Levine S, Paparo G
Acta Neuropathol. 1982;57(2-3):217-20. doi: 10.1007/BF00685392.
Cystinosis usually spares the brain or causes only deposition of cystine crystals without destructive lesions in choroid plexus or, rarely, in brain parenchyma. A case of cystinosis is presented with unusually long survival and with bilateral necrosis, numerous concretions, and extensive demyelination of internal capsule and brachium pontis. No cystine crystals could be demonstrated in these lesions although they were present in the choroid plexus. The symmetry and unique distribution of the lesions as well as their histopathology suggested a progressive process caused by the metabolic dysfunction of cystinosis. The validity of this hypothesis will be determined by future experience as renal transplants enable more patients to survive into adult life.
胱氨酸病通常不累及大脑，或仅导致胱氨酸晶体沉积，而脉络丛无破坏性病变，或极少情况下脑实质无破坏性病变。本文报告一例胱氨酸病患者，其生存期异常长，双侧出现坏死、大量结石，内囊和脑桥臂广泛脱髓鞘。尽管脉络丛中有胱氨酸晶体，但在这些病变中未发现胱氨酸晶体。病变的对称性、独特分布及其组织病理学提示这是一个由胱氨酸病代谢功能障碍引起的进行性过程。随着肾移植使更多患者存活至成年期，这一假设的正确性将由未来的经验来确定。
