A pediatric case presented with posterior reversible encephalopathy due to cystinosis: Case report

Abstract

Cystinosis is an inherited autosomal recessive disorder, which the defect involves cystinosin, the membrane transport protein playing role in amino acid cystine metabolism. Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiographic entity of heterogeneous etiologies that are grouped together because of similar findings on neuro-imaging and associated symptom complex of headache, vision loss, altered mentation, and seizures. We describe a 10-year-old male patient with nephropathic cystinosis being treated with peritoneal dialysis was admitted to emergency service after generalized tonic clonic seizures at home. Initial brain diffusion weighted magnetic resonance imaging indicated that particularly bilateral parieto-occipital regions revealed restricted diffusion areas and cytotoxic edema elicited neural parenchymal insult. In our case, hypertensive crisis related to ineffective peritoneal dialysis and brain tissue damage due to cystinosis may be able to provide a basis for PRES. Appropriate and prompt treatment is essential to protect the patients from harmful effects of irreversible brain injury.