Peutz-Jeghers Syndrome: Lessons to be Learned in the Clinical Diagnosis

• Published in: Journal of Indian Association of Pediatric Surgeons 2023-05, Vol.28 (3), p.218-222
• Main Authors: Shukla, Ram Mohan, Tiwari, Pooja, Dariya, Samprati, Jain, Sarvagya, Sharma, Shashi Shankar, Laddha, Ashok, Lahoti, Brijesh Kumar, Thanna, Hemant
• Format: Article
• Language: English
• Subjects: Original
• ISSN: 0971-9261; 1998-3891
• DOI: 10.4103/jiaps.jiaps_197_21

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disease presenting with hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on lips and oral mucosa. The incidence of this syndrome is approximately 1 in 1,20,000 births. In this article, we are presenting 11 cases of PJS which were misdiagnosed and patients were compelled to visit hospital repeatedly. All these cases were diagnosed based on clinical suspicion, family history, and histopathological examination of specimens. Most of the cases presented with intussusception and required emergency surgical management. PJS can be diagnosed by the presence of microscopically confirmed hamartomatous polyps and a minimum of two of the following clinical criteria: Family history, mucocutaneous melanotic spots, and small bowel polyps with bleeding per rectally. The diagnosis can be missed if the melanotic spots on the face are missed. Routine investigations, imaging, and endoscopy were done in all cases. PJS patients need regular follow-up due to chance of recurrence of symptoms and susceptibility to cancer. PJS needs a high index of suspicion for diagnosis in cases of recurrent abdominal pain with bleeding per rectum. Proper family history and meticulous clinical examination for melanosis are very important to prevent the misdiagnosis of these cases.