Concomitant achondroplasia and ChiariⅡmalformation:A double-hit at the cervicomedullary junction

摘要

We report the first case of a neonate with concurrent ChiariⅡmalformation and achondroplasia.Although rare,both these conditions contribute to several deleterious anatomical changes at the cervicomedullary junction and thus predispose to acute hydrocephalus.Although our patient was initially asymptomatic,hydrocephalus ensued several weeks after birth and required cerebral spinal fluid diversion.We discuss the potential links between the two conditions,the pathophysiology,and the important clinical implications for the management of the increased risk of hydrocephalus.