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A boy with a congenital cerebellar mass
Jeyul Yang1,2, Seung-Ki Kim1, Kyu-Chang Wang1,2
1Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Summary
Congenital medulloblastoma, a rare pediatric brain tumor, can undergo spontaneous regression in infants. This case highlights early tumor development and potential for transient regression during cerebellar development.
Area of Science:
- Pediatric neuro-oncology
- Developmental neurobiology
- Cerebellar tumorigenesis
Background:
- Medulloblastoma tumorigenesis is linked to cerebellar granule cell progenitor neurogenesis.
- Congenital medulloblastomas are infrequently observed.
- Understanding early tumor development is crucial for therapeutic strategies.
Observation:
- A neonate presented with antenatal imaging suggestive of Dandy-Walker malformation.
- Postnatal MRI revealed cerebellar lesions consistent with medulloblastoma.
- Serial imaging demonstrated transient regression of enhancing tumor components.
Findings:
- The diagnosed medulloblastoma was histologically extensive nodularity (MBEN), SHH-activated, and TP53-wildtype.
- The tumor exhibited spontaneous, albeit temporary, regression in the first months of life.
- The infant showed no developmental delays despite the tumor presence.
Implications:
- This case offers a unique window into early medulloblastoma development.
- It suggests medulloblastoma may initiate early in cerebellar organogenesis.
- Further research may elucidate mechanisms of early tumor progression and regression.
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