A Case of Krabbe Disease / 대한소아신경학회지

Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside bata-galactosidase. The patient had typical clinical features of Krabbe disease, with irritability, hypertonicity, failure to thrive, and opisthotonic posturing. A brain MRI demonstrates profound white matter demyelination. The diagnosis of Krabbe disease is suspected on the basis of clinical pictures and confirmed by finding markedly reduced galactocerebroside bata-galactosidase activity in leukocyte or cultured fibroblast. Here we present the first reported case of Krabbe disease in Korea confirmed by decreased activity of galactocerebroside bata-galactosidase enzyme in leukocyte.

Evaluation of the Severity in Patients with Bronchial Asthma Using FEF25-75%

PURPOSE: Spirometry, because of its simplicity and reproducibility, has been used to evaluate pulmonary function in childhood asthma. We investigated whether FEF25-75% is the most sensitive parameter among other spirometric parameters in the diagnosis of pulmonary function and airway obstruction. METHODS: This study included 32 children with asthma. We recorded values of spirometry(FVC, FEV1, PEFR, and FEF25-75%) before and after symptomatic improvement and compared them. The values were recorded as a percent of the predicted normal value. RESULTS: The FEV1 value before and after symptomatic improvement was 71.7+/-15.6% and 83.8+/-12.8%, respectively; PEFR was 75.4+/-18.3% and 85.0+/-16.0%; and FEF25-75% was 60.8+/-17.9% and 81.5+/-16.3%. According to symptomatic improvement, FEF25-75% improved more than the other spirometric parameters. Of the 40 cases of spitometric measurement before symptomatic improvement, abnormal FEV1, PEFR, FEF25-75% values were observed in 25, 17 and 28 cases, respectively. There was statistically significant difference between FEF25-75% and PEFR(P=0.005), but not between FEF25-75% and FEV1(P=0.091). After symptomatic improvement, abnormal FEV1, PEFR, and FEF25-75% values were observed in 14, 12 and 9 cases, respectively. There was statistically significant difference between FEF25-75% and FEV1(P=0.044) but not between FEF25-75% and PEFR (P=0.097). The cases of normalized values with symptomatic improvement, 11 in FEV1, 7 in PEFR and 19 in FEF25-75%. CONCLUSION: FEF25-75% showed the most improvement rate before and after symptomatic improvement. FEF25-75% was helpful in the assessment of treatment effectiveness and reversible bronchial responsiveness. However, this study did not suggest that FEF25-75% is the most sensitive measurement of airway obstruction.

The Changes of Production of RANTES and Gro-alpha in Kawasaki Disease

PURPOSE: Kawasaki disease is probably driven by abnormalities of the immune system after infectious insult. In this report, a clinical review with laboratory parameters and the changes of the plasma levels of chemokines(RANTES and Gro-alpha was undertaken according to the clinical stage of Kawasaki disease. METHODS: This investigation included 74 samples from 21 patients(10 boys, 11 girls; mean age, 27.8 months) with Kawasaki disease who met the revised diagnostic guidelines and 5 samples from healthy children. The plasma levels of RANTES and Gro-alpha were measured by enzyme- linked immuno-sorbent assay(ELISA). To analyze the pattern of the gene expression of chemokine mRNA for lymphotactin(Ltn), RANTES, IP-10, MIP-1 beta, MIP-1 alpha MCP-1, IL-8 and I-309 in the peripheral blood monocyte, ribonuclease protection assays(RPA) were performed in 3 patients whose plasma levels of RANTES were very low and not significantly changed after intravenous immunoglobulin(IVIG) treatment. RESULTS: The production of RANTES and Gro-alpha were markedly elevated during the acute and subacute phases of Kawasaki disease compared to those of the normal control. In addition, interestingly, the changing patterns of plasma level of chemokines were not consistent(biphasic) after IVIG treatment. According to the RPA, the expression of RANTES was the most prominent among 8 kinds of chemokines and elevated in all phases of Kawasaki disease. But, there was no ovious relation between clinical characteristics of the disease including the coronary artery dilatation and the level of RANTES. CONCLUSION: These finding suggested that RANTES and Gro-alpha may play an important role in pathophysiology of the Kawasaki disease. Longer follow-up and more case studies will be needed to clearly establish the significance of the changes of RANTES and Gro-alpha in the pathophysiology of Kawasaki disease.