[show abstract][hide abstract] ABSTRACT: BACKGROUND: Thrombolysis is strongly recommended for patients with significant neurologic deficits secondary to acute ischemic stroke. Extracranial bleeding is a rare but major complication of thrombolysis. CASE PRESENTATION: A 78-year-old woman presented with acute ischemic stroke caused by occlusion of the basilar artery. Clinical recovery was observed after successful recanalization by intravenous thrombolysis and intraarterial thrombectomy. However, the patient complained of sudden abdominal pain following the intervention and a newly developed abdominal wall mass was found. CT scan and selective angiography confirmed active bleeding from the left epigastric artery into the abdominal muscle layer and the bleeding was successfully managed by selective embolization of the bleeding artery. CONCLUSIONS: We report a rare case of abdominal wall hemorrhage after thrombolysis for acute ischemic stroke. The findings indicate that abdominal wall hemorrhage should be considered as a differential diagnosis in the presence of abdominal discomfort after thrombolysis for acute ischemic stroke.
[show abstract][hide abstract] ABSTRACT: Recent studies have shown an association between Parkinson disease (PD) and mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA), which is deficient in patients with Gaucher disease. In Asian populations, 2 mutational analysis studies have been performed in all exons of GBA; one study in a Japanese population showed the highest odds ratio among all ethnic groups, whereas the other study in ethnic Chinese observed a trend of a higher frequency of GBA mutation in PD patients without statistical significance. To investigate whether there is an association between PD and mutations of GBA in a Korean population, we analyzed mutations of GBA and compared mutation frequencies between Korean PD patients and a control population. We analyzed mutations in GBA by sequencing exons of GBA in 277 Korean PD patients and 291 control subjects. All exons of GBA were sequenced in all PD cases and 100 control subjects. Exon 2 and exons 5-11, where mutations of GBA were found in our PD patients, were analyzed in an additional 191 control subjects. Five different pathogenic heterozygous GBA mutations, including N188S, P201H, R257Q, S271G, and L444P, were identified in 9 PD cases (3.2%), whereas there were no GBA mutations found in control subjects (p<0.01, OR 20.6, 95% CI 1.2-356.4). The mean age-at-onset of heterozygous GBA variants carriers was younger than that of non-carriers (48.6±11.9 versus 57.9±13.5, p<0.05, Mann-Whitney test). Our results suggest that heterozygous mutations of GBA represent a risk factor for PD in Koreans.