Early onset cerebellar ataxia with retained tendon reflexes is clinical syndrome characterized by progressive cerebelar ataxia of unknown etiology with an onset within the first two decades. This disorder was distinguished from Friedreich's ataxia by the preservation of the tendon reflexes. We have experienced a case of early onset cerebellar ataxia with retained tendon reflexes which was diagnosed by clinical features, eletrophysiologic studies, and MRI scan. This 8 year-old male patient had suffered from gait ataxia with delayed growth and development since 3 years of age. A brief review of the related literatures was also made.
Ataxia ; Cerebellar Ataxia ; Child ; Friedreich Ataxia ; Gait Ataxia ; Growth and Development ; Humans ; Magnetic Resonance Imaging ; Male ; Reflex, Stretch* ; Spinocerebellar Degenerations* ; Tendons*

Early onset cerebellar ataxia with retained tendon reflexes is clinical syndrome characterized by progressive cerebelar ataxia of unknown etiology with an onset within the first two decades. This disorder was distinguished from Friedreich's ataxia by the preservation of the tendon reflexes. We have experienced a case of early onset cerebellar ataxia with retained tendon reflexes which was diagnosed by clinical features, eletrophysiologic studies, and MRI scan. This 8 year-old male patient had suffered from gait ataxia with delayed growth and development since 3 years of age. A brief review of the related literatures was also made.
Ataxia ; Cerebellar Ataxia ; Child ; Friedreich Ataxia ; Gait Ataxia ; Growth and Development ; Humans ; Magnetic Resonance Imaging ; Male ; Reflex, Stretch* ; Spinocerebellar Degenerations* ; Tendons*

Cerebral gigantism(Sotos syndrome) is a growth disorder that consists of large size at birth, rapid early growth rate with accompanying advanced bone age, acromegalic features, and developmental delay. Clumsiness in the absence of other abnormal neurologic findings is common. The cause is unknown. We report here a case of 238/12-year-old Sotos syndrome with final adult height above 97 percentile, abnormal brain MRI findings(large ventricles, prominent trigone, prominent occipital horn & thining of corpus callosum), clumsiness, and some behavioral problems.
Adult ; Animals ; Brain ; Growth Disorders ; Horns ; Humans ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Parturition ; Sotos Syndrome

PURPOSE: To report a patient with malignant conjunctival melanoma with extensive corneal invasive growth. METHODS: A 63-year-old woman with 9 x 7 mm sized dark brown colored conjunctival mass with extensive corneal invasive growth over a 3-month history was seen. The mass was removed and biopsy was done. Fontana-Masson, S-100 protein, and HMB stainings were used to confirm the diagnosis of malignant melanoma. RESULTS: The tumor was easily separated from the corneal surface and adjacent conjunctiva was excised. Fontana-Masson, S-100 protein, and HMB stainings revealed corneally-displaced malignant conjunctival melanoma. There was no evidence of metastasis. CONCLUSIONS: Corneally displaced malignant conjunctival melanoma was very rare. A good surgical result was obtained with its removal.
Female ; Humans ; Biopsy

No abstract available.
Sensation* ; Zygote Intrafallopian Transfer*

PURPOSE: Thallium (TI+) autometallography is often used for the imaging of neuronal metabolic activity in the rodent brain under various pathophysiologic conditions. The purpose of this study was to apply a thallium autometallographic technique to observe changes in neuronal activity in the forebrain of rats following acute carbon monoxide (CO) intoxication. METHODS: In order to induce acute CO intoxication, adult Sprague-Dawley rats were exposed to 1100 ppm of CO for 40 minutes, followed by 3000 ppm of CO for 20 minutes. Animals were sacrificed at 30 minutes and 5 days after induction of acute CO intoxication for thallium autometallography. Immunohistochemical staining and toluidine blue staining were performed to observe cellular damage in the forebrain following intoxication. RESULTS: Acute CO intoxication resulted in significant reduction of TI+ uptake in major forebrain structures, including the cortex, hippocampus, thalamus, and striatum. In the cortex and hippocampal CA1 area, marked reduction of TI+ uptake was observed in the cell bodies and dendrites of pyramidal neurons at 30 minutes following acute CO intoxication. There was also strong uptake of TI+ in astrocytes in the hippocampal CA3 area following acute CO intoxication. However, there were no significant histological findings of cell death and no reduction of NeuN (+) neuronal populations in the cortex and hippocampus at 5 days after acute CO intoxication. CONCLUSION The results of this study suggest that thallium autometallography can be a new and useful technique for imaging functional changes in neural activity of the forebrain structure following mild to moderate CO intoxication.

