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An unusual case of Peutz-Jeghers syndrome in an infant
American Journal of Diseases of Children (1960)
|August 1, 1975
Insights
This case report details the youngest patient diagnosed with symptomatic Peutz-Jeghers syndrome, identified at 11 months old. The diagnosis was confirmed by rectal polyps and characteristic mucocutaneous pigmentation.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Medical Case Reports
Background:
- Peutz-Jeghers syndrome is a rare autosomal dominant disorder.
- It is characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
- Increased cancer risk is associated with this syndrome.
Observation:
- An 11-month-old girl presented with colocolonic intussusception and rectal polyp prolapse.
- Brownish-black pigment spots on the lips appeared several months later.
- Histological examination of polyps confirmed Peutz-Jeghers syndrome.
Findings:
- This represents the youngest reported case of symptomatic Peutz-Jeghers syndrome.
- Early-onset intussusception can be an initial clinical manifestation.
- The characteristic mucocutaneous pigmentation developed later in infancy.
Implications:
- Highlights the importance of early recognition of Peutz-Jeghers syndrome in infants presenting with gastrointestinal issues.
- Suggests that intussusception may be an early sign of Peutz-Jeghers syndrome.
- Emphasizes the need for genetic counseling and long-term surveillance for affected individuals.
Abstract:
An 11-month-old girl had an unusual history of colocolonic intussusception associated with polyps that prolapsed through the rectum. Several months thereafter, characteristic brownish-black pigment spots of the lips were noted. The histologic appearance of the polyps was consistent with that of the Peutz-Jeghers syndrome. To our knowledge, this is the youngest reported case of symptomatic Peutz-Jeghers syndrome.