الملخص الإنجليزي
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of
the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and
extra renal manifestations. There are three types of cystinosis, infantile nephropathic cystinosis being the most
severe form. In this report we present the classic clinical features of nephropathic cystinosis in an Omani child.
This condition remains quite rare in the Middle East and is the first reported case of nephropathic cystinosis in the
Omani population.
