Objective: Dandy-Walker syndrome is a set of abnormalities of the posterior fossa including three modalities: classic Dandy-Walker malformation, Dandy-Walker variant and mega-cisterna magna. Our objective is clarify the differential diagnosis among these entities.

Material And Method: Descriptive and retrospective study of Dandy-Walker cases diagnosed at our Department during the last five years plus a review of the related Medical literature.

Results: Three cases of Dandy-Walker modalities are reported: one case of classic Dandy-Walker malformation, one case of Dandy-Walker variant, and one case of false Dandy-Walker. In the first two cases the patients underwent legal abortion, whereas in the last one a healthy male newborn was delivered in the week 38 of gestation.

Conclusions: Malformations in the posterior fossa, including Dandy-Walker syndrome, are still a challenge in prenatal diagnosis. Technical developments in imaging, such as in three-dimensional sonography and magnetic resonance, allow higher resolution and multiplanar images for an easier diagnose. There is a high rate of false positive, particularly before the 18th week of gestation. It is advisable not to establish a final diagnose before that week.

Download full-text PDF

Source

Publication Analysis

Top Keywords

dandy-walker syndrome
12
dandy-walker
10
posterior fossa
8
fossa including
8
classic dandy-walker
8
dandy-walker malformation
8
dandy-walker variant
8
dandy-walker cases
8
[differential diagnosis
4
diagnosis dandy-walker
4

Similar Publications

Introduction: Dandy-Walker syndrome (DWS), a complex neurodevelopmental disorder, has intrigued clinicians and researchers since its description by physicians Walter Dandy and Arthur Walker. Despite its recognition for nearly a century, understanding its etiology, pathogenesis, and clinical manifestations remains elusive. This bibliometric analysis aims to elucidate influential academic works on DWS.

View Article and Find Full Text PDF

Goldston syndrome (GS) is an extremely rare syndrome involving the central nervous system and kidneys. It is believed to have a familial association and an autosomal recessive inheritance and is characterized by the concomitant occurrence of cystic dysplastic kidneys and Dandy-Walker malformation. We report a case of antenatally detected GS at 22 weeks of gestation in a female with a consanguineous marriage.

View Article and Find Full Text PDF

Objectives: We sought to examine the relative importance of surgical lesion complexity versus the presence of genetic/syndromic/extracardiac anomalies (GSAs) in determining survival, morbidity or need for reinterventions following repair for aortic arch hypoplasia.

Methods: A single-centre, retrospective cohort study of infants undergoing biventricular aortic arch repair sternotomy from 2010 to 2021 was conducted. Survival analysis was performed using Kaplan-Meier methods, with additional Bayesian survival modelling for subgroups.

View Article and Find Full Text PDF

PHACEing a challenging diagnosis: Should we expand the phenotype?

J Med Imaging Radiat Oncol

October 2024

Paediatric Neurology/Neurogenetics Units, Monash Health, Melbourne, Victoria, Australia.

Article Synopsis
  • PHACE syndrome is a complex prenatal condition that can have significant health implications, often identified through specific signs observed in prenatal imaging.
  • The 'tilted telephone receiver' sign suggests a strong link to PHACE, but recent cases show it can also appear in less severe forms, prompting discussions about expanding how we recognize this syndrome.
  • A particular case with mild symptoms resembling PHACE did not actually result in the condition after birth, indicating that expanded criteria for diagnosis could lead to incorrect negative predictions for affected pregnancies.
View Article and Find Full Text PDF
Article Synopsis
  • This study examines how the different presentations of posterior fossa arachnoid cysts (PFACs) affect surgical decisions and patient outcomes in children.
  • A "wait and see" approach is recommended for asymptomatic patients, leading to better outcomes at one year; surgery types like fenestration or shunting show no significant difference in outcomes, but cyst location does matter.
  • Factors such as patient age, presence of hydrocephalus, and cyst location are crucial in determining the best treatment to reduce complications and improve results after surgery.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!