CASE REPORT [Image Omitted. Please see PDF] A 19-year-old Saudi male presented to the emergency department with one-week history of polyuria and polydipsia. Physical examination findings were unremarkable. His father had died as a complication of metastatic renal carcinoma. Initial workup demonstrated random blood glucose of 16.3 mmol/L and HbA1C of 9.1%. Urinalysis was positive for ketone bodies, and blood analysis was positive for traces of ketone bodies. Patient was acidotic with pH of 7.3 and bicarbonate levels of 19 mmol/L. A presumptive diagnosis of diabetic ketoacidosis (DKA) was made; immune markers including glutamic acid decarboxylase (GAD) autoantibodies and islet cell autoantibodies were sent to exclude type I diabetes mellitus and maturity onset diabetes of the young. Intravenous insulin infusion and other appropriate management were initiated to control blood sugars and to correct the associated DKA. Later, the diagnosis of type I diabetes mellitus was confirmed with the presence of islet cell autoantibodies and that C-peptide level were within normal range. [Image Omitted. Please see PDF] Ultra-sound abdomen was performed as the patient complained of persistent abdominal pain even after correction of DKA. Ultrasound abdomen demonstrated an incidental finding of a well-defined hypo-echoic soft tissue mass measuring 3.7 x 4.7 cm in the left supra-renal region. Computerized tomography (CT) scan was performed for further evaluation. It demonstrated a 3.7 x 4.0 cm rounded lesion in the left adrenal gland with intense enhancement, suggestive of pheochromocytoma. A small hypo-dense lesion was also noted in the left renal upper pole, measuring 2.3 cm, with heterogeneous enhancement suggestive of a solid mass. The CT scan also demonstrated multiple rounded cystic lesions in the head, body, neck and tail of the pancreas representing pancreatic cysts. The above findings collectively were suggestive of phakomatosis disorders, in particular, vHL disease. Chromosomal studies were sent for detection of genetic mutations and confirmation of the diagnosis. MRI abdomen was highly suggestive of a left sided pheochromocytoma (Figure 1). It also demonstrated multiple cystic lesions in the pancreas (Figure 2) and bilateral cortical lesions in the kidneys, which demonstrated internal septal enhancement in the post gadolinium injection phase, highly indicative of renal cell carcinoma. Nuclear medicine scan demonstrated increased tracer uptake in the left suprarenal gland. Meanwhile, laboratory studies demonstrated increased serum normetanephrine level of 11.80 nmol/l, urine metanephrine level of 400nmol/24hrs, and urine normetanephrine level of 1210 nmol/24hrs. Serum cortisol, aldosterone and renin levels were within normal limits. A diagnosis of pheochromocytoma was confirmed and patient was started on anti-hypertensive medications and scheduled for surgical removal of the pheochromocytoma and the suspicious renal masses. Patient underwent robot assisted laparoscopic left adrenalectomy and left renal mass excision. Two renal nodules were removed. The post-operative course was unremarkable and patient was discharged home in stable condition. Histopathologic evaluation confirmed the diagnosis of pheochromocytoma; the renal masses were determined as renal clear cell carcinoma Furham grade I

His father had died as a complication of metastatic renal carcinoma.