Clinical features of 4 patients with ALG13 gene related congenital disorders of glycosylation type Ⅰ / 中华实用儿科临床杂志

ABSTRACT

Objective:To summarize the genotypes and phenotypes of children with ALG13 gene related congenital disorders of glycosylation type Ⅰ. Methods:Four epilepsy patients with ALG13 variants visiting the Department of Pediatrics, Peking University First Hospital from January 2016 to July 2019 were included.Their clinical data and gene results were analyzed. Results:There were 1 boy and 3 girls.Three patients had p. N107S variant, and 1 case had p. W112X variant.Two patients inherited the variants from their asymptomatic mother and 2 patients had de novo variants.The seizure began at 3 months to 2 years old.Focal seizure was observed in 1 patient, and epileptic spasms in 2 patients.Focal seizure, tonic seizure and epileptic spasms were observed in 1 patient simultaneously.Three patients were diagnosed with infantile spasms.All patients with ALG13 variants had developmental delay, including autistic-like features in 3 cases, hypotonia in 2 cases, and visual disorders in 1 case.The electroencephalography showed hypsarrhythmia in 3 children, and focal spikes and waves in 1 child, and spasms in 2 children.The brain magnetic resonance imaging showed cerebral atrophy in 1 patient, while the other 3 cases were normal.The last follow-up age was 2 years and 2 months to 4 years and 4 months.Four patients still had frequent seizures after treatment with antiepileptic drugs. Conclusions:ALG13 variants were mainly de novo, and p. N107S is a hot variant.ALG13 gene variations mainly occur to infants, characterized by developmental delay and spasms.Infantile spasm is the most common phenotype.Some patients have autistic-like features, hypotonia, visual disorders and cerebral atrophy.