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Juvenile polyposis with macrocephaly and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report

N M Nandini1, Th Bipin Singh, Anil Kumar

  • 1Department of Gastroenterology, JSSMC and Hospital, Ramanuja Road, Mysore. nanda_1965@yahoo.co.in

Indian Journal of Pathology & Microbiology
|November 22, 2005
PubMed

Insights

A rare case of juvenile polyposis syndrome in a child with severe anemia, malnutrition, and pneumonia is presented. This condition, associated with macrocephaly and mental retardation, may increase the risk of gastrointestinal cancer.

Area of Science:

  • Pediatric Gastroenterology
  • Clinical Genetics
  • Rare Diseases

Background:

  • Juvenile polyposis syndrome (JPS) is a rare gastrointestinal disorder characterized by the development of multiple hamartomatous polyps.
  • JPS is associated with an increased risk of gastrointestinal adenocarcinoma.
  • Co-occurrence of JPS with macrocephaly and mental retardation is exceptionally rare, suggesting potential syndromic associations like Ruvalcava-Myhre-Smith syndrome.

Observation:

  • A 1.5-year-old male presented with rectal bleeding, severe anemia, protein-energy malnutrition, and pneumonia.
  • Colonoscopy revealed colonic polyposis, and upper endoscopy identified a duodenal polyp.
  • Histopathological examination confirmed Juvenile Polyposis Syndrome.

Findings:

  • The patient exhibited macrocephaly and mental retardation, suggesting a potential co-occurrence with Ruvalcaba-Myhre-Smith syndrome.
  • The combination of JPS with macrocephaly and intellectual disability is exceptionally rare.
  • Surgical intervention with total colectomy and ileo-rectal anastomosis was performed.

Implications:

  • Early diagnosis and management of JPS are crucial due to the malignant potential of the polyps.
  • This case underscores the importance of considering syndromic associations in pediatric patients with JPS.
  • Further research into the genetic underpinnings and long-term outcomes of JPS with associated developmental disorders is warranted.

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