Case Report

Volume: 4 | Issue: 2 | Published: Mar 07, 2020 | Pages: 70 - 74 | DOI: 10.24911/ejmcr/173-1573148217

Peutz-Jeghers syndrome


Authors: Nagina Shahzadi , Nadeem Hashmat , Naureen Kanwal Satti , Lubna Tabassum


Article Info

Authors

Nagina Shahzadi

Paediatric Gastroenterology, Children Hospital Faisalabad, Faisalabad, Pakistan

Nadeem Hashmat

Department of Emergency Medicine, King Saud University, Riyadh, Saudi Arabia

Naureen Kanwal Satti

Department of Paediatrics, King Saud University, Riyadh, Saudi Arabia

Lubna Tabassum

Family Medicine Specialist, King Saud University, Riyadh, Saudi Arabia

Publication History

Received: November 07, 2019

Revised: February 11, 2020

Accepted: February 18, 2020

Published: March 07, 2020


Abstract


Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition presenting with mucocutaneous pigmentation. We report a rare condition of PJS in an 11-year-old female. Case Presentation: An 11-year-old girl, previously healthy and developmentally normal, presented to the emergency department of the hospital with a 1-week history of vomiting and abdominal pain. She was given symptomatic treatment and referred to pediatric gastroenterology for further management and diagnosis based on the physical findings. The examination findings included hyperpigmented macules on fingertips, toes, lips, and oral mucosa. She had a history of rectal polypectomy in the past. Parents were cousins, but there was no significant family history. She was diagnosed as PJS based on her physical findings and multiple gastric polyps on endoscopy. Conclusion: PJS is characterized by mucocutaneous pigmentation and multiple gastrointestinal polyps. Rectal polyp can be a clue to the syndrome even before the appearance of hyperpigmented macules. They need lifelong follow-up because they are prone to gastrointestinal complications and malignancies.

Keywords: Abdominal pain, gastrointestinal polyps, mucocutaneous hyperpigmentation, Peutz-Jeghers syndrome, intestinal polyposis, green


Pubmed Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum. Peutz-Jeghers syndrome. EJMCR. 2020; 07 (March 2020): 70-74. doi:10.24911/ejmcr/173-1573148217

Web Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum. Peutz-Jeghers syndrome. https://ejmcr.com/articles/1456 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1573148217

AMA (American Medical Association) Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum. Peutz-Jeghers syndrome. EJMCR. 2020; 07 (March 2020): 70-74. doi:10.24911/ejmcr/173-1573148217

Vancouver/ICMJE Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum. Peutz-Jeghers syndrome. EJMCR. (2020), [cited December 25, 2024]; 07 (March 2020): 70-74. doi:10.24911/ejmcr/173-1573148217

Harvard Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum (2020) Peutz-Jeghers syndrome. EJMCR, 07 (March 2020): 70-74. doi:10.24911/ejmcr/173-1573148217

Chicago Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum. "Peutz-Jeghers syndrome." 07 (2020), 70-74. doi:10.24911/ejmcr/173-1573148217

MLA (The Modern Language Association) Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum. "Peutz-Jeghers syndrome." 07.March 2020 (2020), 70-74. Print. doi:10.24911/ejmcr/173-1573148217

APA (American Psychological Association) Style

Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum (2020) Peutz-Jeghers syndrome. , 07 (March 2020), 70-74. doi:10.24911/ejmcr/173-1573148217