Diagnostics features and literature review of congenital disorder of glycosylation type Ik
Wang Yaping1，2, Li Rongpei2, Ge Ang2, Man Yigang2，3
1Clinical Medicine, Jining Medical University，Jining 272067，China；2Department of Pediatrics，the First People′s Hospital of Jining，Jining 272011，China；3Department of Pediatrics, Qingdao Women and Children′s Hospital, Qingdao 266001, China
Abstract：ObjectiveTo explore the clinical diagnostic features of congenital disorder of glycosylation type Ik (CDG-Ik). MethodsThe clinic data of 1 case of CDG-Ik who was admitted to the department of pediatrics of the First People′s Hospital of Jining on June 7, 2018 was analyzed retrospectively. The clinical data and genetic test results were analyzed and relevant literatures were reviewed. ResultsThe male infant was 1 year old, with intermittent twitch, intraocular inclination, poor visual and auditory response, low ear position, no grasp consciousness in both hands, head instability, backward motor development, decreased muscle tone and decreased knee tendon reflex. Examination revealed abnormal liver function, myocardial damage, low developmental quotient. The head MRI revealed wide cerebral fluid cavity and cerebellar atrophy. The ALG1 gene had a homozygous mutation, c.1312 C＞T, resulting in amino acid changes p.R438W, which was a missense mutation. The children was diagnosed as CDG-Ik. Through family verification and analysis, both the parents of the infant showed heterozygous variation at this site, which was suspected to be pathogenic variation. ConclusionsCDG-Ik is an autosomal recessive genetic disease, and the possibility of this disease should be considered for multiple organs damage due to unknown reasons, especially for the children with backward development of intelligence and motor, strabismus and cerebellar atrophy. ALG1 gene detection can facilitate the diagnosis.
王亚萍 李荣培 葛昂 满宜刚. 先天性糖基化异常Ik型的诊断学特征并文献复习[J]. 中华诊断学电子杂志, 2019, 7(4): 249-253.
Wang Yaping, Li Rongpei, Ge Ang, Man Yigang. Diagnostics features and literature review of congenital disorder of glycosylation type Ik. zhzdx, 2019, 7(4): 249-253.
