Medical Mystery of the Week

    You have recieved your COVID19 immunizations and have returned to your outpatient practice. However, you are still doing telemedicine, and are shown the picture of a 10-year-old boy who presents with his third episode of acute onset abdominal pain. The only other information you are provided are pictures of the boy's face and hands an an abdominal x-ray taken during the last episode of abdominal pain (see below). 

   
   What is your diagnosis, what test(s) would you order to confirm your suspicions, and what treatment, if any, do you recommend?

DIAGNOSIS: Peutz-Jeghers syndrome (PJS) presenting with intussusception of the bowel.  
PJS is a rare hereditary condition characterized by punctate mucocutaneous pigmentations ("freckling"), the presence of multiple small intestine hamartomatous polyps (PJ polyps), and a predisposition to developing  bowel intussusception and in adulthood, cancer of the gastrointestinal tract, pancreas, breast, cervix, endometrium and ovaries. The overall cancer risk in PJS is estimated at 55-85%.



   Intussusception of the bowel is a life threating condition which requires immediate diagnosis and treatment. The sensitivity of radiography in confirming the diagnosis is 48% whereas the sensitivity of abdominal ultrasound, the procedure of choice, is 97.9% with a specificity of 97.8%.
   In hemodynamically stable children enema reduction of ileocolic intussusception can be attempted in the emergency room. Critically ill hemodynamically unstable children should be admitted for surgical assessment and treatment .
   PJS is caused by heterozygous germline pathogenic variants in the serine threonine kinase 11 tumor suppressor gene (STK11/LKB1 gene) and follows an autosomal dominant inheritance pattern. Individuals suspective of having PJS should be offered genetic counselling and  testing. Surveillance should be offered to all PJS patients in ordered to minimize their risk of intussusception and cancer.