Malformation of Dandy-Walker

The malformation of Dandy-Walker is a malformation of the central Nervous system gathering

cyst of the posterior cerebral Fosse in communication with the IVème ventricle
absence or insufficient development of the cérébelleux Vermis

This malformation can be isolated or the witness from a genetic disease or infectious

Other names of the disease

There exist fine anatomical variations of this malformation which are indicated like complex Dandy-Walker or variable Dandy-Walker

Incidence

1 per 100.000 live births but it is more frequent at the boy (1,24 per 100.000 that in the girl (0,78 per 100.000).

Diagnosis

Echographic

The study of the posterior pit belongs to the obligatory items during the morphological echography of the second quarters. The diagnosis cannot be made before 18 weeks because the development of the cérébelleux vermis is completed only with this période.
The size of the posterior pit should not exceed 10 mm.
The discovery of a malformation of Dandy-Walker must seek other associated malformations like:

Sterility of the callous body
Anomaly of the congenital gyration
Cardiopathie
Anomaly of the face or the hands

Étiologique

the interrogation will seek the catch of drugs.
the search for a etiology requires the realization of the fetal Caryotype and the realization of a study of the fetal brain by Imagerie with magnetic resonance.
the investigations in the search of maternal and fetal viral infection will be made.

Etiology

Genetic disease

Lissenencéphalie de Warburg
Syndrome of Whetstone sheath-Siris
Syndrome of Joubert
Syndrome of Mohr
Syndrome of Meckel-Gruber
Syndrome of Fraser
Syndrome of Aicardi
Syndrome of Smith-Lemli-Opitz
PHACE Association
Syndrome of Ellis-Van Creveld
Syndrome of Goldston

Chromosomal disease

Many chromosomal anomalies can be responsible for this malformation like:

Infectious illness

Teratogenic

Alcohol
Anti-vitamin K
Isotrétinoïne

Maternal disease

Diabetes

Forecast

The forecast depends of course on the etiology. When malformations appears isolated and the negative etiologic investigation, 50% of the affected fetuses have a normal development post native

Sources

Site in French of information on the orphan rare diseases and drugs
Fetology Edition Mc Graw Hill
Personal site on the syndrome of Dandy-Walker

Random links: