Importance of early detection of juvenile polyposis syndrome: A case report and literature review.

ABSTRACT:

Rationale

Juvenile polyposis syndrome (JPS) is a rare genetic gastrointestinal disorder with hidden and variable clinical features. Early detection is crucial for good prognosis.

Patient concerns

A 20-year-old female went to hospital for fever, and was unexpectedly diagnosed as JPS during treatment. She reported no clinical signs or family history of JPS.

Diagnosis

Blood routine examination on hospital admission suggested a moderate anemia. Bone marrow cytology and leukemia fusion gene test were performed to rule out leukemia. Other examinations including ultrasound and computed tomography were also conducted for differential diagnosis. Further electronic colonoscopy identified more than 20 pedicle polyps located at her ileocecum and rectum. Mutation analysis detected

SUBMITTER: Shen N 

PROVIDER: S-EPMC7738017 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature