MRI Finding of Ethylmalonic Encephalopathy: Case Report

Ethylmalonic encephalopathy is a rare syndrom characterized by developmental delay, acrocyanosis, petechiae, chronic diarrhea, and ethylmalonic, lactic, and methylsuccinic aciduria. We report the MRI finding of ethylmalonic encephalopathy including previously unreported intracranial hematoma.

Marshall-Smith Syndrome: Case Report

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

MR Findings of Spinal Cord in Decompression Sickness

PURPOSE: To determine the MR imaging findings of spinal cord decompression sickness. MATERIALS AND METHODS: We retrospectively analysed the spinal MR images of eight patients (M : 6, F : 2) with decompression sickness affecting the cervical spine (n=1) or thoracic spine (n=7). The observed extent, location, continuity, signal intensity and contrast enhancement pattern of spinal cord lesions were analysed. RESULTS: The chief MR finding was continuous (n=2) or non-continuous (n=3) high signal intensity on T2-weighted images in the posterior paramedian spinal cord. In three cases, additional T2 signal abnormality in the ventral horn of the gray matter was observed. There was no signal intensity abnormality on T1- weighted images or abnormal enhancement on post-Gadolinium T1-weighted images. In one case, cord swelling in addition to T2 signal abnormality was observed. CONCLUSION: MR imaging is useful for evaluating spinal cord lesions in patients with decompression sickness.

A Pitfall in the Diagnosis of Bilateral Choanal Atresia: A Case Report

Choanal atresia is a rare congenital anomaly involving unilateral or bilateral posterior nasal choanal obstruction. Multiple associated anomalies have been described. We describe the case of a 1-month-old boy with bilateral choanal atresia, misdiagnosed after CT as a midline meningocele because the floor of the midline anterior cranial fossa was not ossified and secretion had accumulated in the obstructed posterior nasal choana.

No Association between 102T/C and 452His/Tyr Polymorphisms of 5-HT2A Receptor Gene and Schizophrenia in Korean Population / 신경정신의학

OBJECTIVES: This study was designed to investigate the association between the silent mutation, 102T/C and the substitution of histidine by tyrosine at position 452, 452His/Tyr polymorphism of the 5HT2A receptor gene and schizophrenia in korean population. METHOD: 102T/C and 452His/Tyr polymorphism of the 5-HT2A receptor gene was typed with PCR in 93 patients with schizophrenia and 93 healthy controls. RESULTS: 1) Genotype of 102T/T, 102T/C, 102C/C were 37(40%), 34(36%), and 22(24%), res-pectively in the patients with schizophrenia. Genotype of 102T/T, 102T/C, 102C/C were 31(33%), 41(44%), and 21(23%), respectively in the controls, Allele frequencies of 102T in the patients with schizophrena was 0.58 and that in the controls was 0.55. Allele frequencies of 102C in the patients with schizophrena was 0.42 and that in controls was 0.45. There were no differencies in genotype and allele frequency of 102T/C between the patients with schizophrenia and the controls. 2) 452His/Tyr polymorphism of the 5-HT2A receptor gene was not founeded in the patients with schizophrenia and in the controls. CONCLUSION: These results suggest 102T/C and 452His/Tyr polymorphisms of the 5-HT2A receptor gene are not causally related to the development of schizophrenia in Korean population.

MR Imaging with FLAIR Pulse Sequence in Various Cerebral Lesions: Comparison with T2-Weighted Imaging

PURPOSE: To evaluate the utility of fluid-attenuated inversion recovery(FLAIR) sequence by comparing thesignal intensities in various cerebral lesions with those on T2-weighted MR imaging. MATERIALS & METHODS: In 41patients who showed different signal intensities between T2-weighted images and FLAIR sequences, we reviewed theVirchow-Robin space(VRS), acute or chronic infarctions including lacunar cavities, and postoperativeencephalomalacia. In all patients, the location, shape and size of abnormal signal intensities were evaluated. RESULTS: The hyperintensities of VRS and lacunar infarctions on T2-weighted imaging appeared as hypointensitieson FLAIR imaging. The hyperintense rims or crescents around lacunar cavities were only detected on FLAIR imaging.The extent of acute and chronic infarctions with homogenous hyperintensities seen on T2-weighted images was welldelineated on FLAIR imaging. Postoperative encephalomalacia and adjacent lesions showed low and high signalintensities, respectively, on FLAIR imaging, though they were hyperintense on T2-weighted images. CONCLUSION: ForVRS, infarction and encephalomalacia, FLAIR provides images that are superior to T2-weighted images, and may thusbe useful as an additional MR sequence in various cerebral lesions.

Choledochal Cysts in Children: Pre- and Postoperative Radiological Evaluation

PURPOSE: To review the type, incidence and radiologic findings and to evaluate the clinical significance of intrahepatic duct dilatation of choledochal cysts in children. MATERIALS AND METHODS: Ultrasonography and operative cholangiography of 49 consecutive children with surgically confirmed choledochal cyst were reviewed and classified according to the Todani's classification. Patients with intrahepatic duct dilatation in preoperative evaluation were routinely followed by ultrasonography after surgery of extrahepatic bile duct. The status of bileduct was evaluated by comparing with the preoperative ultrasonography. RESULTS: According to the preoperative evaluation, there were 19 cases(39%) of type Ia, three cases(6%) of type Ib, ten cases(20%) of type Ic, 15 cases(31%) of type IVa, two cases(4%) of type V, but no case of the type II, III, IVb in Todani's classification.In twelve of 13 patients (five cases of type I and eight cases of type IVa) who had been followed up after surgery of choledochal cyst, the previously noted intrahepatic ductal dilatation were no longer seen. CONCLUSION: The incidence of the types of choledochal cysts by Todani's classification shows no significant difference between our result and the other authors'. The intrahepatic ductal dilatation seems to be reversible and mainly secondary to extrahepatic obstruction by choledochal cyst. Thus, postoperative follow up examination is more important than preoperative classification of bile duct dilatation.