Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

PURPOSE: Leigh syndrome is a kind of mitochondrial disease with a pathological production of lactate and variable clinical manifestations. Recently biochemical assay of the mitochondrial enzyme activity and MRS are becoming a powerful tool for the definitive antemorterm diagnosis of this disease. The aim of this study was designed to determine the usefulness of biochemical enzyme assay and MRS in Leigh syndrome. METHODS: A clinical study of 8 cases of pediatric patients were diagnosed as Leigh syndrome on the basis of clinical manifestations and MRI features at the department of pediatrics, Ulsan university hospital, from July, 1992 to June, 1997. Biochemical enzyme assay of the cultured skin fibroblasts was consulted to hospital for sick children, Toronto, Canada. Cerebral lactates were detected on MRS were analysed in relation to the MRI findings and lactate levels in the CSF. RESULTS: 1) Age at diagnosis ranged from 7 months to 8.9 years; seven were boys and one was girl. 2) Main clinical symptoms were as follows in the order of frequency; seizure(75%), ophthalmoplegia(50%), hemiplegia(50%), hypotonia(50%), respiratory difficulty(50%), developmental delay(38%), consciousness change(38%), mental retardation( 25%). 3) Anatomical locations of the focal lesions detected on the initial MRI were as follows in the order of frequency; putamen(75%), caudate nuclei(63%), medulla oblongata (18,50%), substantia nigra(38%), thalamus(38%). 4) Biochemical enzyme assay revealed deficiency of NADH cytochrome c reductase (complex I) and deficiency of cytochrome c oxidase(complex N) respectively in 2 patients who had markedly elevated serum and CSF lactate levels and lactate/pyruvate ratio. 5) Cerebral lactates were detected by MRS from 6 lesions of 1 week-4 months old in 6 patients who had normal or mildly elevated serum and CSF lactate levels and lactate/pyruvate ratio. CONCLUSION: MRS detected the brain parenchymal lactate non-invasively from the acute or subacute lesions. Therefore, combined evaluation by MRS and biochemical enzyme assay will provide an important information for the diagnosis and estimation of disease activity in pediatric patients who are suspected to have Leigh syndrome.
Brain ; Canada ; Child ; Consciousness ; Cytochromes c ; Diagnosis ; Enzyme Assays* ; Female ; Fibroblasts ; Humans ; Lactates ; Lactic Acid ; Leigh Disease* ; Magnetic Resonance Imaging ; Medulla Oblongata ; Mitochondrial Diseases ; NADH Dehydrogenase ; Pediatrics ; Skin ; Ulsan

Background & Significance : Hallervorden-Spatz disease (HSD) is a rare neurologic disorder characterized by progressive dystonia, retinal degeneration, pyramidal sign, and mental deterioration. The neuropathological findings include preferential deposition of iron within the extrapyramidal nuclei, including globus pallidus, substantia nigra, and red nuclei. The final diagnosis depends on the typical pathologic findings. MRI brain imaging study commonly shows so-called "eye-of-the-tiger" in the globus pallidus. However 1H-MRS findings of HSD have not been reported. We experienced a case with clinically suspicious HSD whose diagnosis was further supported by 1H-MRS. Case : A forty four year-old man presented with slowly progressive dystonia for six years. He had been well until age of thirty eight, when he noticed clumsy hand-writing. Three years later, he developed difficulty in chewing. Clumsiness of his hands and arm movements progressed to the point of difficulty in using spoon and chopsticks. While walking, arm swing was decreased and both arms and neck took more dystonic posture. Brain MRI (T2Wl) showed symmetric high signal intensity lesions in the globus pallidus, surrounded by a peripheral zone of exaggerated low signal. On 1H-MRS of basal ganglia, although choline, creatine and N-acetyl-aspartate (NAA) peaks were detected, marked noise probably due to paramagnetic substance (iron), made quantitative analysis difficult. Conclusion : 1H-MRS of HSD is characterized by "noise", which may be suggestive of HSD.
Adult* ; Arm ; Basal Ganglia ; Brain ; Choline ; Creatine ; Diagnosis ; Dystonia ; Globus Pallidus ; Hand ; Humans ; Iron ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy* ; Mastication ; Neck ; Nervous System Diseases ; Neuroimaging ; Noise ; Pantothenate Kinase-Associated Neurodegeneration* ; Posture ; Protons* ; Retinal Degeneration ; Substantia Nigra ; Walking

