Posterior reversible encephalopathy syndrome in cystinosis

Abstract

Cystinosis is a rare autosomal recessive disorder (CTNS gene n chromosome 17p13) based on a defective transport of cysine out of lysosomes leading to systemic accumulation of cystine. ith an incidence of about 1 in 100,000 live births there are urrently about 300–400 cases in the USA [1]. Main symptoms n childhood include end-stage renal disease, secondary Fanconi yndrome, hypothyroidism and photophobia. Late complications ccurring in adulthood include pulmonary dysfunction, myopahy and male hypogonadism. Neurological complications are rare, ccur later and can include cerebral atrophy/calcifications, menal deterioration, intracranial hypertension and hydrocephalus [2]. ith oral cysteamine treatment, leading to reduction of cystin ccumulation, and kidney transplantation, the prognosis can be ignificantly improved. Posterior reversible encephalopathy syndrome (PRES) is charcterized by oedema predominantly of the posterior cerebral egions and less commonly of the anterior region and deep hite matter. Symptoms include seizures, headache, altered menal status and stroke like symptoms [3]. The pathophysiology of RES is currently unclear but several associated conditions have een identified including hypertension, pre-eclampsia/eclampsia, mmune suppression, autoimmune diseases and infection/sepsis. ith symptomatic treatment in a neurointensive care setting progosis is usually benign with reversible clinical symptoms and