Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybutyric acid and the identification of biallelic pathogenic variants in aldehyde dehydrogenase 5 family, member A 1 (ALDH5A1) gene. Here, we describe a 15-month-old girl with SSADH deficiency presenting with developmental delay, language deficits, and acute-onset right hemiparesis, following recovery from a diarrheal illness. Brain magnetic resonance imaging revealed hyperintense signal changes involving the left globus pallidus in T2-weighted images with restriction of diffusion in the diffusion-weighted images. Increased excretion of 4-hydroxybutyric acid, threo-4,5-dihydroxyhexanoic acid lactone and erythro-4,5-dihydroxyhexanoic acid lactone was detected by urine organic acid analysis and a diagnosis of SSADH deficiency was confirmed by the identification of homozygous pathogenic variant in ALDH5A1. Stroke mimic is a novel presentation in our patient with SSADH deficiency. She was initiated on treatment with vigabatrin and has shown developmental gains with the recovery of right hemiparesis. Follow-up neuroimaging shows near complete resolution of signal changes in the left globus pallidus, while there was subtle hyperintensity in the right globus pallidus. The phenotypic spectrum of SSADH deficiency is widely expanding, and this disorder should be considered in the differential diagnosis of children with metabolic stroke.

中文翻译：

---

代谢性中风：琥珀酸半醛脱氢酶缺乏症儿童的新型表现。

琥珀酸半醛脱氢酶（SSADH）缺乏症是γ-氨基丁酸代谢的常染色体隐性遗传疾病。患有SSADH缺乏症的儿童通常表现为发育延迟，行为症状，语言功能障碍，癫痫发作，肌张力低下，锥体束外症状和共济失调。SSADH缺乏症的诊断是通过异常的尿液有机酸模式建立的，包括增加的4-羟基丁酸排泄和鉴定醛脱氢酶5家族A 1（ALDH5A1）基因中的双等位基因致病变体。在这里，我们描述了一个15个月大的SSADH缺乏症女孩，从腹泻病中恢复后，出现发育迟缓，语言缺陷和急性发作性右半身轻瘫。脑磁共振成像显示在T2加权图像中涉及左苍白球的高强度信号变化，而在弥散加权图像中的扩散受到限制。通过尿液有机酸分析检测到4-羟基丁酸，苏式-4,5-二羟基己酸内酯和赤型4,5-二羟基己酸内酯排泄增加，并通过在猪中纯合子致病变异的鉴定证实了SSADH缺乏的诊断。 ALDH5A1。在我们的SSADH缺乏症患者中，中风模拟是一种新颖的表现。她开始接受vigabatrin的治疗，并随着右偏瘫的恢复显示出发展上的进步。后续神经影像检查显示左苍白球的信号变化接近完全解决，而右苍白球有微弱的高信号。