A 12Y male African-American patient presented with hypertension and intermittent headaches and was found with multiple bilateral pheochromocytoma, a systolic heart murmur, left ventricular hypertrophy and heart block. He had a history of congenital microcephaly, severe hearing loss, developmental delay, and cryptorchidism. Genetic analysis confirmed a c.238A>G (p.Ser80Gly) germline mutation in the VHL gene, but this mutation was not found in the parents suggesting a de novo mutation. He had no other notable family history. There was no history of polyuria, polydipsia, tachycardia, or sweating. Exams showed normal head morphology and no neurological abnormalities, normal sinus rhythm, no evidence of coarctation of the aorta or other structural anomalies, no evidence of papilledema, hemorrhages, exudates, retinal angiomas, or focal neurological signs. He was also negative for abdominal organomegaly, abdominal bruits, renal parenchyma abnormalities, hydronephrosis and cystic lesions or tumors of the pancreas.