A boy with a congenital cerebellar mass

Purpose Tumorigenesis of medulloblastoma is believed to be associated with granule cell progenitor neurogenesis of the cerebellum. Nevertheless, congenital medulloblastomas are rarely found. Here, we report a case of congenital medulloblastoma that showed spontaneous albeit transient regression. Methods A one-month-old baby presented with abnormal antenatal and postnatal imaging findings. Upon ultrasonography at 26 weeks of gestational age, Dandy-Walker malformation with vermian hypoplasia and cystic change was suspected. Brain MRI at 1 week after birth revealed gadolinium-enhancing lesions in the cerebellum with apparent infiltrative features along the cerebellar folia accompanied by three independent cysts in the upper and inferolateral sides of the lesion. Serial MRIs taken up to 5 months of age showed a decrease in the size and extent of enhancing solid portions. The baby did not show any abnormal signs or developmental delay. MRI at the age of 7 months showed enlargement of the lesion, and surgery was performed. Results The lesion was diagnosed as medulloblastoma with histologically extensive nodularity (MBEN), genetically SHH-activated and TP53-wildtype. Conclusion This case provides an unusual chance of observing an early phase of medulloblastoma development and raises a suspicion that medulloblastoma may initiate itself very early in cerebellar organogenesis and progress later at a certain time of postnatal development.