No abstract available.
Arteries* ; Atherectomy*

Pelvic actinomycosis is a chronic suppurative and granulomatous disease with multiple abscess and draining sinus tracts caused by Actinomyces, a Gram-positive, anaerobic, non-acid-fast bacterium. Pelvic actinomycosis is a rare disease, but it is more common with intrauterine device users than others. The symptoms and signs of pelvic actinomycosis are variable, from asymptomatic to mimicking the symptoms and signs of pelvic mass or acute peritonitis, and sometimes it is difficult to discriminate pelvic malignancy from actinomycosis. Identifying the typical "sulfur granule" with hematoxylin-eosin stain and detecting the actinomycotic colony in Gram stain may suggest the diagnosis. We have experienced a case of pelvic actinomycosis complicated by right tuboovarian abscess in a 39-year-old woman using intrauterine device and report it with brief review of literatures.
Abscess* ; Actinomyces ; Actinomycosis* ; Adult ; Diagnosis ; Female ; Humans ; Intrauterine Devices ; Peritonitis ; Rare Diseases

Pelvic actinomycosis is a chronic suppurative and granulomatous disease with multiple abscess and draining sinus tracts caused by Actinomyces, a Gram-positive, anaerobic, non-acid-fast bacterium. Pelvic actinomycosis is a rare disease, but it is more common with intrauterine device users than others. The symptoms and signs of pelvic actinomycosis are variable, from asymptomatic to mimicking the symptoms and signs of pelvic mass or acute peritonitis, and sometimes it is difficult to discriminate pelvic malignancy from actinomycosis. Identifying the typical "sulfur granule" with hematoxylin-eosin stain and detecting the actinomycotic colony in Gram stain may suggest the diagnosis. We have experienced a case of pelvic actinomycosis complicated by right tuboovarian abscess in a 39-year-old woman using intrauterine device and report it with brief review of literatures.
Abscess* ; Actinomyces ; Actinomycosis* ; Adult ; Diagnosis ; Female ; Humans ; Intrauterine Devices ; Peritonitis ; Rare Diseases

Sinus of Valsalva aneurysms are rare cardiac anomalies and are usually caused by the separation of the aortic wall media from the valve ring tissue. These aneurysms frequently rupture into the low-pressure areas like the right ventricle and right atrium, rarely do they rupture into the left atrium, left ventricle, pericardial sac, or pulmonary artery. Cerebral infarction has been reported as a rare complication of unruptured sinus of Valsalva aneurysm. We experienced very rare two cases of Valsalva aneurysms of right coronary sinus dissecting into the interventricular septum in patients with cerebral infarction. In two cases these aneurysms ruptured into the left ventricle. These aneurysms were excised and the defect was closed with autopericardium. At the end of the surgical repair, coaptation was found to be insufficient and aortic valve replacement was undertaken.
Aneurysm* ; Aortic Valve ; Cerebral Infarction* ; Coronary Sinus ; Heart Atria ; Heart Ventricles ; Humans ; Pulmonary Artery ; Rupture ; Sinus of Valsalva*

