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
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1102-1104, 2020.
Article
Dans Chinois
| WPRIM
| ID: wpr-864170
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Chinois
Texte intégral:
Chinese Journal of Applied Clinical Pediatrics
Année:
2020
Type:
Article
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