Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease.
- Author:
Yu-wei DA
1
;
Yun LI
;
Xin-qing ZHANG
;
Jian-ping JIA
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; Brain; diagnostic imaging; Female; Humans; Leukodystrophy, Globoid Cell; diagnosis; diagnostic imaging; genetics; Magnetic Resonance Imaging; Molecular Sequence Data; Point Mutation; Radiography
- From: Chinese Journal of Medical Genetics 2013;30(5):585-588
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate clinical and imaging features of a patient with adult-onset Krabbe disease and to detect the underlying genetic mutations.
METHODSClinical and cranial MRI features of the patient were analyzed. Pathogenesis, clinical manifestation, cranial MRI features and diagnostic criteria for the disease were discussed.
RESULTSThe patient had presented asymmetric limb weakness and difficulty in walking. Electromyography suggested peripheral nerve demyelination. Cranial MRI showed increased signal intensity in white matter with involvement of the corticospinal tracts. Screening of GALC gene mutation has found the patient to be heterozygous for T1685C (Ile562Thr) and homozygous for A1921G (Thr641Ala), both of which were considered to be polymorphisms. In addition, he was heterozygous for G136T (Asp46Tyr), which had not been described previously.
CONCLUSIONClinical manifestations of adult-onset Krabbe disease may be atypical. Cranial MRI and galactocerebroside activity assay should be carried out for patients featuring chronic progressive corticospinal tract injury. An Asp46Tyr mutation probably underlies the disease in the current case.
