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Dandy-Walker syndrome and associated anomalies
J A Golden1, L B Rorke, D A Bruce
1University of Pennsylvania, School of Medicine, Philadelphia.
Insights
Dandy-Walker syndrome often co-occurs with other brain and body malformations in children. Associated anomalies complicate understanding the embryogenesis of this rare neurological condition.
Area of Science:
- Neurology
- Pediatrics
- Developmental Biology
Background:
- Dandy-Walker syndrome is a congenital brain malformation.
- Its embryogenesis and associated anomalies require further investigation.
Purpose of the Study:
- To investigate the spectrum of malformations associated with Dandy-Walker syndrome.
- To explore potential etiological factors based on observed anomalies.
Main Methods:
- Retrospective study of 28 pediatric patients with Dandy-Walker syndrome.
- Analysis of postmortem examinations (16 cases) and clinical follow-up data (12 cases).
Main Results:
- Hydrocephalus and central nervous system malformations were common (11/16) in postmortem cases.
- Visceral anomalies were present in 6/16 postmortem cases.
- Clinically followed children showed fewer severe malformations, but neurological deficits and abnormal EEGs were frequent.
Conclusions:
- Dandy-Walker syndrome frequently presents with diverse central nervous system and visceral anomalies.
- The high rate of associated malformations hinders the proposal of a single unifying hypothesis for its embryogenesis.
Abstract:
This is a retrospective study of 28 infants and children with Dandy-Walker syndrome: 16 had a complete postmortem examination and 12 are currently being followed clinically. Eleven of sixteen in the first category had hydrocephalus; 10 of those 11 had other central nervous system malformations, and 6 also had visceral anomalies. Four of the five without hydrocephalus had complex cardiac malformations and other visceral anomalies whereas 1 died as a consequence of acute myelogenous leukemia. The 12 children still under surveillance manifest no clinical evidence of significant visceral or central nervous system malformation, although 1 has CT scan evidence of agenesis of the corpus callosum. The majority (9/12) of these children have normal intelligence although 40% have focal neurologic deficits or gait abnormalities and 60% have an abnormal EEG. Frequent association of other malformations and/or visceral anomalies in children with Dandy-Walker syndrome make it difficult to propose a unifying hypothesis relative to embryogenesis of the syndrome.