VAC14 related childhood-onset striatonigral degeneration was first defined in 2016 in two unrelated children with sudden onset neurological disease and regression of developmental milestones. Up to now, 11 cases have been reported. VAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate (PI (3, 5)P2) and PI (3, 5)P2 is critical for the survival of neural cells. Pathogenic VAC14 variants result in striatonigral degeneration chacterised by prominent vacuolation of neurons in basal ganglia.

Here, we present a patient with a homozygous pathogenic VAC14 variant, whose symptoms started at an early age and who had both basal ganglia and brain stem involvement. Our case is one of the youngest patients in literature and involvement of the brain stem is defined for the first time in VAC14 related neurological disease.

VAC14相关的儿童期纹状体黑质变性在2016年首次定义于两名不相关的儿童，它们均伴有突然发作的神经系统疾病和发育里程碑的消退。截至目前，已报告11例。VAC14是三分子复合物的一个组成部分，它可以紧密调节磷脂酰肌醇3,5-双磷酸（PI（3，5）P2）的水平，而PI（3，5）P2对于神经细胞的存活至关重要。致病性 VAC14变体导致基底神经节的神经元明显空泡化，从而使纹状体变质退变。

在这里，我们介绍了一个具有纯合病原性VAC14变体的患者，其症状始于早年，同时具有基底神经节和脑干受累。我们的病例是文献中最年轻的患者之一，在VAC14相关的神经系统疾病中首次定义了脑干受累。