Sep 22, 2020

An unusual presentation revealing Peutz-Jeghers syndrome in adult

Annals of Medicine and Surgery
Seifeddine Ben HammoudaAbdelfattah Zakhama

Abstract

Peutz-Jeghers syndrome (PJS) is a rare hereditary disease characterized by hyperpigmentation on the lips and oral cavity and gastrointestinal hamartomatous polyps. The most common complications in PJS patients are bleeding, bowel obstruction and intussusception. We hereby report a case of a 33-year-old female, without a family history of the disease, who presented to the emergency room with acute abdominal pain, bloating and not passing gas. On abdominal examination, upper abdominal and periumbilical tenderness was found. Computed tomography (CT) of the abdomen demonstrated suspected ascending colon intussusception. The patient underwent a mid-line laparotomy that showed an ileocolic intussusception. Reduction of this intussusception was successfully done with resection of the affected segment that showed presence of two pedunculated polyps. The specimen was sent thereafter to our department for histopathological evaluation, which confirmed the diagnosis of hamartomatous Peutz-Jeghers polyps with no malignancy. Afterwards, the patient was carefully reexamined and the physical examination revealed multiple pigmented spots on the face and lips. Thus, the diagnosis of Peutz-Jeghers syndrome was made. PJS is a rare autosomal domina...Continue Reading

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Mentioned in this Paper

Peutz-Jeghers Syndrome
Accident and Emergency Department
Individual
Gastrointestinal Hamartomatous Polyps
Family History
Surveillance for cancer
Report (document)
Abdominal procedure
Proteins
Undiagnosed

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