Azubuike J C, Gullotta F, Kallfelz H C, Gellissen K, Mende S, Exss R
Neuropadiatrie. 1975 Aug;6(3):292-306. doi: 10.1055/s-0028-1091669.
A girl of 10-5/12 years is described, who had diabetes mellitus from the age of 5 years on and who developed bilateral ptosis, pigment degeneration of the retina and bilateral impairment of hearing at the age of nine years. A few weeks before death she suffered from an acute gastrointestinal infection which was successfully treated by a hydroxyquinoline derivative. In the days following a severe encephalopathy and signs of cardiac involvement appeared. A month later the girl died of bulbar paralysis and acute heart failure. Histology showed remnants of a granulomatous inflammation in the heart, the kidneys, the pancreas and the skeletal muscles. Furthermore there was a widespread spongiosis in the white substance of the brain, with large astrocytes, and partly also in the basal ganglia, the brain stem and the cerebellum. Foci of sudanophilic tissue necrosis resembling Wernicke's Encephalopathy were found in the medulla oblongata and the spinal cord. The peripheral nerves appeared partially demyelinated and showed axonal lesions. This case is classified as a Juvenile Type of so-called Canavan's Disease. It shows some resemblence to the "Progressive Chronic Ophthalmoplegia with Spongiform Encephalopathy described by Daroff, Kearn and Sayre. The possible neurotoxical effects of the hydroxyquinoline therapy are discussed.
本文描述了一名10又5/12岁的女孩，她从5岁起就患有糖尿病，9岁时出现双侧上睑下垂、视网膜色素变性和双侧听力障碍。在死亡前几周，她患了急性胃肠道感染，用一种羟基喹啉衍生物成功治疗。在随后的几天里，出现了严重的脑病和心脏受累的迹象。一个月后，女孩死于延髓麻痹和急性心力衰竭。组织学检查显示心脏、肾脏、胰腺和骨骼肌有肉芽肿性炎症残留。此外，脑白质广泛出现海绵状变性，有大型星形胶质细胞，部分基底神经节、脑干和小脑也有。在延髓和脊髓中发现了类似韦尼克脑病的嗜苏丹性组织坏死灶。周围神经部分脱髓鞘并显示轴索病变。该病例被归类为所谓的青少年型卡纳万病。它与达罗夫、卡恩和塞尔描述的“进行性慢性眼肌麻痹伴海绵状脑病”有一些相似之处。文中讨论了羟基喹啉治疗可能的神经毒性作用。
