Abstract
Cerebral disorders are nowadays seen as a feature of nephropathic cystinosis. Describing specific cognitive profiles in children with cystinosis may help to elucidate the cause of the impairments seen. A 9-year-old girl with nephropathic cystinosis had a progressive decline in mental functioning, in particular severe memory problems. None of the cases reviewed described memory problems at such a young age, so it is difficult to ascertain the possible cause of the impairment. Although few cases with dementia are reported, there is apparently no direct association between cystinosis and memory problems. Neither has the medication cysteamine been associated with memory loss in humans.
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