title: 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.
authors.affiliation: Department of Pediatrics, Rush Presbyterian St. Luke's Medical Center, Rush University Medical College, Chicago, IL, USA. fassadi@rush.edu
authors.forename: Farahnak K
authors.initials: FK
authors.lastname: Assadi
authors.forename: Richard H
authors.initials: RH
authors.lastname: Sandler
authors.forename: Paul W
authors.initials: PW
authors.lastname: Wong
authors.forename: May
authors.initials: M
authors.lastname: Salem
authors.forename: Lori
authors.initials: L
authors.lastname: Simenauer
mesh_terms: D002908:Chronic Disease; D003248:Constipation / Q000209:etiology*; D003554:Cystinosis / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male