Dandy-Walker malformation - a review

Abstract

Introduction: Dandy-Walker malformation (DWM) is a rare congenital disorder that involves the cerebellum and the fourth ventricle. The absence or hypoplasy of the vermis, cystic dilatation of the fourth ventricle and enlarged posterior fossa are the key features of the malformation. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions. Symptoms often occur in infancy and the most common clinical manifestation (20-80% of the cases) is hydrocephaly which leads to macrocephaly.Aims: The aim of this work is to underline the ethiology, diagnosis, neuroanatomy, and threatment of Dandy-Walker syndrome.Materials and methods: We present a review of recent studies, including case reports and MRI scans of patients suffering from DWM.Results: Although its pathogenesis is not completely understood, there are several genetic loci related to DWM. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. The condition can be a feature of other hereditary diseases, such as Edwards syndrome (trisomy 18). Imaging modallies - computerised tomography, magnetic resonance imaging and ultrasound are crucial for the diagnosis of DWM and distinguishing this disorder from other cystic posterior fossa lesions. Most cases of DWM are associated with anomalies of other areas of the the central nerves system including absence of corpus callosum and displasia of the cingulate gyrus. The treatment is mainly surgical - endoscopic or creating a shunt.Conclusion: DWM carries a high mortality rate ~70% in live born fetuses, often due to associated abnormalities. It is thought to carry a poorer prognosis if diagnosed prior to 21 weeks of gestation and better prognosis if diaginosed postnatally.