title: Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.
abstract: We report the first case of a neonate with concurrent Chiari II malformation 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.
authors.affiliation: Al-Wala Awad, College of Medicine-Phoenix, University of Arizona, Phoenix, AZ 85004, United States.
authors.forename: Al-Wala
authors.initials: AW
authors.lastname: Awad
authors.affiliation: Al-Wala Awad, College of Medicine-Phoenix, University of Arizona, Phoenix, AZ 85004, United States.
authors.forename: Kyrieckos A
authors.initials: KA
authors.lastname: Aleck
authors.affiliation: Al-Wala Awad, College of Medicine-Phoenix, University of Arizona, Phoenix, AZ 85004, United States.
authors.forename: Ratan D
authors.initials: RD
authors.lastname: Bhardwaj
keywords: Achondroplasia; Cerebral spinal fluid diversion; Cervicomedullary junction; Chiari II malformation; Hydrocephalus; Shunt failure