The Dandy–Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes

Abstract

<jats:sec> <jats:title>Object</jats:title> <jats:p>The Dandy–Walker complex is a continuum of aberrant development of the posterior fossa that has been associated with multiple congenital anomalies, radiographic abnormalities, and developmental delay. The Dandy–Walker variant (DWV) is a unique entity believed to represent a milder form of the complex, and is characterized by a specific constellation of radiographic findings. In this retrospective case series, the authors report the association of the DWV with other congenital anomalies, the associated radiographic findings linked with DWV, and the developmental outcome in this population.</jats:p></jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>The charts and radiographs of 10 male and 14 female patients treated between 2000 and 2006 were examined. The patients' mean gestational age was 35.6 weeks (range 23–41 weeks), and the mean follow-up period was 5.1 years (range 1 month–15 years).</jats:p></jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>Three patients died. Associated anomalies included cardiac (41.7%), neurological (33.3%), gastrointestinal (20.8%), orthopedic (12.5%), and genitourinary (12.5%) abnormalities. Less common were pulmonary and psychiatric findings. Developmental delay was identified in 11 of the 21 patients for whom follow-up was available. Five of 6 patients with isolated DWV had a normal developmental course. Radiographic findings associated with DWV included corpus callosum dysgenesis in 20.8%, ventricular enlargement in 29%, and vermian rotation in 8.3%. Shunts were placed in 4 of 7 patients with ventriculomegaly. Using the two-tailed Pearson correlation, the authors determined that developmental outcome was solely affected by neurological deficits and that ventricular enlargement predicted the need for shunt placement.</jats:p></jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>The DWV was associated with both extra- and intracranial anomalies. Associated radiographic abnormalities including ventriculomegaly were observed. Hydrocephalus requiring cerebrospinal fluid diversion may be indicated. Isolated DWV was associated with a good developmental outcome.</jats:p></jats:sec>

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

“…Studies have shown that behaviors of the autistic spectrum may also be found in conditions involving the Dandy-Walker complex (9) . In spite of the controversial findings in the literature, alterations in the cerebellum present in the Dandy-Walker variant have been described in cases that present manifestations of the autistic spectrum.…”

“…The literature points out various possibilities of alterations in development in individuals who present conditions of Dandy-Walker complex (9) . As the Dandy-Walker variant is the mildest form of the complex, the occurrence of asymptomatic conditions is possible, this being dependent on the etiologic factor of these malformations or of the presence of associations with other clinical conditions.…”

“…These anomalies pertain to a continuum of malformations (hypoplasia of the cerebellar vermis, slightly widened frontal region; increased cisterna magna in communication with the IVth ventricle) (8)(9)(10) . It should be pointed out that in the literature review performed, only one clinical description was found of the association of the Fragile X with neuro-radiological findings compatible with Dandy-Walker malformation (11) .…”

“…Thus, the Dandy-Walker malformation is characterized by cystic dilation of the fourth ventricle and widening of the posterior fossa, complete or partial agenesia of the cerebellar vermis, tentorial alteration and hydrocephalia. Whereas the Dandy-Walker variant is characterized by variable hypoplasia of the cerebellar vermis with or without widening of the cisterna magna, presence of communication between the fourth ventricle and the arachnoideal space, and absence of hydrocephalia (9) . Thus, the Dandy-Walker variant is considered the mildest form of the Dandy-Walker complex (9)(10)(11) .…”

Coarctation of the aorta associated with Dandy–Walker variant

“…10 of 24 patients (41.7%) have either patent ductus arteriosus, ventricular septal defect, atrial septal defect, transposition, hypoplastic right heart, or pulmonary artery stenosis. 10 …”