Gascon G G, Ozand P T, Mahdi A, Jamil A, Haider A, Brismar J, al-Nasser M
King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Neurology. 1990 Dec;40(12):1876-82. doi: 10.1212/wnl.40.12.1876.
We studied 14 Arab infants with infantile spongy degeneration, 13 of whom were products of consanguineous marriages. They presented in infancy with macrocephaly, poor visual behavior or blindness, and axial hypotonia with appendicular spasticity. Brain CT and MRI showed diffuse symmetric leukoencephalopathy, even before neurologic symptoms. There were relatively normal EEGs. The visual evoked responses (P100) were either absent or delayed early in the course. The brainstem auditory evoked responses showed milder abnormalities, with loss of later components before the earlier ones. Deficient aspartoacylase activity in cultured fibroblasts or brain biopsy confirmed the diagnosis in all patients.
我们研究了14例患有婴儿海绵状变性的阿拉伯婴儿，其中13例为近亲结婚的后代。他们在婴儿期出现巨头畸形、视觉行为不佳或失明，以及轴性肌张力减退伴四肢痉挛。甚至在出现神经症状之前，脑部CT和MRI就显示出弥漫性对称性白质脑病。脑电图相对正常。视觉诱发电位（P100）在病程早期要么缺失，要么延迟。脑干听觉诱发电位显示出较轻的异常，后期成分比早期成分先消失。培养的成纤维细胞或脑活检中天门冬氨酸酰基转移酶活性缺乏在所有患者中均证实了诊断。
