Infantile spasm induced by ALG13 gene mutation: a case report and literatures review
GUO Shu-fang HE Wen DUN Shuo ZOU Li-ping
(1.Children's Medical Center, Chinese PLA General Hospital, Beijing 100853, China; 2.Department of Pediatrics, Nankai Medical College, Nankai University, Tianjin 300071, China; 3.Institute of Epilepsy, Beijing Institute for Brain Disorders, Beijing 100069, China)
Abstract: 【Abstract】 Objective To investigate the features of gene mutation and clinical characteristics of infantile spasms (IS) caused by ALG13 gene mutation. Methods The case data, auxiliary examinations and genetic test results of one case of children with IS were retrospectively analyzed, and the relevant literatures were reviewed. Results The female patient was admitted to hospital at 5 years 8 months, because of intermittent seizures with delayed development for 5 years 4 months. The nutrition of the child was poor, the consciousness was clear, and the spiritual development delayed. The case was onset at the age of 2 months, and as a refractory epilepsy due to generalized seizures and accompanied by comprehensive development behind and low muscle tension at 4 years old. Blood metabolic screening showed Arginine decreased, while urinary metabolism showed the increase of concentration of Phenylacetic acid, 3-hydroxyphenylacetic acid and glutaric acid. Electroencephalogram (EEG) showed a large number of diffuse sharp (spine) wave, sharp (spine) slow wave near-continuous release, pillow area obviously. Cranial MRI showed sulcus slightly prominent, extra-cerebral space slightly wider, bilateral temporal angle slightly expanded. Chromosome examination was no abnormalities. And so was mitochondrial respiratory chain enzyme complex Ⅰ , Ⅳ and ATPase enzyme activity. Gene analysis revealed the exon 3 of ALG13 gene had a heterozygous mutation site c.280A>G (p.K94E), as a spontaneous mutation. Conclusions The ALG13 gene mutation should be considered when the early onset epilepsy progresses to refractory case and complicated with developmental lag and abnormal muscle tension for IS child. At the same time, the congenital glycosylation proteins should be detected for further diagnosis.
2018, Vol. 6 
