Hartley Jessica, Westmacott Robyn, Decker Jochen, Shroff Manohar, Yoon Grace
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
J Child Neurol. 2010 May;25(5):623-7. doi: 10.1177/0883073810361382. Epub 2010 Mar 1.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, and premature death. We present an 8-year-old boy with attention and behavioral difficulties, as well as a family history of the condition. Magnetic resonance imaging revealed subcortical foci of increased T2 hyperintensity, and sequencing of the notch3 gene revealed 1 previously reported mutation and 1 novel sequence variant. Neurocognitive assessment revealed deficits in several aspects of executive functioning and in verbal learning. To our knowledge, this is the youngest reported patient with this condition, and it prompts reconsideration of CADASIL as an adult-onset disease.
大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病（CADASIL）是一种进行性神经退行性疾病，与Notch3基因突变有关。症状包括伴有先兆的偏头痛、情绪障碍、进行性认知衰退、皮质下缺血性中风、痴呆和过早死亡。我们报告一名8岁男孩，有注意力和行为方面的困难，且有该疾病的家族史。磁共振成像显示皮质下T2高信号灶，Notch3基因测序发现1个先前报道的突变和1个新的序列变异。神经认知评估显示执行功能的几个方面和言语学习存在缺陷。据我们所知，这是报道的患有该疾病最年轻的患者，这促使人们重新考虑CADASIL是一种成人起病的疾病。
