Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst

Abstract

Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Although all patients with Dandy-Walker malformation required ventriculoperitoneal shunts and 66% were intubated at birth, none required tracheostomy tube and 2 of 5 surviving children had no neurologic deficits. Vermian hypoplasia was strongly associated with genetic conditions and cardiac malformations; odds of not ambulating normally were 12 times greater if a syndrome or injury was present. Echocardiogram and genetic screening are recommended with vermian hypoplasia. There is a risk for epilepsy in both Dandy-Walker malformation and vermian hypoplasia. Blake pouch cyst can be complicated by hydrocephalus, but outcome is favorable.

Clinical Applications of Fetal MRI in the Brain

“…Suspected "Dandy-Walker Malformation" is a common reason for referral for fetal MRI, and is often a differential consideration for any posterior fossa abnormality identified on fetal US. Though the "Dandy-Walker Malformation" terminology is controversial, as there is ongoing inconsistency of its description in the literature, fetal MRI can be helpful in accurately characterizing abnormalities of the vermis and diagnosing classic Dandy-Walker Malformation, for which at our institution this diagnosis typically results in CSF diversion in the neonatal period [52]. Classic Dandy-Walker malformation has been described as having three imaging criteria: partial or complete absence of the vermis, cystic enlargement of the fourth ventricle, and an enlarged posterior fossa marked by upward displacement of the tentorium and torcular, seen as "torcular-lambdoid inversion" in the postnatal period [53].…”

Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study

“…Our findings showed a slightly higher percentage, with 78.6% of DWM cases diagnosed postnatally as developmental delay; Hydrocephaly was developed in only six cases. However, hydrocephalus was reported as the most frequent CNS complication in DWM, and Venkatesan et al results showed there is a high risk of requiring a ventriculoperitoneal shunt and developing epilepsy during early childhood 15 – 17 . In addition, the results of a previous systematic review demonstrate an increased risk of abnormal neurodevelopmental outcomes in children with a prenatal diagnosis of isolated DWM 18 .…”

Tic-Related Obsessive–Compulsive and Eating Disorders in Dandy–Walker Variant: A Case Report and Systematic Reappraisal of Psychiatric Profiles

“…Dandy-Walker complex (DWC) defines a spectrum of congenital multifactorial anomalies of the posterior fossa [1]. According to the modern classification, DWC includes Dandy-Walker malformation (DWM), isolated vermian hypoplasia, and Blake pouch remnant [2,3]. In contrast, the previous nomenclature identified four different clinical entities standing alongside each other in a continuum, comprising DWM, Dandy-Walker variant (DWV), mega cisterna magna (MCM), and posterior fossa arachnoid cyst (PFAC) [4].…”