A patient with early-onset globoid cell leukodystrophy
10.3969/j.issn.1002-0152.2023.11.005
- VernacularTitle:早发型球形细胞脑白质营养不良1例
- Author:
Furong LIU
1
;
Xing WANG
;
Yanting LI
;
Zihan MA
;
Panpan MA
;
Ling HUI
;
Shengju HAO
;
Chuan ZHANG
Author Information
1. 甘肃省妇幼保健院医学遗传中心(兰州 730050)
- Keywords:
Globoid cell leukodystrophy;
Krabbe disease;
Galactocerebrosidase;
Imageology;
GALC gene;
Auto-somal recessive inheritance;
Compound heterozygous mutation
- From:
Chinese Journal of Nervous and Mental Diseases
2023;49(11):665-668
- CountryChina
- Language:Chinese
-
Abstract:
We retrospectively analyzed a child with early-onset globoid cell leukodystrophy(Krabbe's disease)caused by complex heterozygous variations in the GALC gene.The girl was admitted to the hospital at the age of 4 month with main complaints of"No obvious cause of milk refusal,poor mental state,drowsiness,convulsions,fever."Brain MRI showed abnormal symmetric signals changes in bilateral cerebellar hemispheres,bilateral internal capsule hind limbs and bilateral ventricles,thin corpus callosum,myelination process lags behind the level of children of the same age.High-throughput sequencing analysis identified compound heterozygous mutations in GALC gene(NM 000153.4):c.[908+1G>A];[194G>A and the two heterozygous mutations were correspondingly inherited from his father and mother,respectively.The application of high-throughput sequencing technology can diagnose Krabbe disease efficiently and accurately,which assists in clinical identification and diagnosis.
