Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
Brain Dev. 2020 Aug;42(7):539-545. doi: 10.1016/j.braindev.2020.04.008. Epub 2020 May 7.
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.
Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions.
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.
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.
先天性糖基化障碍（CDG）是一组异质性先天性代谢疾病，多系统临床受累。ALG3-CDG 是一种非常罕见的亚型，迄今为止仅报告了 24 例病例。
本研究报道了 2 例具有发育不良、生长迟缓、小头畸形、难治性癫痫和额、枕和腰骶部血管瘤的同胞病例。
通过全外显子组测序对这 2 例同胞进行了研究。发现 ALG3 中先前与先天性糖酵解缺陷 1d 相关的致病性变异（NM_005787.6：c.165C>T；p.Gly55=）。他们的难治性癫痫通过生酮饮食得到控制。
尽管我们患者中所见的生长迟缓和小头畸形等突出表现以前已有广泛报道，但血管瘤的存在是一个新的发现，可作为 ALG3-CDG 诊断的指征。我们的患者是首例难治性癫痫通过生酮饮食得到控制的病例。本报告增加了生酮饮食作为 ALG3-CDG 治疗难治性癫痫的一种选择。
