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Major malformations in a case of infantile myofibromatosis
1Department of Paediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
European Journal of Pediatrics
|January 1, 1990
Insights
This report details a rare case of infantile myofibromatosis in a male neonate. The condition was associated with multiple congenital anomalies, including oesophageal atresia and annular pancreas.
Area of Science:
- Pediatric Pathology
- Congenital Malformations
- Rare Diseases
Background:
- Infantile myofibromatosis is a rare benign soft tissue tumor in infants.
- While typically presenting as isolated lesions, it can rarely be associated with other congenital anomalies.
Observation:
- A male neonate presented with infantile myofibromatosis.
- The neonate also exhibited oesophageal atresia, annular pancreas, an extra sacral vertebra, and a hypoplastic right kidney.
Findings:
- This case highlights a rare co-occurrence of infantile myofibromatosis with a complex spectrum of congenital malformations.
- The specific combination of gastrointestinal, skeletal, and renal anomalies is noteworthy.
Implications:
- The findings underscore the importance of thorough investigation for associated malformations in neonates diagnosed with infantile myofibromatosis.
- Recognizing these associations is crucial for comprehensive patient management and genetic counseling.
Abstract:
A case of infantile myofibromatosis associated with oesophageal atresia, annular pancreas, additional sacral vertebra and hypoplatic right kidney in a male neonate is reported. The possibility of associated malformations in this rare disease is outlined.