Dandy Walker variant – a case report <b>[Abstract in English]</b>

Abstract

Aims: To report the case of a patient with Dandy Walker Variant, reinforcing the importance of suspicion, investigation, diagnosis, and management of clinical presentations. Case description: A case of a male patient with clinical and radiological presentation typical of this disease is reported. During prenatal assessment, obstetrical ultrasound by 23 weeks and 3 days showed changes suggestive of Dandy Walker syndrome. At birth, physical examination showed cleft palate, right cryptorchidism and hexodactilia on both feet. He had also an echocardiography with foramen ovale and patent ductus arteriosus. The diagnosis was confirmed by magnetic resonance imaging after birth, showing hypoplasia of cerebellar vermis, enlargement of the posterior fossa and mild ventricular dilatation. Conclusions: This article aimed to characterize the Dandy Walker Variant, which is a congenital malformation of the central nervous system and is the most common type of Dandy Walker Syndrome. Its phenotype is variable and we should always search for both intra and extracranial abnormalities, since the risk of postnatal mortality increases when there is such association, as presented in this case. The treatment involves a multidisciplinary approach. Prognosis is limited and varies according to the phenotype.