Neurofibromatosis type 1, pheochromocytoma with primary hyperparathyroidism: A rare association
A 33-year-old gentleman, diagnosed to have neurofibromatosis type 1 at 14 years of age, presented to us with a history of low back ache for 3 years associated with headache difficulty in walking, urinary urgency, and constipation for 6 months. On examination his height was 149 cm, weight 56 kg, BMI 25.2 kg/m2, head circumference 55.4 cm, pulse 80/minutes, blood pressure 130/90-mm of Hg, and no postural drop in blood pressure. He had multiple neurofibromas with numerous café au lait spots with smooth edges all over the body the largest of which was present over the right leg measuring 15 × 10 cm, axillary freckling was noted bilaterally. He had scoliosis of the spine. His ophthalmic examination revealed lisch nodules with bilateral ptosis. Neurological examination revealed mild spastic quadriperesis with brisk deep tendon reflexes and equivocal plantars. Screening MRI scan of the spine cord was however did not reveal any compressive lesions but it revealed a right suprarenal mass measuring 28 × 20 mm and also a hyperintense lesion measuring 21 × 14 mm, posterior to the left lobe of thyroid. He had biochemical evidence of hypercalcemia (calcium 12 mg/dl; albumin 4.5 g/dl) hyperparathyroidism (PTH 741 pg/unit). Left inferior parathyroid adenoma was confirmed by an ultrasound, parathyroid scintigraphy [], and SPECT-CT []. His 24-hour urinary metanephrine level was 356 mcg (normal range <350 mcg/24 hours) and normetanephrine level was 937 mcg (normal range <600 mcg/24 hours). Right adrenal pheochromocytoma was confirmed on the CT scan [] and MIBG scan. This patient had features of neurofibromatosis type I (NF-1) with a left inferior parathyroid adenoma and a right adrenal pheochromocytoma. After adequate preparation he was taken up for focused parathyroidectomy with excision of left inferior parathyroid adenoma and right laparoscopic adrenalectomy. The postoperative period was uneventful. Histopathology confirmed pheochromocytoma of the right adrenal gland and a left parathyroid neoplasm with atypical features like nuclear atypia and capsular/vascular invasion, []. Immunohistochemistry of the tumor showed a low MIB-1 index [].