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Dandy-Walker malformation in the Meckel syndrome
1Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Philadelphia, Pennsylvania, USA.
Abstract:
The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy-Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro-reno-digital (Meckel-like) syndromes.
Insights
Meckel syndrome (MS) presents with varied symptoms, including kidney disease, polydactyly, and brain malformations like Dandy-Walker. This study highlights the diverse clinical expressions of this rare genetic disorder.
Area of Science:
- Genetics and Developmental Biology
- Medical Genetics
- Pediatric Neurology
Background:
- Meckel syndrome (MS) is a rare autosomal recessive developmental disorder.
- Classic MS is characterized by occipital encephalocele, cystic kidneys, and polydactyly.
- Understanding MS phenotypic variability is crucial for diagnosis and management.
Observation:
- Three siblings presented with diverse manifestations of Meckel syndrome.
- One sibling had isolated cystic renal disease.
- Two siblings exhibited prenatal diagnosis of renal disease, polydactyly, and Dandy-Walker malformation.
Findings:
- The Dandy-Walker malformation represents an unusual CNS defect in Meckel syndrome cases.
- Phenotypic expression of Meckel syndrome can vary significantly among affected individuals.
- The findings expand the spectrum of known Meckel syndrome presentations.
Implications:
- These observations contribute to a broader understanding of Meckel syndrome's phenotypic spectrum.
- Further research into the genetic and molecular basis of MS variability is warranted.
- Clarifying the nosology of Meckel syndrome and related cerebro-reno-digital syndromes is essential.