Peña J A, Cardozo J J, Montiel C M, Molina O M, Boustany R
Department of Neuropediatrics, University Hospital, Maracaibo, Venezuela.
Pediatr Neurol. 2001 Jul;25(1):78-80. doi: 10.1016/s0887-8994(01)00284-3.
Widespread cerebral atrophy and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type neuronal ceroid-lipofuscinosis. In the presence of clinical findings indicative of neuronal ceroid-lipofuscinosis, neuroimaging procedures are highly recommended to differentiate the variants from classic late infantile neuronal ceroid-lipofuscinosis. The clinical features and follow-up magnetic resonance imaging studies in a patient with the Costa Rican variant of late infantile neuronal ceroid-lipofuscinosis is presented. These procedures were of the utmost importance to observe the progression of the neurologic ailment and the extent of the cerebral and cerebellar abnormalities.
广泛的脑萎缩和基底节受累是晚发性婴儿型神经元蜡样脂褐质沉积症变异型极具提示性的影像学特征。在存在提示神经元蜡样脂褐质沉积症的临床发现时,强烈建议进行神经影像学检查,以将这些变异型与经典的晚发性婴儿型神经元蜡样脂褐质沉积症区分开来。本文介绍了一名患有哥斯达黎加变异型晚发性婴儿型神经元蜡样脂褐质沉积症患者的临床特征及后续磁共振成像研究。这些检查对于观察神经系统疾病的进展以及大脑和小脑异常的程度至关重要。