Demonstration of Cystine Crystals in Peripheral White Blood Cells in a Patient with Cystinosis

Abstract

CYSTINE-STORAGE disease (cystinosis or Lignac-> Fanconi disease) is an uncommon but intriguing disorder, the etiology and pathogenesis of which are unknown. The cardinal pathological finding is the deposition of large quantities of crystalline cystine in the tissues, especially in the reticuloendothelial structures and in the cornea and conjunctiva of the eye.In the case reported below, a patient with proved cystine-storage disease presented cystine crystals within the white blood cells of the peripheral blood. A review of the literature indicates that this observation has not previously been reported. The potential value of this finding in the diagnosis and study of . . .