BACKGROUND A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood. CASE PRESENTATION We report on a child with this monoallelic UBTF variant who presented with progressive disease including regression, episodes of subacute deterioration during febrile illnesses and a remarkable EEG pattern with a transient pattern of semi-periodic slow waves. CONCLUSIONS This case further supports the phenotype-genotype correlation of neurodegeneration associated with UBTF c.628G>A. Moreover, it brings new insights into the clinical features and EEG that could possibly serve as diagnostic markers of this otherwise nonspecific phenotype.

中文翻译：

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与特定的UBTF变体相关的儿童神经退行性变：新病例报告和文献复习。

背景技术最近已经发现了一种新的影响核糖体代谢的单基因神经退行性疾病，其与功能变体的单等位基因UBTF推定增益有关（NM_001076683.1：c.628G> A，hg19）。在这些先证者中，表型与儿童早期至中期的进行性运动，认知和行为回归有关。病例介绍我们报道了一个患有这种单等位基因UBTF变体的儿童，该儿童表现出进行性疾病，包括消退，高热疾病期间亚急性恶化的发作以及具有半周期慢波瞬变模式的明显的EEG模式。结论该病例进一步支持了与UBTF c.628G> A相关的神经变性的表型-基因型相关性。此外，