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Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction 被引量:1

Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction
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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.
出处 《World Journal of Clinical Cases》 SCIE 2014年第11期711-716,共6页 世界临床病例杂志
关键词 ACHONDROPLASIA Chiari II malformation HYDROCEPHALUS Shunt failure Cervicomedullary junction Cerebral spinal fluid diversion Achondroplasia ChiariⅡmalformation Hydrocephalus Shunt failure Cervicomedullary junction Cerebral spinal fluid diversion
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