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Leopard syndrome, a neural crest disorder: a case report
Arquivos De Neuro-Psiquiatria
|June 1, 1981
Summary
This case report details Leopard syndrome with full clinical expression, including rare dental anomalies and megacolon. These findings suggest a neural crest origin for Leopard syndrome, impacting multiple systems.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Leopard syndrome is a rare autosomal dominant disorder characterized by specific clinical features.
- Previous descriptions have focused on cardinal signs, but a comprehensive understanding of its full spectrum is evolving.
Observation:
- A patient with Leopard syndrome exhibited cardinal signs plus macroglossia, multiple dental anomalies, basilar impression, platybasia, megacolon, clitoral hypertrophy, and anal ectopy.
- These additional findings represent previously undescribed manifestations of the syndrome.
Findings:
- The co-occurrence of dental anomalies and megacolon suggests potential involvement of dental papillae and myenteric plexus.
- This supports the hypothesis that Leopard syndrome arises from a disruption in neural crest cell development.
Implications:
- This case expands the known clinical spectrum of Leopard syndrome.
- Understanding the neural crest origin provides insights into the pathogenesis and potential therapeutic targets for Leopard syndrome and related disorders.