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Dandy-Walker malformation in the Meckel syndrome
R Herriot1, L A Hallam, E S Gray
1Department of Immunology, Western Infirmary, Glasgow, Scotland.
Abstract:
The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.
Insights
Meckel syndrome, a genetic disorder, typically causes brain malformations like occipital encephalocele. This study identifies a new association with Dandy-Walker malformation in three cases, expanding the understanding of this condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Neurology
Background:
- Meckel syndrome is an autosomal recessive disorder characterized by diverse central nervous system (CNS) malformations.
- Occipital encephalocele is the most common CNS anomaly observed in Meckel syndrome.
- The diagnostic criteria for Meckel syndrome are not consistently applied, leading to potential diagnostic challenges.