Clinical Characteristics of Pediatric Cerebral Aneurysms / 대한뇌혈관외과학회지

BACKGROUND: Hypercholesterolemia is a major risk factor for ischemic stroke. It was reported that a low triglyceride (TG), not a low cholesterol concentration, was independently associated with the poor outcome of ischemic stroke. There are no reports on relationship between the serum TG level and the clinical outcome of acute stage of ischemic stroke. Moreover, the differences in clinical outcome of each subtype of ischemic stroke in relation to the serum TG level are unknown. This study examined relationship between the serum TG level upon admission and the clinical outcome at discharge in each subtype of acute ischemic stroke. METHODS: Four hundred and fifty consecutive patients with their first-ever ischemic stroke, who admitted between January 2004 and December 2006, were examined retrospectively. The serum TG level was measured within 24 hours after stroke onset. The subtypes of stroke were classified according to the Trial of ORG 10172 in the Acute Stroke Treatment (TOAST) classification. The severity and outcome of stroke were assessed using the National Institutes of Health Stroke Scale (NIHSS) score upon admission, at discharge, and 4 weeks after discharge. The population was divided into 3 groups according to the serum TG level (Normal TG group : serum TG level 150mg/dl, Borderline-high TG group : 150 degrees ¬ TG< 200mg/dl, High TG group : serum TG level 200mg/dl) and 2 groups by NIHSS score (Improved outcome group: NIHSS score decreased or unchanged, Worsened outcome group: NIHSS score increased). The relationship between the level of TG of each stroke subtype and the clinical outcome of those patients was analyzed. RESULTS: The study population was divided into three groups, according to the serum TG level. The Normal TG group consisted of 128 patients (mean serum TG level : 74.0 17.2mg/dl). The borderline-high TG group consisted of 230 patients (mean serum TG level : 168.9 20.4 mg/dl). The high TG group consisted of 92 patients (mean serum TG level : 474.5 197.0 mg/dl). Hypertension and diabetes are prevalent in the high TG group, which also had higher incidence of large artery disease in the TOAST classification. The normal TG group showed more severe stroke upon admission and a poor clinical outcome after 4 weeks than the other two groups (p<0.05). Each TOAST classification of TG group showed a similar clinical outcome. CONCLUSION: The normal TG group had a more severe the stroke and poorer clinical outcome than the other groups. TG may play a role as a protective factor in the acute stage of ischemic stroke.

A Case of Krabbe Disease Confirmed by Identification of Mutations in the Galactocerbroside beta-galactosidase Gene (GALC)

Krabbe disease is an autosomal recessive disorder involving white matter caused by deficient activity of the lysosomal galactocerebrosidase (GALC). A typical infantile-onset patient shows developmental regression, spasticity, and seizure before 6 months of age, and dies within 2 years. Previously, one case was confirmed by an enzyme test in Korea. We herein report a 2 year-old girl who showed the characteristic clinical course and neuroimaging features of infantile-onset Krabbe disease. Genetic testing identified the compound heterozygote mutations in the GALC gene; NLWE212_215TP/302A.