[Non familial juvenile multiple polyposis. A case report]
1Servicio y Departamento de Cirugía y Anatomía Patológica, Hospital Clínico San Borja Arriarán, Campus Centro, Facultad de Medicina, Universidad de Chile.
Summary
A teenage girl with severe rectal bleeding and prolapse underwent surgery for over 200 polyps. Successful proctocolectomy resulted in a complete recovery, with the patient remaining asymptomatic after 24 months.
Area of Science:
- Gastroenterology
- Colorectal Surgery
Background:
- Juvenile polyposis can present with significant gastrointestinal bleeding and prolapse.
- Early diagnosis and intervention are crucial for managing severe pediatric gastrointestinal conditions.
Observation:
- A 15-year-old female presented with severe hematochezia, anemia, hemodynamic decompensation, rectal prolapse, and spontaneous polyp expulsion.
- No family history of polyposis was reported, and investigations excluded polyps in other digestive segments.
- Colonoscopy revealed over 200 retention polyps with adenomatous areas and mild atypia from cecum to rectum.
Findings:
- The patient underwent proctocolectomy with ileal pouch and sphincteric preservation using a mechanical suture.
- Pathological analysis confirmed retention polyps with adenomatous changes and mild atypia.
Implications:
- Surgical intervention can effectively treat severe cases of juvenile polyposis with significant complications.
- Successful ileal pouch reconstruction preserves sphincter function, leading to good long-term outcomes and quality of life.
Related Concept Videos
Multiple Allele Traits
The Concept of Multiple Allelism
Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Multiple Allele Traits
The Concept of Multiple Allelism
Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Barrett Esophagus-II: Clinical Manifestations and Management
Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...


