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October 1968

Appendicitis in a Child With Cystinosis

Author Affiliations

From the Section on Human Biochemical Genetics, National Institute of Arthritis and Metabolic Diseases (Drs. Schneider and Seegmiller), and the Surgery Branch, National Heart Institute (Dr. Nolan), Bethesda, Md.

Arch Surg. 1968;97(4):565-567. doi:10.1001/archsurg.1968.01340040061009

CHILDREN with cystinosis rarely live beyond 10 years of age.1-3 Because of their early death and the rarity of this disease it is not surprising that there have been no previous reports (to our knowledge) of appendicitis occurring in children with cystinosis. The occurrence of both disease processes in the same patient presented an interesting diagnostic problem.

Report of a Case  The patient (NIH-06-33-53) was a 3½ -yearold white boy who had cystinosis. The diagnosis was made when he was 20 months of age on the basis of the following findings: (1) renal tubular defects consistent with the Fanconi syndrome, (2) demonstration of cystine crystals in bone marrow aspirates, (3) refractile bodies in the cornea and conjunctivitis seen by slit-lamp examination, and (4) retinopathy typical of cystinosis.4 A more detailed clinical description may be found elsewhere.4,5 For the previous 18 months his diet had consisted of a

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