ABSTRACT
OBJECTIVE@#To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.@*METHODS@#A comprehensive analysis including clinical investigation and genetic testing was carried out.@*RESULTS@#The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.@*CONCLUSION@#Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
Subject(s)
Humans , DNA Mutational Analysis , Galactosylceramidase , Genetics , Genetic Testing , Leukodystrophy, Globoid Cell , Genetics , Mutation , Peripheral Nervous System DiseasesABSTRACT
Objective To determine the prevalence of microembolic signals (MES) by using transcranial Doppler (TCD) and to assess their association with neuropsychiatric systemic lupus erythematosus (NPSLE) and clinical presentations in patients with systemic lupus erythematosus (SLE).Methods Forty-four patients with SLE underwent TCD for 30 min were included for MES detection and their clinical information were recorded.In addition to the frequency of patients with MES,patients with MES were followed-up for sixmonth.Mann-Whitney U test and Fisher exact test were applied to investigate the clinical characteristics.Results There were 4 patients with history of NPSLE and the occurrence times were from 8 to 120 month before our study.There were 4 patients had the abnormal neuropsychiatric symptom during our study period.MES were detected in 5/44 patients (11％) with mean 17.6 per 30 min.MES were more prone to be detected in patients with higher systemic lupus erythematosus disease activity index (SLEDAI) score [16(12.5,19) vs 8(5,10),U=14.5,P=0.001],shorter course of disease [1(0.1,48.5) vs 26(13,55),U=38,P=0.028] and neuropsychiatric symptoms [3 vs 1,P=0.003].Conclusion MES may be detected in SLE patients.MES is associated with higher disease activity,shorter course of disease and NPSLE.TCD microemboli detection may be a noninvasive method to evaluate NPSLE patients.