Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi-allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD-EU register database and an in-house database were searched for patients with NHLRC2 variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi-allelic variants in NHLRC2. Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients.

中文翻译：

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将 FINCA（纤维化、神经变性和脑血管瘤病）综合征的表型谱扩展到婴儿期以外

纤维化、神经变性和脑血管瘤病 (FINCA, MIM#618278) 是一种罕见的临床病症，由含有蛋白质 2 ( NHLRC2 , MIM*618277)的 NHL 重复序列中的双等位基因变异引起。肺部疾病可能是主要症状，迄今为止报告的少数患者均在婴儿早期死亡。对患有儿童间质性肺病 (chILD) 和其他神经学特征的患者进行外显子组测序。在 chILD-EU 注册数据库和内部数据库中搜索NHLRC2变异和临床特征与 FINCA 综合征重叠的患者。来自三个家庭的六名患者在NHLRC2中被鉴定为具有双等位基因变异. 其中两个孩子在两岁之前就去世了，而另外四个孩子则活到了童年。几乎所有患者在婴儿期都出现间质性肺病，并在疾病过程中稳定下来，神经发育迟缓 (NDD) 演变为关键的临床发现。我们将 FINCA 综合征的表型扩展到严重程度不同的多系统疾病。在患有 NDD 且有明显间质性肺病史的婴儿期以后的患者中也应考虑 FINCA 综合征。管理登记在册的罕见病患者有助于识别新的诊断实体并推进对这些患者的护理。