Clinical and genetic characteristics of 2 cases with infantile GM1 gangliosidosis
10.3760/cma.j.cn101070-20200630-01089
- VernacularTitle:婴儿型GM1神经节苷脂贮积症2例临床及遗传学特点
- Author:
Shujuan CHEN
1
;
Peng ZHAO
;
Bin ZHAO
;
Jianbo SHU
Author Information
1. 天津市儿童医院康复科 300134
- Keywords:
GM1 gangliosidosis;
Clinical characteristics;
Gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(4):304-307
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze clinical and genetic characteristics of 2 cases with infantile GM1 gang-liosidosis.Methods:Clinical data of 2 cases with infantile GM1 gangliosidosis in the Department of Rehabilitation, Tianjin Children′s Hospital from May 2019 to June 2019 were retrospectively analyzed.Results:The major manifestations of 2 cases included infantile onset, psychomotor retardation and retrogression, blundering face, sensitive to sound, gingival hyperplasia, abnormal eruption of teeth, hypotonia or dystonia, bone dysplasia, and skin abnormalities.Case 1 had hepatosplenomegaly, corneal opacity and multiple joint contractures.Case 2 had fundus cherry erythema and epileptic seizure.Biochemical results showed that alkaline phosphatase and aspartate transaminase significantly increased, and alanine transaminase was normal.Cranial nuclear magnetic imaging showed poor myelin sheath in the white matter in both cases, and case 1 also had symmetric signal changes in the thalamus.Whole exon sequencing showed that case 1 had deletion mutation of 3p22.3 (33137821-33138587)×1 in the exon of GLB1 gene, which has not been previously reported. Conclusions:The clinical spectrum of infantile GM1 gangliosidosis is broad.Both cases in this study have skin abnormalities, which are relatively rare.Multiple joint contractures in case 1 have not been previously reported, and considered as a new phenotype.The deletion mutation of 3p22.3 (33137821-33138587)×1 in the exon of GLB1 gene in case 1 is a newly detected mutation, which expands the genetic profile of infantile GM1 gangliosidosis.
