Peutz-Jeghers Syndrome and Its Unusual Association With a Solitary Kidney

Abstract

Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastrointestinal (GI) tract, with pigmentation characterized by mucocutaneous pigmentation, gastrointestinal polyps and elevated cancer risk. The cancer risk is not only for gastrointestinal cancers, but also for cancers at other sites, including the breast, ovary, uterus, cervix, lung, and pancreas. Renal association including polycystic kidney disease, hamartoma and papilloma of the bladder, urinary tract polyps and renal caner has been previously reported with PJS. But to the author's knowledge a solitary kidney has not been reported. 16-year-old male patient was seen in the pediatric gastroenterology clinic for care regarding his most recently diagnosed PJS. Patient had been admitted a few weeks prior for severe abdominal pain with nausea and emesis. KUB demonstrated bowel obstruction and Exploratory laparotomy was subsequently performed with reduction of the intussusception, small bowel resection and removal of around 77 polyps from the small bowel with histology consistent with hamartoma's seen with PJS. He was then referred to the pediatric GI clinic to establish ongoing care related to the underlying diagnosis. The rest of the past medical was not significant. Maternal grandmother had been diagnosed with Colon cancer. Otherwise family history was unknown. Physical examination revealed multiple café-au-lait pigmented macules on the lips and buccal mucosa. Upper endoscopy and colonoscopy was performed. No polyps were noted and biopsies were normal. Laboratory tests indicated normal hemoglobin levels, blood count and liver and renal function. Subsequent Magnetic resonance imaging of the abdomen and pelvis was performed as part of the ongoing diagnostic work up of PJS. A left solitary kidney was noted. To our knowledge, this is the first reported case of a solitary kidney in a patient with PJS. A solitary kidney is a rare association that highlights the importance of evaluating structuraland functional abnormalities of the kidneys as part of the work-up.