Peutz-Jeghers Syndrome: Need for Genetic Charting
Need for Genetic Charting
Keywords:
Peutz-Jeghers Syndrome, Intussusception, Pedigree Analysis, Hamartomatous PolypsAbstract
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant inherited disorder with characteristic melanin pigmentation and hamartomatous polyps in the gastrointestinal tract. This syndrome is associated with increased risk of gastrointestinal, pancreatic, lung, breast, ovarian, uterine and testicular malignancies, hence timely diagnosis and regular follow up are necessary. Here we are presenting a case of a 15-year-old female who presented with complaints of abdominal pain, vomiting, and loose stools. The CT scan showed a large jejunoileal intussusception. Intraoperatively the intussusception was reduced and resected. The jejunum was filled with multiple polyps. A microscopic examination from the polyps showed a complex glandular architecture with the presence of smooth muscle bundles intermixed with lamina propria, consistent with hamartomatous polyps. The patient was re-examined to find possible evidence of PJS. She had mucocutaneous pigmentation on lips and medial aspects of eyes. Pedigree analysis of the family revealed that her siblings, father, grandmother and great grandfather also had brown macules on their lips. She was on the ventilator and expired 3 days post-surgery due to cardiac arrest and anastomotic leakage. The family was further advised to follow up and screening to avoid future complications and malignant transformation.
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