Peutz-Jeghers syndrome. Case report

Abstract

Introduction: Peutz-Jeghers syndrome is a rare disease with autosomal dominant inheritance. It is characterized by the appearance of hyperpigmented macules on the lips, oral mucosa and other mucous membranes of the body. It is associated with gastrointestinal hamartomatous polyposis.

Objective: to present the case of a pediatric patient with Peutz-Jeghers syndrome, in whose diagnosis the use of imaging techniques was essential.

Case presentation: six-year-old female patient. She presented recurrent abdominal pain, mucous skin pallor, and brown macular lesions on the mucous membranes of the upper and lower lips and the perioral region. In the complementary examinations, moderate anemia was detected. Imaging examinations were carried out, in which they observed thickened, fixed intestinal loops with little perstasis. The genetic study confirmed that the patient was positive for Peutz-Jeghers syndrome, and her father was a carrier.

Disccusion: the incidence of the disease is one case in 200 000. Its mortality rate is high, but the prevalence rate is low. The diagnosis is established through four major criteria; all include polyps, confirmed by histological examination. Ultrasound is essential for the detection and description of parietal thickening.

Conclusions: the patient met the clinical criteria for the suspected diagnosis of Peutz-Jeghers syndrome. Imaging studies were essential to establish the diagnosis, confirmed by histological examination and genetic studies. The patient did not present neoplasms, due to her young age. For this reason, she is regularly monitored in consultation