A Case of Miller-Dieker Syndrome without Characteristic Facial Anomaly / 대한진단검사의학회지

Miller-Dieker syndrome is a multiple malformation syndrome characterized by severe lissencephaly and characteristic facial abnormalities at birth. It is associated with visible or submicroscopic deletions within chromosome 17p13.3 including PAFAH1B1 (LIS1) gene. We report a six-month-old boy who presented with spasm and generalized myoclonic seizures. The patient was born at 40 weeks' gestation to a 36-year-old woman and showed developmental delay without microcephaly or prominent facial abnormality. Magnetic resonance imaging of the brain showed a few gyrus (lissencephaly). High resolution cytogenetic analysis from peripheral blood showed a normal karyotype. However, fluorescence in situ hybridization (FISH) of the metaphase chromosome using Miller-Dieker/ILS probe (Oncor, Gaithersburg, Maryland, USA) revealed only one signal of probe, indicating a microdeletion of 17pl3.3 region including PAFAH1B1 (LIS1) gene. We suggest that FISH 17p13.3 studies should be performed in addition to a standard metaphase analysis in patients with lissencephaly even if facial anomaly is not noted. A confirmatory diagnosis using FISH would be helpful in terms of leading to allow genetic counseling and availability prenatal diagnosis to the family.

Assessment of risk factors of coronary heart disease in a university hospital using the Framingham risk score

BACKGROUNDS: Ischemic heart diseases has increased by more than 80% in the past 10 years among Korean and the global risk assessment of coronary heart disease(CHD) based on the relative risk factors to the probability of developing CHD became widely used for western populations. In this study we hope to provide information on the distribution and characteristics of the relative risks of CHD using the Framingham risk score. METHODS: This Study involved the subjects who visited a university hospital for health promotion from 1995 to 2000 without CHD. We surveyed medical history of the subjects, and measured their blood pressure, serum glucose, total cholesterol(total C) and HDL cholesterol(HDL C). Risk points from the Framingham chart were given to age, systolic BP, total C, HDL C, smoking, diabetes, and the global risk score was calculated from their sum. We analyzed the global risk scores and each risk points of the high risk groups. RESULTS: For younger and older men in the high risk group, the factors smoking and high blood pressure had the highest score assigned respectively. With younger women total C had the highest score assigned, and with older women diabetes took over but HDL C and high blood pressure still had a higher score. CONCLUSION: For primary prevention of CHD, younger men need active education to quit smoking and for older aggressive blood pressure control is desperately needed. For women, concern about low HDL C is highly needed and after menopause aggressive treatment for diabetes, high blood pressure, low HDL C is needed.