Breitbach-Faller N, Schrader K, Rating D, Wunsch R
Abteilung Pädiatrische Neurologie, Universitäts-Kinderklinik Heidelberg, Heidelberg, Germany.
Neuropediatrics. 2003 Apr;34(2):96-9. doi: 10.1055/s-2003-39601.
Aspartoacylase deficiency is a neurodegenerative disease which typically starts in the first months of life with muscular hypotonia and developmental standstill. One of the first diagnostic procedures in this situation is an ultrasound of the brain. There is little information available about sonographic changes in Canavan disease. We present for the first time an ultrasound follow-up in a proven case of aspartoacylase deficiency from 3 weeks to 22 months. High echogenicity of the white matter was present in the neonatal period. Additional sonographic phenomena resulting in a characteristic pattern were shown in further investigations. The distinctive sonomorphology is compared to a few other cases in the literature. The correlation to the neuropathological course of the white matter changes is discussed. Recognition of the sonographic features in addition to the clinical presentation may contribute to an effective biochemical work-up.
天冬氨酸酰基转移酶缺乏症是一种神经退行性疾病，通常在生命的最初几个月开始，伴有肌张力减退和发育停滞。这种情况下的首批诊断程序之一是脑部超声检查。关于卡纳万病的超声变化，目前可用信息很少。我们首次展示了一个经证实的天冬氨酸酰基转移酶缺乏症病例从3周龄到22个月龄的超声随访情况。新生儿期出现白质高回声。在进一步检查中发现了导致特征性模式的其他超声现象。将这种独特的超声形态与文献中的其他一些病例进行了比较。讨论了与白质变化的神经病理学过程的相关性。除临床表现外，识别超声特征可能有助于进行有效的生化检查。
