A 9-year-old boy with a paternal family history of Peutz-Jeghers syndrome undergoes genetic testing | Medibuddy
20th July 2023

A 9-year-old boy with a paternal family history of Peutz-Jeghers syndrome undergoes genetic testing

A 9-year-old boy with a paternal family history of Peutz-Jeghers syndrome undergoes genetic testing, which confirms he possesses an STK11 gene mutation. He is asymptomatic with regular bowel motions, however, he has numerous hyperpigmented lesions on his lips and buccal mucosa. He undergoes a baseline capsule endoscopy which shows 3 polyps within his small bowel. He is seen in paediatric gastroenterology clinic to discuss management.

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