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Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease
H Mandel1, R Brik, R Ludatscher
1Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Insights
Congenital muscular dystrophy with neurological issues, known as "CMD Plus," can co-occur with Hirschsprung disease. This suggests a link between muscular dystrophy and visceral nervous system dysfunction.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Congenital muscular dystrophy (CMD) encompasses a group of inherited muscle-weakening disorders.
- Neurological abnormalities in CMD define the
- CMD Plus
- condition, indicating broader systemic involvement.
Observation:
- A case study of an infant girl with "CMD Plus" also diagnosed with Hirschsprung disease.
Findings:
- The co-occurrence of "CMD Plus" and Hirschsprung disease suggests a potential link between congenital muscular dystrophy and visceral nervous system abnormalities.
- This association supports the classification of Hirschsprung disease as an anomaly within the "CMD Plus" spectrum.
Implications:
- Consider Hirschsprung disease in infants presenting with central nervous system anomalies alongside congenital muscular dystrophy.
- This finding may lead to a revised understanding of congenital muscular dystrophy, incorporating visceral nervous system involvement.
Abstract:
We report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities ("CMD Plus" condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the "CMD Plus" array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies.