Two Zebras in a Corral

Abstract

Abstract: Pediatric hypertension is rare, and an underlying cardiac, renal, or endocrine etiology should be considered. We report an adopted 26-year-old white man with asymptomatic hypertension identified at age 14 during a sports examination. His medical history was notable for ulcerative colitis. The physical examination revealed hypertension despite a body mass index of 20.3 kg/m2. A left adrenal mass enhanced on T2-weighted magnetic resonance imaging. The presumptive diagnosis was pheochromocytoma. A 7.0 × 6.0 × 3.5-cm lesion was resected without complication, and the hypertension resolved. Over the next 3 years, he developed thyroid nodules, a presumptive osteochondroma, and benign fibrous lesions. By age 15, his colitis symptoms worsened and multiple polyps were observed. Polyps were identified later in the duodenum and stomach as well. A desmoid tumor involved the superior mesenteric vasculature. Sequential surgical resections left only residual small bowel. Review of adrenal gland histology revealed sheets and nests of lipid-poor epithelioid cells with vesicular nuclei and variably prominent nucleoli. Pseudoglandular architecture and degenerative hemorrhagic “angiomatoid” change was present. Findings were diagnostic of adrenal cortical adenoma, but not pheochromocytoma. The clinical presentation is consistent with Gardner syndrome. The location and nature of mutations in the adenomatous polyposis coli tumor-suppressor gene often determine the presence of extraintestinal disease and disease severity. Seven percent to 13% of patients with Gardner syndrome have adrenal lesions. Most are nonfunctional. Functional lesions typically secrete cortisol. Although such lesions may not come to the attention of endocrinologists because of their nonsecretory status, endocrinologists should be aware of the syndrome and its diverse manifestations.