Peutz-Jeghers syndrome from the point of view of a radiologist and an endoscopist

Abstract

INTRODUCTION: Peutz-Jeghers syndrome (PJS) is a rare (orphan) hereditary disease with a family history, primarily characterized by massive polyposis of the gastrointestinal tract and its complications. Every year, the syndrome is registered in 1 patient per 25,000–300,000 population. OBJECTIVE: To demonstrate the effectiveness of the combined use of diagnostic radiology and endoscopic imaging techniques in the diagnosis of this syndrome and its complications. A case report of a patient aged 47 years is given. A patient complained of persistent gastrointestinal bleeding, thrombosis of the arteries of the upper extremity, ventral hernia after the elimination of intestinal intussusception. A patient was admitted to the A. V. Vishnevsky NMRC of Surgery of the Ministry of Health of Russia (Moscow) to determine the tactics of treatment. Computed tomography of the abdominal organs and CT angiography of the upper extremities, esophagogastroduodenoscopy and colonoscopy were performed. CONCLUSION: The difficulties of the diagnosis and treatment of PJS and its associated complications were illustrated. A brief review of the literature (21 publications) by Russian and foreign authors on the problems of diagnosis, clinical manifestations and treatment of PJS were performed. According to the performed studies, total gastrointestinal polyposis, thrombosis of the arteries of the upper left limb, ventral postoperative hernia were revealed. Taking into account the ongoing complications of PJS, the patient was prescribed a gastrectomy.