Infantile cystinosis presenting as chronic constipation

Abstract

An infant presented with persistent constipation as the first clinical symptom of cystinosis before evidence of renal Fanconi's syndrome. The history of muscle weakness, failure to thrive, polydipsia, and polyuria prompted subsequent clinical and laboratory evaluations, leading to the correct diagnosis of cystinosis. Primary and persistent constipation as an initial manifestation of cystinosis has not been reported previously. Although rare, cystinosis should be considered in the differential diagnosis of constipation if other suggestive signs or symptoms are present.