Department of neurology, Lariboisière hospital, Assistance publique-Hôpitaux de Paris (AP-HP), 75010 Paris, France.
Department of pediatrics (PL), Béclère hospital, AP-HP, 92140 Clamart, France.
Rev Neurol (Paris). 2020 Mar;176(3):170-179. doi: 10.1016/j.neurol.2019.06.006. Epub 2019 Sep 11.
Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive cerebral angiomatous-like microangiopathy characterized by diffuse and asymmetric white-matter lesions associated with multiple calcifications and cysts. The disease is caused by SNORD118 mutations. The entire clinical spectrum of LCC is not yet fully determined.
To define the clinical spectrum of LCC, we analyzed data from recently diagnosed cases and from the litterature. Both clinical and imaging features from our five LCC cases harboring compound heterozygous SNORD118 mutations were presented and all cases reported in the litterature reviewed.
Ninety-two LCC cases including our five patients were identified. Consanguinity was rare (4%), and 97% of cases were symptomatic. Mean age of first clinical manifestations was 16.1±16.1 years (range 1 month-71 years) and was earlier in men (10.3±14.3 years) than in women (20.2±22.8 years) (P=0.02). The main inaugural symptoms were seizures (36%; mean age at onset: 5.2±9.5 years) and progressive neurological symptoms including ataxia, dystonia and spasticity (26%; 27.8±23.6 years). Intracranial hypertension was less frequently observed (14%), mostly in adults (mean age 31.5±13.2 years). Ischemic or hemorrhagic strokes were inaugural symptoms in two adults (2%). During follow-up, most patients developed progressive extrapyramidal, cerebellar and pyramidal signs (83%), cognitive decline (56%), seizures (37%), intracranial hypertension (30%) or stroke (2%).
In LCC, the clinical spectrum is largely heterogeneous and the course of the disease appears highly variable in contrast to other hereditary cerebral small vessel diseases.
脑钙化和囊肿性脑白质病（LCC）是一种罕见的常染色体隐性脑血管样微血管病，其特征为弥漫性和不对称性白质病变，伴有多发钙化和囊肿。该病由 SNORD118 突变引起。LCC 的整个临床谱尚未完全确定。
为了确定 LCC 的临床谱，我们分析了最近诊断的病例和文献中的数据。我们报告了 5 例携带复合杂合 SNORD118 突变的 LCC 患者的临床和影像学特征，并对文献中报道的所有病例进行了回顾。
共确定了 92 例 LCC 病例，包括我们的 5 例患者。近亲结婚罕见（4%），97%的病例有症状。首次临床表现的平均年龄为 16.1±16.1 岁（范围 1 个月至 71 岁），男性（10.3±14.3 岁）早于女性（20.2±22.8 岁）（P=0.02）。主要首发症状为癫痫（36%；发病年龄平均：5.2±9.5 岁）和进行性神经症状，包括共济失调、肌张力障碍和痉挛（26%；27.8±23.6 岁）。颅内压增高较少见（14%），多发生于成人（平均年龄 31.5±13.2 岁）。缺血性或出血性中风是 2 例成人的首发症状（2%）。在随访过程中，大多数患者出现进行性锥体外系、小脑和锥体束征（83%）、认知能力下降（56%）、癫痫（37%）、颅内压增高（30%）或中风（2%）。
在 LCC 中，临床表现差异很大，与其他遗传性脑小血管病相比，疾病的过程变化多样。
