PP66. PHENOTYPIC VARIABILITY IN DANDY-WALKER COMPLEX
M. BEMBEA, C. Jurca, S. Costea, Ş. Bembea, Al. Jurca, R. Harbuz Faculty of Medicine and Pharmacie ORADEA Clinical Children Hospital ORADEA - ROMANIA e-mail: bembea@yahoo.com
*Corresponding Author:
page: 77

Abstract

INTRODUCTION. The Dandy-Walker malformation is a rare congenital anomaly characterized by vermis agenesis or hypoplasia, cystical dilatation of the 4th ventricle and a large posterior fossa. The syndrome is defined by the mere presence of these three signs. The Dandy-Walker complex (DWC) includes cystic malformations of the posterior fossa, such as Dandy-Walker malformation, Dandy-Walker variant, mega cysterna magna and posterior fossa arachnoid cyst. OBJECTIVE. Presentation and discussion of three cases with different morphologic and clinical forms of the Dandy-Walker complex. In all three cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging (X-ray, CT, MRI) data. RESULTS. Patient #1 was diagnosed with Dandy-Walker syndrome. Patient #2 was diagnosed with a posterior fossa arachnoid cyst, left-sided Claude-Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal re flux. Patient #3 was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis. CONCLUSIONS. Dandy-Walker complex is a malformative association of the central nervous system. Its clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures. Key words: Dandy-Walker, macrocephaly, MRI




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