Department of Neurology (Paediatric Neurology) and Amalia Children's Hospital, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Pediatrics (Child Neurology), VU University Medical Centre, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Eur J Paediatr Neurol. 2018 Sep;22(5):866-869. doi: 10.1016/j.ejpn.2018.06.005. Epub 2018 Jun 25.
Leukoencephalopathy with brain calcifications and cysts (LCC) is a genetic white matter disorder, which involves the brain small blood vessels. In the absence of extra-neurological symptoms, LCC has a pathognomonic radiological phenotype. Recently, biallelic mutations in the SNORD118 gene, which is a non-protein coding gene, were discovered to cause LCC. We present here two siblings with developmental delay and a typical MRI pattern, who were diagnosed with LCC. The mutations in the SNORD118 gene were initially missed with whole exome sequencing (WES), but recognition of the MRI patterns of both children raised the suspicion of LCC and led to a genetically proven diagnosis after re-evaluation of the WES data.
脑钙化和囊肿性脑白质病（LCC）是一种遗传性脑白质疾病，涉及脑小血管。在没有神经外症状的情况下，LCC 具有特征性的放射影像学表型。最近，发现双等位基因突变的 SNORD118 基因（非蛋白编码基因）可导致 LCC。我们在此介绍两个患有发育迟缓且具有典型 MRI 模式的兄弟姐妹，他们被诊断为 LCC。全外显子组测序（WES）最初未能发现 SNORD118 基因突变，但两个孩子的 MRI 模式的识别引起了对 LCC 的怀疑，并在重新评估 WES 数据后进行了基因确诊。
