Dynamin-1-related infantile spasms: a case report and review of literature
10.3760/cma.j.issn.0578-1310.2016.11.014
- VernacularTitle:Dynamin-1基因新生突变导致婴儿痉挛症一例并文献复习
- Author:
Xiaolu DENG
1
;
Fei YIN
;
Ciliu ZHANG
;
Yuping MA
;
Fang HE
;
Liwen WU
;
Jing PENG
Author Information
1. 中南大学湘雅医院儿科 湖南省儿童智力障碍研究中心
- Keywords:
Spasms,infantile;
Dynamin Ⅰ;
Epilepsy;
Mutation
- From:
Chinese Journal of Pediatrics
2016;54(11):856-859
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms.Method Clinical,laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1 DNM1 " as key words to search at CNKI,Wanfang,PubMed and OMIM to date (April 2016),the clinical characteristics of 9 reported cases of DNMl-related epileptic encephalopathy in international literature with our case were reviewed.Result The boy is the second child of healthy and nonconsanguineous parents.At 7 months,he started to have seizures with head dropping,and be was brought for the first time to our hospital at the age of 17 months.The patient presented with severe psychomotor retardation,epilepsy,muscular hypotonia,and electroencephalography showed hypsarhythmia.He received 28 days of adrenocorticotropic hormone (ACTH) therapy.After that,his seizures were improved with valproic acid and levetiracetam,and disappeared between 3 years and 5 months to 5 years and 5 months of age on treatment with valproic acid only.Exome-sequencing study (trios) identified novel heterozygous mutation c.443A ＞ G (p.Glu148Arg) in DNM1.Up to now,9 cases of epileptic encephalopathy (infantile spasms or Lennox-Gastaut syndrome) associated with de novo DNM1 gene mutations have been reported.Conclusion The main clinical features of DNM1 mutations include intractable seizures,intellectual disability,developmental delay,hypotonia,and developmental delay before the onset of seizures.
