Dandy-Walker malformation: analysis of 38 cases

Abstract

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 cases); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra- and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.

Perinatal and Short-Term Neonatal Outcomes of Posterior Fossa Anomalies

“…Although the literature suggests an even distribution between gender for the DWC [13,20,21,22,23], or female predominance [4,5,14,24,25], this study identified a greater proportion of males across all groups, as seen in only some studies on the DWC [6] and MCM [6,13]. …”

Facial Hemangioma and Hemispheric Migration Disorder: Presentation of 5 Patients

“…13 In published reports on Dandy-Walker syndrome, the association with cutaneous vascular abnormalities is often observed. 14,15 Cerebral hemispheric changes, particularly neuronal migration or cortical organization disorders, in association with cutaneous vascular malformations, have been seldom reported in association with cutaneous vascular malformations of the face. [10][11][12] Cutaneous hemangiomas and vascular malformations are 3 times more frequent in women than in men, 8 and, in our series, cortical and subcortical alterations were found only in females.…”

Health Problems of Children with the Dandy-Walker Syndrome

“…On the day of examination, one child had a confirmed diagnosis. In the article "Dandy-Walker malformation: analysis of 38 cases" I. Pascual-Castroviejo et al, described 25 defects and disorders coexisting with the Dandy-Walker syndrome in a group of 38 children [10]. Table 2 shows the defects that are shared by both groups.…”

“…There is also a syndrome variant in which all characteristics do not occur and it always accompanies other development or genetic defects. As the literature shows, 50 to 80% of cases are accompanied by hydrocephalus which requires implantation of pledge system [6][7][8][9][10]. Nowadays, in the era of development of diagnosis techniques, the Dandy-Walker Syndrome is recognized already in fetal life which gives possibility of preparing the family for welcoming a chronically ill child [6].…”