A Case Report of Miller-Dieker Syndrome / 대한주산의학회잡지

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly (lissencephaly type 1) and distinct facial features. Children with MDS present with severe developmental delay, epilepsy and feeding problems. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachy- gyria. Prenatal diagnosis is available and consists of fetal chromosomal analysis by karyotyping or fluorescence in situ hybridization (FISH), on chorion villus sampling or amniocentesis. Sonographic diagnosis in general cannot be accomplished earlier than late second trimester, when the characteristic cerebral anomalies can be noted. The progressive microcephaly and failure of development of both sulci and gyri are suggestive of lissencephaly. We report the case of a pregnant woman of 24 weeks gestation who presented with ventriculomegaly on antenatal sonography and hydrocephalus, and corpus callosum agenesis on fetal MRI, which was diagnosed as MDS by karyotyping and FISH on amniocentesis.

Colonization Rate, Risk Factor for Acquisition and Genetic Diversity of Vancomycin-Resistant Enterococci (VRE) Isolated from Rectal Culture of Patients in Intensvie Care Units from Ten Large Hospitals in Korea / 감염

BACKGROUND: VRE have become an emerging nosocomial pathogen in Korea, but there has not been nationwide study on the colonization of VRE among high risk groups of hospitalized patients. The purpose of this study was to determine the prevalence of rectal colonization of VRE among patients hospitalized in the intensive care unit (ICU), to study the risk factors for nosocomial acquisition of VRE among those patients, to define the genetic diversity of VRE strains in major hospitals in Korea. METHODS: Between January the 20th and 30th of 2000, a point surveillance study was conducted in the ICU of the ten large hospitals, which were located nationwide. Surveillance rectal swab cultures for detecting VRE were obtained among 214 patients admitted to the ICU during the study period. To isolate VRE, rectal swab cultures were performed on Enterococcosel(R) agar that containing 6 microgram/mL of vancomycin. Minimal inhibitory concentrations (MICs) of vancomycin and teicoplanin were determined by agar dilution method. For the genotyping of VRE isolates, the detection of vanA, vanB, vanC1 and vanC2 gene by polymerase chain reaction was done. Pulsed-field gel electrophoreis (PFGE) was used for elucidating the genetic relatedness of VRE isolates. To identify the risk factors for rectal VRE colonization, patients harboring VRE were compared to patients who were not colonized with this organism. RESULTS: The rectal colonization rate of VRE was variable from 9.7% to 51.9% according to hospital. 64 VRE strains which were isolated from 63 patients included 37 E. feacium. 26 E. gallinarum and 1 E. casseliflavus isolates. Therefore the colonization rate of clinically significant vanA type VRE was 17.3% (37/ 214). 37 E. feacium. 26 E. gallinarum and 1 E. casseliflavus isolates were presented as vanA, vanC1 and vanC2 genotypes, respectively. Risk factors for rectal VRE colonization included the presence of chronic illness, previous use of broad spectrum antibioitcs es-pecillay vancomycin, and prolonged stay in ICU. Various PFGE patterns are noted among vanA type VRE isolates, so individual acquisition of VRE during stay in the majority of ICUs were suggested. But there is some evidence of focal VRE spread within the ICU and between hospitals. CONCLUSION: This study demonstrated the high rectal colonization rate (17.3%) of clinically significant vanA type VRE among patients admitted to the ICUs of ten large hospitals located nation-widely. This study suggested that practicing HICPAC guidelines, restricted vancomycin usage and periodic surveillance cultures in patients with high risk factors are important in preventing the emergence and spread of VRE infection among ICU patients.