CYSTINOSIS- A RARE CAUSE OF SHORT STATURE

Cystinosis is a systemic disease caused by a defect in the metabolism of cystine, which results in accumulation of cystine crystals in most of the major organs in the body, notably the kidney ,liver, eye and brain. We report the clinical presentation of a child with short stature, rickets, sibling with same illness,a relative who died at childhood due to similar illness. Investigations revealed delayed bone age, hypophosphatemic rickets, proximal renal tubular acidosis, hypothyroidism and corneal crystals suggestive of cystinosis. Thus a diagnosis of cystinosis was made and the child is now on treatment with cysteamine.