SÍNDROME DE PENDRED. A PROPÓSITO DE UN CASO.

Objective: To present a clinical case of Pendred syndrome, a rare pathology in children that includes congenital deafness and goiter. Clinical case: Preschool female 5 years and 4 months of age, whose mother refers disease of 3 months of evolution characterized by progressive increase in volume of the anterior neck, without redness, heat, or pain; concomitantly drowsiness, constipation and hypoactivity. Physical Examination: Weight 14.700 Kg (goiter (Grade II). Neurological: poor communication with the examiner, she did not obey verbal commands, just by using sign language so that hypoacusia was diagnosed. The otorrino and neurology services pose sensorineural deafness. Laboratory test results: TSH: 24.20 mIU/mL, FT4: 0,426 ng/dL. Anti TPO and anti-tiroglobuline antibodies negatives. Total cholesterol 234 mg/dL. Greulich and Pyle bone age: 2.5 years (chronological age 5.3 years). Thyroid ultrasound: globular appearance of the thyroid gland, diffuse parenchymal, hypervascularization, right lobe of 4.35 cc, and left lobe of 4.50 cc. Perchlorate Test: 38% of radioactive iodine discharge (Positive). Pendred syndrome is diagnosed and treatment is initiated with levothyroxine 25 µg every day.. Conclusion: The prevalence of Pendred syndrome is reported around 7.5%. There is probably subdiagnosis, which should be avoided, considering that it is an autosomal recessive disease that requires treatment and appropriate genetic counseling, given the implications on psychomotor development and recurrence risk in the offspring.