Early onset Peutz–Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report

RATIONALE: Peutz–Jeghers syndrome (PJS) is currently defined as an inherited condition, also called a familial hamartomatous polyposis syndrome, characterized by the association between pigmented mucocutaneous lesions and hamartomatous polyps in the gastrointestinal tract, especially in the small bowel. PATIENT CONCERNS: We present the case of a 7-year-old male patients, diagnosed at the age of 3 years with PJS due to a surgical intervention for acute abdominal pain that revealed a rectal polyp associated with hyperpigmented maculae on the lips and oral mucosa. His family history revealed the same condition in his mother, who was diagnosed much later, at the age of 25 years. DIAGNOSES: The upper and lower digestive endoscopy revealed multiple polyps of different sizes within the stomach, and 2 polyps at 5 cm from the anal orifice. The barium enterography revealed 3 polyps within the ileum. INTERVENTIONS: We administered blood transfusions and both recto-anal polyps were surgically removed. OUTCOMES: The outcome was favorable and the patient was discharged with the recommendations for clinical assessment at least every 6 months, annual laboratory tests, but also follow-up of the detected polyps and screening by upper digestive endoscopy, barium enterography and colonoscopy every 2 years. LESSONS: Early onset of PJS presenting with polys is quite rare since they require time for their development manifesting usually after the first decade of life. Close monitoring is essential for PJS in order to prevent potential complications and early detect the development of related malignancies.