Epidemiology of Infratentorial Hemangioblastomas in Children
Incidence and Prevalence
Hemangioblastomas rare: Hemangioblastomas account for 1–3% of all tumors of the CNS and 7.5% of posterior fossa tumors (10).
Hemangioblastomas very rare in children: In children the prevalence is lower than 1/1,000,000, and the tumor generally is correlated with VHL.
Association with VHL nearly 50%: Hemangioblastoma can occur sporadically (50–65% of the cases) or in association with VHL (35–50%) (24). The prevalence of VHL is 1/35,000-50,000 (33).
Adolescence: Hemangioblastoma is typically diagnosed during early adulthood (third/fourth decades). The mean age at presentation is significantly lower in patients with associated VHL (33 years) than in patients with sporadic cases (43 years) (34). In children, the diagnosis is typically made during adolescence rather than during early childhood.
Male: A slight male predominance is reported by some authors (14).
Relationships to Other Disease States and Syndromes
VHL: Hemangioblastomas are the most frequent manifestation of VHL, occurring in 40–80% of patients with the condition (28). While hemangioblastomas in patients with VHL are typically multiple, VHL should be ruled out in patients with isolated hemangioblastoma since 4–14% have a VHL germline mutation, and 5% of those without a germline mutation have a “VHL-like” hemangioblastomatosis (55).