A 17-year-old boy was presented to GI clinic with generalized weakness and episodic sharp abdominal pain. He had two exploratory laparotomies in 2006 and 2008 for ileo-ileal intussusception. He had no family history of GI disorders. Physical examination revealed pigmentation around the lips, face, and oral mucosa . Laboratory data were unremarkable except for microcytic, hypochromic anemia with hemoglobin of 11.4 gm/dl. An abdominal computed tomography scan (CT) was performed revealing multiple intraluminal mass lesions, the largest one being 3.2 × 2.8 cm in small bowel loops and few of them were resulting in intussusception; however, there was no bowel obstruction noted. A large necrotic lymph node which measured 2.5 × 2.4 cm was identified in left para-aortic location . CT scan-guided left para-aortic lymph node biopsy was performed and histological examination revealed a neoplastic mass composed of large polygonal cells arranged in compact aggregates with abundant finely granular eosinophilic to clear cytoplasm with distinct cell boundaries. Nuclei were round to oval and appearing mild to moderate pleomorphic and hyperchromatic. These cell nests were characteristic of paraganglioma . Special glycogen stains (PAS with diastase) exhibited patchy glycogen. Immunohistochemically, tumor cells were positive for S-100 protein, chromogranin A, synaptophysin, vimentin and inhibin. Morphological and immunohistochemical features were consistent of extra-adrenal paraganglioma. His 24-hour urinary vanillyl mandelic acid (VMA) levels of 13.0 mg/24 hour (Normal: <13.6 mg/24 hour) was border line elevated. Whole body scintigraphy with 131-I labeled meta-iodobenzylguanidine (MIBG) revealed focal uptake at the level of the D12/L1 on left to mid line corresponding to the neoplastic growth noted on CT.
Melanin pigmentation on lips and face
CT scan abdomen demonstrates intraluminal masses leading to intussusception (thick arrows) and a large necrotic lymph node in left para-aortic location (thin arrow)
Figure 3 Histological examination showed findings suggestive of a paraganglioma. Large polygonal cells arranged in compact aggregates, exhibit abundant finely granular eosinophilic to clear cytoplasm with distinct cell boundaries, and round to oval pleomorphic (more ...)
Gastroscopy revealed multiple diminutive gastric polyps and pedunculated duodenal polyp 1.5 cm in size, removed with snare. Colonoscopy revealed multiple pedunculated polyps about 2-3 cm in size, 10 polyps were removed endoscopically with polypectomy snare . Histopathological examination revealed the characteristic PJS polyp consisting of a branching framework of connective tissue and smooth muscle lined by normal intestinal epithelium, rich in goblet cells; elongated and convoluted glands and an arborizing pattern of growth .
Endoscopic view of pedunculated colonic polyp
Histologically, PJ polyps consist of a branching framework of connective tissue and smooth muscle lined by normal intestinal epithelium, rich in goblet cells. The polyps have elongated and convoluted glands and an arborizing pattern of growth
Exploratory laparotomy and enteroscopy were performed and multiple, multilobulated, broad-based polyps were excised from proximal and distal jejunum. Para-aortic circumscribed, hard 4 × 3 cm mass with feeding vessel was excised.
As a result, a final pathological diagnosis of “extra-adrenal paraganglioma” with PJS was made. The patient's postoperative period was uneventful, and the symptoms of recurrent abdominal pain resolved. He is presently under regular and close follow-up.