BACKGROUND Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. CASE Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. RESULTS We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet. CONCLUSION Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.

中文翻译：

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ALG3-CDG双胞胎生酮饮食疗法成功治疗顽固性癫痫

背景技术先天性糖基化障碍(CDG)是一组具有多系统临床参与的先天性代谢疾病。ALG3-CDG 是一种非常罕见的亚型，迄今为止仅报告了 24 例。案例 在这里，我们报告了两个兄弟姐妹在额叶、枕叶和腰骶部有畸形特征、生长迟缓、小头畸形、顽固性癫痫和血管瘤。结果 我们通过全外显子组测序研究了两个兄弟姐妹。ALG3 的致病性变异 (NM_005787.6: c.165C > T; p.Gly55=) 之前与先天性糖酵解缺陷 1d 型相关。他们的顽固性癫痫发作由生酮饮食控制。结 血管瘤的存在是一个新发现，可用作 ALG3-CDG 诊断的指征。我们的患者是第一个用生酮饮食控制顽固性癫痫发作的病例。该报告增加了生酮饮食作为治疗 ALG3-CDG 顽固性癫痫的一种选择。