: View Fulltext in Publisher

 Purpose: Medulloblastoma is known to be associated with multiple cancer-predisposition syndromes. In this article, we explore a possible association among a patient's Aarskog-Scott syndrome, development of medulloblastoma, and subsequent brainstem radiation necrosis. Case Presentation: A 5-year-old male with Aarskog-Scott syndrome initially presented to his pediatrician with morning emesis, gait instability, and truncal weakness. He was ultimately found to have a posterior fossa tumor with pathology consistent with group 3 medulloblastoma. After receiving a gross total resection and standard proton beam radiation therapy with concurrent vincristine, he was noted to develop brainstem radiation necrosis, for which he underwent therapy with high-dose dexamethasone, bevacizumab, and hyperbaric oxygen therapy with radiographic improvement and clinical stabilization. Conclusion: Based on several possible pathologic correlates in the FDG1 pathway, there exists a potential association between this patient's Aarskog-Scott syndrome and medulloblastoma, which needs to be investigated further. In patients with underlying, rare genetic syndromes, further caution should be taken when evaluating chemotherapy and radiation dosimetry planning. © 2021 The Author(s)