Dandy-Walker Syndrome

Multiple genetic factors; mostly sporadic with limited familial inheritance

Range: 1:10,000-30,000 newborns

Variable phenotypic expression and organ involvement

Increased incidence of additional developmental abnormalities

Depend upon severity of disease and comorbidities, which may include elevated ICP; craniofacial, cardiac, and renal malformation; seizure disorder; respiratory depression; nausea; and vomiting

Hydrocephalus with elevated ICP and possible seizures

Pt’s ability to cooperate and follow commands

Aspiration risk

Ventilation challenges because of craniofacial abnormalities

Postanesthetic respiratory depression

Multiorgan disease resulting in cardiac and urogenital abnormalities

Dandy-Walker complex represents a group of related congenital disorders of brain development, including Dandy-Walker malformation, mega cisterna, and Dandy-Walker variant.

Includes congenital brain malformation involving a hypoplastic cerebellum with variable defects in formation of the cerebellar vermis, enlargement of the fourth ventricle, and cyst formation in the posterior fossa.

Commonly associated conditions with variable severity include hydrocephalus, defects in corpus callosum formation, developmental delay, and abnormalities of the heart, urogenital tract, and bones. There may be associated developmental syndromes including PHACIES, spina bifida, and others, which may complicate management. Careful Hx and physical exam are required to identify comorbidities.

ICP and seizure management are primary concerns.

Rostral brain involvement may predispose pt to apnea following anesthetic.

Believed to be the result of multifactorial gene mutations. TUBA1A has been identified as a major driver, resulting from mutation of tubulin transport proteins. Inheritance is mostly sporadic, with a small familial association.