Ross D L, Strife C F, Towbin R, Bove K E
Neurology. 1982 Dec;32(12):1330-4. doi: 10.1212/wnl.32.12.1330.
A child with nephropathic cystinosis developed seizures and coma. CT showed prominent sulci and slight ventricular enlargement. Nuclear cisternogram was normal. Despite successful renal transplantation and treatment of hypothyroidism, neurologic recovery was poor. CT and nuclear cisternogram 5 months later showed moderate panventricular and subarachnoid space enlargement and abnormal ventricular isotope retention. Ventriculoperitoneal shunt placement was followed by improved intellectual function, resolution of pyramidal tract signs, and control of seizures. Anisotropic crystals consistent with cystine were demonstrated in biopsy samples of arachnoid and cerebral cortex. Nonabsorptive hydrocephalus may have resulted from deposition of cystine in the meninges.
一名患有肾病型胱氨酸病的儿童出现癫痫发作和昏迷。CT显示脑沟增宽，脑室轻度扩大。脑池造影正常。尽管成功进行了肾移植并治疗了甲状腺功能减退，但神经功能恢复不佳。5个月后，CT和脑池造影显示脑室和蛛网膜下腔中度扩大，脑室同位素滞留异常。脑室腹腔分流术后，智力功能改善，锥体束征消失，癫痫得到控制。在蛛网膜和大脑皮层活检样本中发现了与胱氨酸一致的各向异性晶体。非吸收性脑积水可能是由于胱氨酸在脑膜中沉积所致。
