Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction  

作　　者：Al-Wala Awad Kyrieckos A Aleck Ratan D Bhardwaj 

机构地区：[1]College of Medicine-Phoenix, University of Arizona, Phoenix, AZ 85004, United States [2]Division of Genetics and Metabolism,Phoenix Children’s Hospital, Phoenix, AZ 85016, United States [3]Division of Neurological Surgery, Barrow Neurological Institute at Phoenix Children’s Hospital, Phoenix,AZ 85016, United States

出　　处：《World Journal of Clinical Cases》2014年第11期711-716,共6页世界临床病例杂志

摘　　要：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.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.

关 键 词：ACHONDROPLASIA Chiari II malformation HYDROCEPHALUS Shunt failure Cervicomedullary junction Cerebral spinal fluid diversion 

分 类 号：R726.8[医药卫生—儿科]