Case ReportRecurrent Ischemic Stroke in an Adult with Cystinosis: A Clinical–Pathological Case
Section snippets
Case Report
A 32-year-old woman with infantile nephropathic cystinosis presented with sudden onset of speech and gait disturbance. She had renal transplant when she was 12 years; she was on cyclosporine for 17 years and then on hemodialysis in the past 3 years and under cysteamine, levothyroxine, calcium, and folic acid. There were no vascular risk factors, except a systolic blood pressure of 160 mm Hg at admission. Neurologic examination showed severe bilateral visual loss, pendular nystagmus, right
Discussion
Cystinosis is an autosomal recessive lysosomal storage disease caused by CTNS gene defect coding for the lysosomal membrane protein cystinosin and leading to intralysosomal cystine accumulation, mainly in the kidney, liver, eye, and thyroid.1 Cystine crystals have been observed in the central nervous system; however, stroke has been rarely reported.2 There are few reports of cerebrovascular disease in patients with longstanding nephropathic cystinosis, the most common reported neurological
References (8)
- et al.
Cystinosis of the brain and spinal cord with associated vasculopathy
J Neurol Sci
(2009) - et al.
Cyclosporin A and atherosclerosis cellular pathways in atherogenesis
Pharmacol Ther
(2010) - et al.
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Nat Genet
(1998) - et al.
Central nervous system involvement in nephropathic cystinosis
J Neuropathol Exp Neurol
(1990)
Cited by (5)
Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity
2024, Journal of the Neurological SciencesCystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis
2015, NefrologiaCitation Excerpt :Acute presentation: epilepsy, stroke, encephalopathy, cephalalgia54–57 Subacute/progressive presentation: intracranial hypertension, cerebral atrophy, ataxia, pyramidalism, gait disorders, basal and periventricular lymph node calcifications, demyelination of white matter, mental deterioration58–66 Neurocognitive alterations:67–73 in cystinotic patients, a specific profile of alterations in visual-motor integration, visual memory, maintained attention, planning, motor processing speed and arithmetic calculation have been described.
Adult complications of nephropathic cystinosis: a systematic review
2021, Pediatric NephrologyNeuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
2020, Orphanet Journal of Rare Diseases