Peutz–Jeghers Syndrome: A Rare Genetic Cause of Intestinal Obstruction

Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder. The mutation found in the serine threonine kinase (STK11)/ liver B1 (LKB1) gene on chromosome 19. It impacts 1 out of 50000–200000 individuals. Clinical menifestations include hyperpigmented lesion oral cavity, lips, fingertips and perianal region. Abdominal pain, Anaemia, Gastrointestinal (GI) bleeding, GI polyp, Intestinal obstruction (mostly due to intussusception) malignancy are closely interlinked with disease. We present 21 years old lady characteristic lesions lips multiple polyps tract. patient was presented general emergency department abdominal pain vomiting. Detail workout revealed diagnosis as PJS. have plotted according WHO criteria lacking genetic analysis facility. Patients PJS at high risk intestinal extraintestinal malignancy. Early polypectomy along surveillance for recurrence may prolong cancer free lifetime.
 CBMJ 2023 January: Vol. 12 No. 01 P: 115- 120