Ehrich J H, Stoeppler L, Offner G, Brodehl J
Neuropadiatrie. 1979 May;10(2):128-37. doi: 10.1055/s-0028-1085319.
Cranial computerized tomography (CCT) of 3 children with nephropathic cystinosis and chronic renal failure (CRF) revealed a hydrocephalus internus and externus. In two boys the findings consisted of bilateral dilatation of the ventricular system and of the subarachnoid space; in one boy the alterations were mainly unilateral. The children had repeated convolsions which could not be explained by deterioration of renal function. Their neurological condition was otherwise normal. In six non-cystinotic patients with chronic renal failure, CCT showed normal anatomical structures. The possibility is discussed that the hitherto unknown pathogenetic mechanism of cystinosis leads to diffuse cerebral atrophy, resulting in internal and external hydrocephalus.
对3例患有肾病型胱氨酸病和慢性肾衰竭（CRF）的儿童进行的头颅计算机断层扫描（CCT）显示存在脑内和脑外脑积水。在2名男孩中，检查结果包括脑室系统和蛛网膜下腔的双侧扩张；在1名男孩中，改变主要为单侧性。这些儿童反复出现惊厥，无法用肾功能恶化来解释。他们的神经状况在其他方面正常。在6例非胱氨酸病的慢性肾衰竭患者中，CCT显示解剖结构正常。文中讨论了一种可能性，即迄今未知的胱氨酸病发病机制导致弥漫性脑萎缩，从而引起脑内和脑外脑积水。
