Challenges in the Diagnosis of Medulloblastoma Recurrence at an Unusual Site in a Patient With Prader-Willi Syndrome.
Title | Challenges in the Diagnosis of Medulloblastoma Recurrence at an Unusual Site in a Patient With Prader-Willi Syndrome. |
Publication Type | Journal Article |
Year of Publication | 2020 |
Authors | Panagopoulou, P., Sattar S., Aquilina K., Jan W., Jacques T., & Slater O. |
Journal | J Pediatr Hematol Oncol |
Volume | 42 |
Issue | 5 |
Pagination | e381-e384 |
Date Published | 2020 07 |
ISSN | 1536-3678 |
Abstract | Medulloblastoma is the most common malignant pediatric brain tumor. Survival rates range between 50% and 80% depending on histology and other biologic features, metastases, and treatment approach. Prader-Willi syndrome (PWS) is a genetically inherited disorder characterized by dysmorphic features, mental retardation, obesity, and hypogonadism among other features. We describe a 10.5-year-old girl with PWS and previous standard-risk medulloblastoma that relapsed in the pons 3 years after the end of treatment. Diagnosis of relapse was delayed by a preceding varicella infection, an initial clinical/radiologic response to steroids and the unusual location, and was confirmed with a stereotactic biopsy. Second-line therapy was commenced, however, the patient rapidly deteriorated and died. This is the first report of medulloblastoma in a patient with PWS. |
DOI | 10.1097/MPH.0000000000001555 |
Alternate Journal | J Pediatr Hematol Oncol |
PubMed ID | 31306337 |