Related Experiment Videos
Plexiform neurofibromatosis of the ileum in an infant
Journal of Pediatric Surgery
|August 1, 1977
Insights
A rare case of infant intestinal obstruction and malabsorption due to plexiform neurofibromatosis is presented. This condition led to severe gastrointestinal issues and ultimately, the infant
Area of Science:
- Gastroenterology and Pediatric Surgery
- Oncology and Genetics
Background:
- Infantile malabsorption and intestinal obstruction are critical conditions requiring prompt diagnosis.
- Plexiform neurofibromatosis is a rare neoplastic proliferation of nerve cells, typically associated with neurofibromatosis type 1.
Observation:
- A neonate presented with severe malabsorptive symptoms and intermittent intestinal obstruction shortly after birth.
- Surgical exploration at six months revealed plexiform neurofibromatosis affecting the terminal ileum.
Findings:
- Histopathological confirmation of plexiform neurofibromatosis in the terminal ileum.
- The infant experienced progressive gastrointestinal functional impairment.
Implications:
- Highlights the potential for rare gastrointestinal manifestations of neurofibromatosis in infants.
- Underscores the challenges in diagnosing and managing complex pediatric gastrointestinal disorders.
- Suggests the need for early recognition of neurofibromatosis in infants presenting with severe digestive symptoms.
Abstract:
An infant is reported in whom severe malabsorptive symptoms developed shortly after birth associated with intermittent episodes of intestinal obstruction. Plexiform neurofibromatosis involving the terminal ileum was found at laparotomy at the age of 6 mo. The infant died from gastrointestinal functional impairment at the age of 1 yr.