BACKGROUND AND OBJECTIVE: Percutaneous transluminal coronary angioplasty of chronic total occlusion has been limited by a relatively low success rate and a high restenosis rate. This study investigated procedural outcome, factors predictive of procedural success and safety of coronary angioplasty for chronic total coronary occlusion. MATERIALS AND METHODS: The study population was composed of 45 lesions attempting PTCA with or without stent implantation for recanalization of chronic total coronary occlusion between January 1997 and July 1999. The clinical and angiographic data of the 45 lesions were reviewed. The results of successful PTCA in 28 lesions were compared with those in 17 lesions whose PTCA was failed. RESULTS: The overall success of balloon angioplasty and stenting was achieved in 28 lesions (62.2%) and did not differ significantly by clinical variables. The most common cause of failure of balloon angioplasty was inability to pass the guide wire across the occlusion( 14 of 23 lesions, 61%). Procedural success was more common in patients with occlusions with a tapered entry configuration(77.2% vs. 47.8%, p=.042), with lesions without side branches(82.3% vs. 50%, p=.03). Multiple logistic regression analysis identified the absence of side branch(p<0.01) and the presence of a tapered entry configuration(p<0.05) as independent predictors of procedural success. One case(2.2%) needed emergency coronary bypass surgery after failure to recanalize the occluded vessel. There was no Q wave acute myocardial infarction, death. CONCLUSIONS: The favorable cases(>60%) of chronic total coronary occlusions can be successfully dilated by balloon angioplasty with or without stent implantation, with a major complication rate of 2.2%. Therefore, with careful patient selection, we need to try the aggressive recanalization for chronic total coronary occlusion.
Angioplasty ; Angioplasty, Balloon ; Angioplasty, Balloon, Coronary* ; Coronary Occlusion ; Emergencies ; Humans ; Logistic Models ; Myocardial Infarction ; Patient Selection ; Stents

PURPOSE: The purpose of this study was to evaluate the efficacy and safety of Us-guided percutaneous ethanolinjection for the treatment of benign cold thyroid nodules. MATERIALS AND METHODS: Twenty-five patients withbenign cold thyroid nodules (volume of each at least 2ml proven by PCNA to be adenomatous hyperplasia, and coldnodule by thyroid scan) underwent a total of one to three percutaneous ethanol injections (PEI) at intervals ofone or two months. The mean amount of ethanol used was 6.2(range, 1.5-8)ml, depending on the volume of the nodule. Follow up ultrasonography was performed one to four months after the final session. RESULTS: The initial volumeof nodules was 11.4+/-4.1(range, 2.5-41.4)ml, and in all cases this fell by 56.1+/-22.3%(range, 10.9-92.1%);in allcases, follow-up ultrasonography showed that echogeneity was lower and its pattern was heterogeneous. Trere wereno important longstanding complications; the most common side effect was acute pain at the injection site(n=9),and in one case, transient vocal cord palsy occurred. CONCLUSION: our results show that US-guided percutaneousinjection of ethanol is an effective and a safe procedure for the treatment of benign cold thyroid nodules, and isthus an alternative to surgery of hormone therapy.
Acute Pain ; Ethanol* ; Follow-Up Studies ; Humans ; Hyperplasia ; Proliferating Cell Nuclear Antigen ; Thyroid Gland* ; Thyroid Nodule* ; Ultrasonography ; Vocal Cord Paralysis

Effects of melatonin on hepatic glutathione-peroxidase (GSH-Px) and glutathione-reductase (GSH-reductase) activities were studied in Sprague-Dawley (SD) rats administered i.p. (10 mg/kg body weight) with melatonin during 15 days. The activity of cytosolic GSH-reductase in the liver was not changed by melatonin. However, melatonin injection increased significantly the activity of liver cytosolic GSH-Px activity compared with those in saline-treated rats. At the same time, plasma GSH-Px was also increased significantly in melatonin-treated rats. Since GSH-Px, a major antioxidative enzyme, removes H-2O-2 and lipid peroxides which are formed during lipid peroxidation from cellular membrane, such elevation of heptatic GSH-Px activity may contribute to the improvement of antioxidative effects under oxidative damage in the liver.
Animals ; Cytosol ; Lipid Peroxidation ; Lipid Peroxides ; Liver ; Melatonin* ; Membranes ; Plasma ; Rats ; Rats, Sprague-Dawley*