Dandy-Walker variant associated with Moebius syndrome.

Abstract

INTRODUCTION: Dandy Walker syndrome is a congenital malformation of the cerebellum and posterior fossa; it has an estimated incidence of 1 in 10,000 to 30,000 live births. It can present Dandy Walker variant,
which consists of variable hypoplasia of the cerebellar vermis or cerebellar hemispheres, with or without
enlargement of the posterior fossa, without cystic dilatation of the fourth ventricle and it can also manifest
together with other syndromes such as Moebius, being a rare presentation. OBJECTIVES: to describe a
clinical case of Dandy-Walker variant associated with Moebius syndrome. CLINICAL CASE: An 18-year-old
male with a history of Moebius syndrome was admitted to the emergency room with seizures, which required
mechanical ventilation and admission to the intensive care unit where a computerized axial tomography was
performed, showing cerebellar hypoplasia, enlargement of the posterior fossa, hypoplasia of the cerebellar
vermis, hypoplasia of the corpus callosum and hydrocephalus, and a diagnosis of Dandy Walker variant was
made, A search of bibliographic material was carried out in databases such as the New England Journal of
Medicine, PubMed, Elsevier, British Medical Journal, systemic reviews, meta-analysis, case-control studies,
multicenter retrospective studies, clinical cases, consensus documents on the subject of Dandy Walker syndrome, Dandy Walker variant, Moebius syndrome, and 33 articles were obtained from the last 5 years in
their great majority. DISCUSSION: This case study describes a patient with Moebius syndrome with finding
of Dandy-Walker variant during a seizure workup. Dandy Walker syndrome has a great clinical variability, so
much so that some severe cases have been described due to compression of the brainstem or herniation of
the encephalic mass through the foramina of Luschka and Magendie and others that are asymptomatic thanks to neuronal plasticity which is the functional adaptation of the central nervous system to minimize structural or physiological alterations, which can occur at any time of life. In our case we observed communicating hydrocephalus, agenesis of the corpus callosum and absence of the septum pellucidum accompanied by posterior fossa malformations. CONCLUSIONS The Dandy-Walker variant associated with Moebius syndrome, refers to a variant little described in the literature of the classic Dandy Walker syndrome, with its characteristic triad; the present case did not have dilatation of the fourth ventricle, which differentiates them, in addition we did not find hypoplasia of the cerebellar vermis isolated, but we found hypoplasia accompanied by other cerebral and limb malformations, like those found in Moebius syndrome. The clinical characteristics, the diagnosis and the therapy used, the need for intensive care and the procedures performed during the course of her evolution, the seizures subsided after treatment. It is concluded that this is a rare pathology in adulthood, which in some cases merits surgical treatment to treat hydrocephalus and thus provide a better prognosis and survival.