[Diffuse and binodular goiter in a patient with tuberous sclerosis].

Tuberous sclerosis complex is hereditary multisystemic, neurocutaneous disorder characterized by hamartomatous lesions mainly involving the brain, skin and viscera. Thyroid gland is rarely affected in these patients. Case history of a patient with tuberous sclerosis complex and diffuse and binodular goiter was presented. No epileptic seizures occurred despite multiple intracranial calcifications, cortical and subependimal tubers, revealed by neuroimaging. Borderline intellectual functioning was determined. Ultrasonographic findings of the heart, abdomen and pelvis were normal. Bone radiographs revealed multiple cystic lesions of the metacarpal, metatarsal and terminal phalanges. Clinical, endocrine and metabolic evaluations were performed because of anxiety, mild weight loss, transient problems of swallowing and breathing complaints, developing when she was 39 years old. Palpable diffuse and asymmetric thyroid enlargement was found. Laboratory tests of thyroid function, ultrasonographic examination and scintiscanning of the thyroid gland and patohistological analysis of fine-needle aspiration biopsy revealed the euthyroid, inactive, diffuse and binodular goiter. Unusual association of goiter and tuberous sclerosis was discussed.