PEUTZ JEGHERS SYNDROME - DIAGNOSIS AT THE TIME OF OCCLUSIVE COMPLICATION

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Peutz Jeghers syndrome is a rare, genetically conditioned, autosomal dominant condition characterized by gastrointestinal hamartomatous polyps, cutaneous mucosal pigmentation and increased risk of neoplasia. Frequent diagnosis is due to melanin stains, evident in the first years of life, and which fades with age. We present the case of a 24-year-old patient who has presented with the diagnosis of intestinal occlusion. An earlier CT scan describes a tumor formation that occupies the entire pelvis and the lower abdominal floor with a probable origin of digestive tract. The clinical examination at admission revealed hyperpigmentation in the lips, oral and tegumentary mucosa, and the suspicion of the Puetz Jeghers syndrome was raised. Intraoperatively there are found three tumours on the jejunum, the distal one causing an invasion of about 1.5 m long, with necrosis of the respective segment for which enterectomy and enteroenterostomy were performed. The histopathological examination performed from the surgically resected piece confirms the diagnosis. The teachings based on this case take into account both the necessity of a correct and fully performed clinical examination, especially the need for the patient's adherence to a follow-up management of the evolution of the disease. Rare diseases represent a challenge for the practitioner through the low incidence, but the application of therapeutic management to these patients should be guided by research conducted in specialized centers.