Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization

Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by body overgrowth, facial dysmorphic features and psychomotor delay. The presence of genomic microdeletion or microdu-plication can not be identified by the conventional chromosomal analysis. Microarray comparative genomic hybridization (CGH) is a newly developed molecular cytogenetic technique that enables the identification of minute copy number variation (CNV) in the human genome. Here, we report a case of microdeletion in the 9q22.31-q22.33 region, which included a patched homolog 1 (PTCH1) gene, as detected by CGH and confirmed by fluorescence in situ hybridization (FISH) analyses in a neonate with prenatal onset of macrosomia, dysmorphism, and muscle hypotonia. To the best of our knowledge, this is the first case report of 9q22.3 microdeletion detected by CGH in Korea.

Comparison of Coracohumeral Ligament Thickness between Asymptomatic Shoulders and Adhesive Capsulitis in Korean

OBJECTIVE: To evaluate the difference of coracohumeral ligament (CHL) thickness between asymptomatic shoulders and adhesive capsulitis. METHOD: Ultrasound examination was performed in 44 consecutive shoulders of 24 individuals (12 males and 12 females). Nine were diagnosed as adhesive capsulitis by clinical examination. We measured the maximum thickness of CHL. For CHL assessment, participants were scanned in sitting position with shoulder in maximal external rotation, elbow in 90 degrees flexion, forearm in neutral position, and hand in fist. The transducer was positioned between coracoid process and greater tuberosity of humerus. We used t test to compare the CHL thickness between asymptomatic and adhesive capsulitis and bivariate correlation analysis to assess a correlation between age and CHL thickness. RESULTS: There was a significant positive linear relationship between age and CHL thickness (p<0.01, gamma=0.424). In female, there was a positive linear relationship between age and CHL thickness (p<0.01, gamma=0.610). However, in male, there was no significant correlation (gamma=0.224). The mean value of CHL thickness was 1.53 mm in 9 adhesive capsulitis and 0.92 mm in 35 asymptomatic ones. CHL thickness was significantly greater in adhesive capsulitis than in asymptomatic ones (p < 001). CONCLUSION: The thickened CHL is a good suggestive diagnostic value of adhesive capsulitis.

A Case of Essential Cryoglobulinemic Polyneuropathy Treated with Plasmapheresis: A case report

Peripheral polyneuropathy is caused by various disorders such as diabetes mellitus. Cryoglobulinemia, as a cause of peripheral polyneuropathy, has been well documented in many reports. Recently we experienced a case of essential cyroglobulinemic polyneuropathy and therapeutic effect of plasmapheresis was shown even in chronic periods. In a patient with peripheral polyneuropathy with no known etiology, one should always consider cryoglobulinemia as a cause since early diagnosis and proper treatment will lead to better outcome.

The Relation of Somatosensory Evoked Potentials to Central Post-stroke Pain

OBJECTIVE: To find out the clinical features of central post- stroke pain (CPSP) and how somatosensory evoked potentials (SEPs) are affected in patients with CPSP. METHOD: One hundred and one patients with stroke who showed normal results in nerve conduction study, were enrolled. SEPs were evoked by electrical stimulation of the median and tibial nerves. The results of the SEPs in the CPSP group were compared with those in the non-CPSP group. Brain SPECT (single photon emission computed tomography) was examined and thalamic involvement in SPECT was compared between the groups. RESULTS: Seventeen patients met the diagnostic criteria of CPSP. Nine patients showed normal findings in SEP. Abnormal findings in SEP were not related to the development of CPSP, but those who showed no response in SEP had significantly higher chance of developing CPSP. Thalamic involvement in SPECT was found in thirteen patients with CPSP, but was not related to the development of CPSP. CONCLUSION: Stroke patients who showed severe abnormality in SEP seem to be more likely to have CPSP. Therefore, SEP is thought to be helpful in the prediction of CPSP.

Hypoglycemia-induced Dementia and MR Image-irreversible Restricted Diffusion in Splenium of Corpus Callosum: A case report

The clinical impact of severe hypoglycemic brain insult is ranged from alterations of mental status to profound coma and death. However, the exact mechanism of hypoglycemic brain insult is not well known yet. We report a case of a 75-year-old female with diabetes, who developed dementia after a severe hypoglycemic event. Diffusion-weighted magnetic resonance imaging detected an increased signal intensity in the splenium of corpus callosum. After 6 days, follow-up MRI (T2 weighted imaging) revealed irreversible signal abnormalities in the splenium of corpus callosum. Also, SPECT (Single Positron Emission Computed Tomography) and PET (Positron Emission Tomography) revealed decreased cerebral functions in left parietal, temporal and occipital lobes. This case brings up better understanding for the extent and mechanism of hypoglycemic brain insult.