Case Report
Recurrent Ischemic Stroke in an Adult with Cystinosis: A Clinical–Pathological Case

https://doi.org/10.1016/j.jstrokecerebrovasdis.2013.06.021Get rights and content

A 32-year-old woman with infantile nephropathic cystinosis presented with cystinosis and recurrent ischemic stroke. The neuropathological description demonstrates that recurrent stroke was caused by intracranial stenosis and showed evidence of cystinosis brain involvement. There are few reports of cerebrovascular disease in patients with longstanding nephropathic cystinosis. This case reinforces that cerebrovascular disease can be a cause of neurological impairment and disability in patients with longstanding nephropathic cystinosis, with implications on primary stroke prevention strategies in these patients.

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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

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Cited by (5)

  • Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

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    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.

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