Background

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting various NBIA subtypes together are few. This study was aimed at describing clinical features, neuroimaging findings, and genetic mutations of different NBIA group disorders.

Methods

Clinical, radiological, and genetic data of patients diagnosed with NBIA in a tertiary care centre in Southern India from 2014 to 2020 was retrospectively collected and analysed.

Results

In our cohort of 27 cases, PLA2G6-associated neurodegeneration (PLAN) was most common (n = 13) followed by Pantothenate kinase-associated neurodegeneration (PKAN) (n = 9). We had 2 cases each of Mitochondrial membrane-associated neurodegeneration (MPAN) and Beta-propeller protein- associated neurodegeneration (BPAN) and 1 case of Kufor-Rakeb Syndrome (KRS). Walking difficulty was the presenting complaint in all PKAN cases, whereas the presentation in PLAN was that of development regression with onset at a mean age of 2 years. Overall, 50% patients of them presented with development regression and one-third had epilepsy. Presence of pyramidal signs was most common examination feature (89%) followed by one or more eye findings (81%) and movement disorders (50%). Neuroimaging was abnormal in 24/27 cases and cerebellar atrophy was the commonest finding (52%) followed by globus pallidus hypointensities (44%).

Conclusions

One should have a high index of clinical suspicion for the diagnosis of NBIA in children presenting with neuroregression and vision abnormalities in presence of pyramidal signs or movement disorders. Neuroimaging and ophthalmological evaluation provide important clues to diagnosis in NBIA syndromes.

中文翻译：

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伴有脑铁积累的神经变性：印度南部儿科患者临床、放射学和遗传特征的表征

背景

伴有脑铁积累的神经退行性疾病 (NBIA) 是一组罕见的遗传性神经退行性疾病。已知有十种类型的 NBIA。报告各种 NBIA 亚型的研究很少。本研究旨在描述不同 NBIA 组疾病的临床特征、神经影像学发现和基因突变。

方法

回顾性收集和分析了 2014 年至 2020 年在印度南部一家三级医疗中心诊断为 NBIA 的患者的临床、放射学和遗传数据。

结果

在我们的 27 例病例队列中，PLA2G6 相关神经变性 (PLAN) 最常见 (n = 13)，其次是泛酸激酶相关神经变性 (PKAN) (n = 9)。我们有 2 例线粒体膜相关神经变性 (MPAN) 和 β-螺旋桨蛋白相关神经变性 (BPAN) 和 1 例 Kufor-Rakeb 综合征 (KRS)。行走困难是所有 PKAN 病例的主诉，而 PLAN 中的主诉是平均 2 岁发病的发育退化。总体而言，其中 50% 的患者出现发育退化，三分之一患有癫痫。锥体征的存在是最常见的检查特征 (89%)，其次是一项或多项眼部检查结果 (81%) 和运动障碍 (50%)。

结论

对于在出现锥体体征或运动障碍的情况下出现神经退化和视力异常的儿童，应该对 NBIA 的诊断具有很高的临床怀疑指数。神经影像学和眼科评估为 NBIA 综合征的诊断提供了重要线索。