Abstract
Cystinosis is a disorder of lysosomal transport that is characterized by the lysosomal storage of the amino acid cystine. The disorder causes progressive renal failure and may damage other organs such as the thyroid, retina, and pancreas. Central nervous system function is generally thought to be normal in this disorder. We measured central nervous system cystine in autopsy specimens obtained from a 25 year old woman with nephropathic cystinosis who had a history of cerebral atrophy and short term memory loss. The dura, anterior pituitary, and choroid plexus had marked cystine storage with levels that were 450, 810, and 4,600 times those of controls, respectively. These levels approached 1 umol/mg protein and were comparable to hepatic and conjunctival cystine levels. The frontal lobes, corpus callosum, and cerebellum had the least storage with cystine levels that were 30-40 fold elevated over controls. All areas of the brain that were sampled had evidence of involvement including the midbrain, basal ganglia, medulla, pons, and spinal cord. While this patient's central nervous system problems cannot be attributed to cystinosis alone, the biochemical findings raise the question of eventual central nervous system dysfunction in cystinosis.
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Jonas, A., Speller, R., Conley, S. et al. CENTRAL NERVOUS SYSTEM CYSTINE STORAGE IN CYSTINOSIS. Pediatr Res 21 (Suppl 4), 291 (1987). https://doi.org/10.1203/00006450-198704010-00741
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DOI: https://doi.org/10.1203/00006450-198704010-00741