Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Abstract

<b><i>Background:</i></b> Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. <b><i>Objective:</i></b> The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. <b><i>Methods:</i></b> Anonymous individual data on cases of DW malformation diagnosed in 2002–2015 from 28 registries in 17 countries were included. Prevalence, prenatal detection rate, proportions and types of associated anomalies were estimated. Cases of DW variant were considered and analysed separately. <b><i>Results:</i></b> Out of 8,028,454 surveyed births we identified a total of 734 cases, including 562 DW malformation cases and 172 DW variant cases. The overall prevalence of DW malformation was 6.79 per 100,000 births (95% CI 5.79–7.96) with 39.2% livebirths, 4.3% foetal deaths from 20 weeks gestational age, and 56.5% terminations of pregnancy after prenatal diagnosis of foetal anomaly at any gestation (TOPFA). The livebirth prevalence was 2.74 per 100,000 births (95% CI 2.08–3.61). The prenatal detection rate was 87.6%. Two-hundred and seventy-three cases (48.6%) had an isolated cerebral anomaly and 24.2, 19.2 and 5.5% cases were associated with other structural non-cerebral anomalies, chromosomal anomalies and genetic syndromes respectively. The prevalence of DW variant was 2.08 per 100,000 (95% CI 1.39–3.13). <b><i>Conclusions:</i></b> This European population-based study provides the epidemiological profile of DW malformation. All birth outcomes were analysed and TOPFA represented more than half of the cases. About 50% of the cases of DW malformation were associated with other non-cerebral anomalies. Large populations and all birth outcomes are essential in epidemiological studies of rare and severe congenital anomalies.

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report

“…MRI of our patient showed cystic enlargement of the fourth ventricle and hypoplasia of the cerebellar vermis, which fulfilled the diagnostic criteria of Dandy-Walker variant. Similar to KS, Dandy-Walker malformation is also a rare condition, with an incidence of approximately 2.74 per 100,000 live births [31]. Dandy-Walker malformation has already been reported in three KS patients.…”

Hydrocephalus and Dandy- Walker Malformation: a review

“…According to ORPHANET, the European portal of rare diseases registry, the prevalence of DW in Europe is 1:100000 live births. Theses malformations account for approximately 1 to 4% of cases of hydrocephalus and familial cases are rare [30].…”

“…One should note that the prenatal detection index of DWM in Europe is around 90%. Prenatal diagnosis and the awareness of the prognosis of these patients can be of help in the postnatal treatment, as well as influence the parents' decision of whether to continue with the pregnancy [30,31].…”

“…However, some studies demonstrated that intelligence can be normal in as many as 75% of the cases. The severity of the cerebellar dysgenesia also accounts for a worse prognosis, with abnormal vermian lobulation being associated with poor intellectual outcome [2,30,31,32,33].…”

“…Signs and symptoms are related to the hydrocephalus, the cerebellar impairment and cranial nerve dysfunction. It is estimated that 80% of the patients present ventricles of normal dimensions at birth and 80% of them will develop hydrocephalus during the first year of life [2,30,31,32,33].…”