Cystinosis: Report of a Case

Abstract

Cystinosis is a hereditary autosomal recessive metabolic disorder in which increased cellular absorption of cystine causes its accumulation in lysozymes. Cystine is accumulated in reticuloendothelial cells of kidneys, cornea, and sclera as well as fibroblasts and leukocytes. This leads to development of the typical clinical symptoms.
The incidence rate of the disease is 1/26000 to 1/200000.
We report on an 8-month-old boy presenting with poor weight gain, anorexia, polydypsia, polyuria, restlessness, calmness in low-light environment, frequent vomiting and disturbance in bowel movements.
A sibling of the child and an uncle of his expired of the same disease.
Cystine crystals were observed in bone marrow smears and in corneae cystine precipitations were seen with slit lamp.
It is recommended to think to metabolic disorders, especially cystinosis, in children presenting with polydipsia and polyuria.