Abstract
We describe two unrelated patients, a boy and a girl both referred at the age of 4 yrs because of sudden onset obesity, polyphagia, hypodipsia, hypersomnolence, mood alteration with outbrusts of hysterical laughter or cry, episodes of muscular weakness. They were found to be suffering from an hypotalamic syndrome of unknown origin. Both showed no sense of thirst even with chronic hypernatremia and hyperosmolality, severe acrocyanosis, profuse sweating, episodes of enuresis with polyuria and excretion of inappropriately dilute urine. ADH determination, performed when the patients were in good metabolic control, was in the lower normal limits. Other endocrinological investigation showed hyperprolactinemia and low GH response to provocative stimulation in the two patients. EEG revealed non-specific slow wave changes in the boy and multifocal high amplitude spikes and sharp transients in the girl. X rays of skull CT scan and MNR were normal. A defective osmoreceptor function is suspected in both patients.
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Livieri, C., Bozzola, M., Lorini, R. et al. ESSENTIAL HYPERNATREMIA AS A RARE CAUSE OF CHILDHOOD OBESITY. Pediatr Res 33 (Suppl 5), S28 (1993). https://doi.org/10.1203/00006450-199305001-00148
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DOI: https://doi.org/10.1203/00006450-199305001-00148