ACTA ENDOCRINOLOGICA (BUC)

Context. Cholelithiasis in childhood is uncommon, while in infancy it is rarely reported. An extremely rare form of cholelithiasis occurs with pseudohypoaldosteronism (PHA). In these patients gallstone formation has been attributed to dehydration and salt-wasting, starting from fetal life. Case report. A neonate with PHA presented with dystrophy, vomiting, hyponatraemia, hyperkalaemia, metabolic acidosis and gallstone formation. Plasma renin activity and aldosterone concentrations were elevated and urinary Na excretion was increased. Gallstones automatically subsided at the age of six months after appropriate sodium chloride supplementation. Conclusions. Infants with PHA , even without signs of salt wasting, should be investigated for cholelithiasis. Inversely, in infants with pertinent electrolyte abnormalities and cholelithiasis, PHA should be considered among the possible diagnoses.