CLINICAL CHARACTERISTICS OF GENETICALLY PROVEN PEUTZ JEGHERS SYNDROME

Peutz Jeghers Syndrome in children

Abstract

Objective:

The purpose of this study was to describe the clinical characteristics of genetically proven PJS patients in Pakistani patients.

Study design: Cross-sectional study

Place and duration of study: This study was conducted at the Department of Pediatric Gastroenterology Department of Children’s Hospital and University of child health Sciences, Lahore between the periods of January 2020 to December 2022.

Material & Method:

Ten children were diagnosed as PJS. The demographic, clinical and genetic data was reviewed and described. Whole blood sample was taken from each subject and their parents for genomic DNA analysis, entire coding sequence of STK11 gene was amplified by PCR and analyzed by direct sequencing.

Results:

There wereten children with PJS and mean age of presentation was 8.8±1.2 years. Family history was positive in 80% and de novo status was observed in one patient. The major clinical presentation was bleeding per rectum with abdominal pain complicated with intussusception followed by gut resection. Endoscopic examination showed polyps in the stomach, small bowel and colon. All patients have STK11 gene mutation, four different variation types are found i.e. frame shift (4), stop gained (3), nonsense (1) and splicing (1).

Conclusion:

PJS patients can present at any age and polyps can be found in any part of gastrointestinal tract. We found 1 novel and 2 previously known STK11 gene mutations in Pakistani children.