Cystinosis: An “eye opener”

Abstract

A much-quoted aphorism in medicine is “Listen to your patient and they are telling you the diagnosis”. Most often, the history reveals the diagnosis and sometimes, it is all that is required to make the diagnosis. Unfortunately, in this age of modern technology-based medicine, many busy clinicians fail to get a proper history and miss important dots in the history that connect to the diagnosis. This is clinically relevant, as a specific diagnosis completely alters the nature of treatment and thereby improves prognosis. We present a young boy with infantile cystinosis, who was evaluated in at least three tertiary referral centers prior to our review and branded as having “renal rickets due to a posterior urethral valve”. Two important clues from history that clinched a clinical diagnosis of infantile cystinosis in this boy with renal rickets were the father's comment that “His elder daughter died at 7 years of age with a similar condition” and the mother's complaint that “her son cannot see television properly, his eyes become red and tears roll through his eyes”. Our aim is to open the eyes of medical community to this rare but treatable condition, especially in young children presenting with renal rickets, photophobia and short stature.