Multiple endocrine neoplasia type IIa: a case report.

ABSTRACT

The authors reported a twelve year and four-month old girl who had prolonged fever for 2 weeks. Physical examination revealed a painless enlarged thyroid gland with firm consistency. Hyperparathyroidism was suspected because of hypercalcemia, hypophosphatemia, high level of serum alkaline phosphatase, and decreased density of long bones. Thyroid scan showed a cold nodule of the left upper lobe which subsequently proved to be a medullary thyroid carcinoma by high serum thyrocalcitonin level and pathological examination. Her 24-hour urinary vanillyl mandelic acid was in the normal range, and abdominal ultrasonography demonstrated normal adrenal glands. Multiple endocrine neoplasia type IIa (MEN IIa) was diagnosed by medullary thyroid carcinoma and hyperparathyroidism. However, the fully developed syndrome is characterized by the combined occurrence of medullary thyroid carcinoma, primary hyperparathyroidism, and pheochromocytomas. This syndrome is a rare, complex, and potentially lethal disease so early recognition and family screening are very important.