Desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia

We encountered a 1-year-old boy with desmoplastic/nodular medulloblastoma (DNMB) associated with anhidrotic ectodermal dysplasia (AED). He was admitted to our institute because of ingravescent vomiting. On physical examination, a depressed nasal bridge, low-set ears, thick lips with peg-shaped teeth, hypohidrosis, sparse hair, thin atrophic skin, scaly dermatitis with frontal bossing, enlarged head size, and bulging anterior fontanel were observed. Neuroradiological examination revealed multiple cerebellar masses with heterogeneous enhancement and speckled calcifications. Severe obstructive hydrocephalus was also observed. He underwent surgery based on histologically diagnosed DNMB, and received postoperative multiple-drug chemotherapy with a completely favorable outcome. One year has passed and the disease-free patient is still doing well without any unwanted events. AED was diagnosed on the basis of the clinical findings: this is probably the first report on AED-associated DNMB.