Leukoencephalopathy with brain calcifications and cysts (LCC) is a rare cerebral microangiopathy, the cause of which was recently determined to be recessively inherited mutations in the SNORD118 gene. We report the case of a 32-year-old Irish Traveller woman who presented to the emergency department in convulsive status epilepticus with abnormal neuroimaging features characteristic of LCC. Her medical history consisted of epilepsy, intellectual impairment, previous craniotomies for excision of cerebral cysts and resection of a tibial osteogenic sarcoma. Whole exome sequencing identified a previously described homozygous variant, NR_033294.1 n.*5C>G, in the 3′ UTR of the SNORD118 gene. Her sister was subsequently found to be homozygous for the same variant but with a significantly milder clinical phenotype consisting of migraine without aura and mild, non-specific, cerebral white matter changes on neuroimaging. Knowledge of the existence of LCC within this population means that targeted genetic testing for this specific mutation should be considered in Irish Traveller patients presenting with the characteristic clinical and radiological features. Given the striking phenotypic variability seen within this family, LCC should also be considered in Irish Traveller patients even in the absence of the complete radiological triad.

中文翻译：

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具有脑钙化和囊肿的白质脑病的表型变异：来自纯合SNORD118突变的爱尔兰旅行者家庭的兄弟姐妹的病例报告。

具有脑钙化和囊肿的白细胞性脑病（LCC）是一种罕见的脑微血管病，最近已确定其原因是SNORD118基因的隐性遗传突变。我们报告了一名32岁的爱尔兰旅行者妇女的案例，该妇女以惊厥性癫痫持续状态出现在急诊室，具有LCC异常的神经影像学特征。她的病史包括癫痫，智力障碍，先前的脑囊肿切除术和胫骨成骨肉瘤切除术。整个外显子组测序在SNORD118的3'UTR中鉴定了先前描述的纯合变体NR_033294.1 n。* 5C> G基因。随后发现她的姐姐对于相同的变体是纯合的，但是具有明显较轻的临床表型，包括没有先兆的偏头痛和神经影像学上的轻度，非特异性，脑白质变化。了解该人群中LCC的存在意味着，对于具有特定临床和放射学特征的爱尔兰旅行者患者，应考虑针对这种特定突变进行针对性的基因检测。考虑到该家族中明显的表型变异性，即使没有完整的放射学三联征，也应在爱尔兰旅行者患者中考虑LCC。