PURPOSE: To report a case of retinal detachment surgery in a patient with oculocutaneous albinism. CASE SUMMARY: A 44-year-old man visited our clinic complaining of decreased visual acuity in his left eye. His best corrected visual acuity was hand movement in his left eye, and rhegmatogenous retinal detachment involving the macula at the superior temporal site was found. We performed pars plana vitrectomy and attempted to reattach the retina using endolaser photocoagulation; however, the laser burn was not made, and we failed to reattach the retina. At that point, we carried out cryopexy around the retinal tear, and injected silicone oil into the vitreous cavity. Ten months after surgery, his best corrected visual acuity was 0.06, and there was no recurrent retinal detachment or proliferative vitreoretinopathy. CONCLUSIONS: In patients with albinism with melanin deficiency, cryopexy is more useful than laser photocoagulation for retinal detachment surgery.
Adult ; Albinism ; Albinism, Oculocutaneous ; Burns ; Eye ; Hand ; Humans ; Light Coagulation ; Melanins ; Retina ; Retinal Detachment ; Retinal Perforations ; Retinaldehyde ; Silicone Oils ; Visual Acuity ; Vitrectomy ; Vitreoretinopathy, Proliferative

We experienced a case of aldosterone and cortisol secreting adrenal adenoma associated with pregnancy in a 23 year old female patient.The patient complained of severe thoraco-lumbar pain, weight gain, sweating, anxiety, and mild abdominal discomfort. On physical findings, hypertension, tachycardia, facial plethora, moon face, buffalo hump and truncal obesity were found.
Adenoma ; Aldosterone ; Anxiety ; Buffaloes ; Female ; Humans ; Hydrocortisone ; Hypertension ; Moon ; Obesity ; Pregnancy ; Sweat ; Sweating ; Tachycardia ; Weight Gain

OBJECTIVE: The authors examined the efficacy of citalopram, and its effect on the quality of life in patients with panic disorder. METHOD: Seventy three patients who had panic disorder were recruited for this study. They did not have major depression and other axis I diseases. They were scheduled to be examined 4 times (at baseline, 4, 12 and 24 weeks) and took citalopram for 24 weeks with a flexible dosing schedule. The primary efficacy variables were the response and remission rates (response: HAMA total score decreased by at least 50% from baseline; remission: HAMA total score < or = 7). Other variables included the Hamilton Rating Scale for Depression, Panic Disorder Severity Scale (PDSS), Acute Panic Inventory, Clinical Global Impression Scale and Sheehan Disabilities Scale (SDS). RESULTS: The number of patients who completed 24 weeks of treatment was 33 (45.2%). Forty patients who were dropped out consisted of 4 patients with symptom improvement and 36 patients with failure to return. Response/remission rates were 56.2/31.5% in the last-observation-carried-forward methods and 87.9/69.7% in the observed case data. Treatment with citalopram improved anxiety and depressive symptoms during 24 weeks on all efficacy measures. By a completed patient analysis, citalopram also significantly improved the disability scores on SDS. In this study, any serious adverse effects were not observed. CONCLUSION: Treatment with citalopram was effective and well-tolerated for the patients with panic disorder, and also improved quality of life in the patients.
Anxiety ; Appointments and Schedules ; Axis, Cervical Vertebra ; Citalopram* ; Depression ; Humans ; Panic Disorder* ; Panic* ; Prospective Studies* ; Quality of Life ; Treatment Outcome

BACKGROUND/AIMS: The transmission routes of HCV infection were not determined in the half of the HCV infected patients. So intrafamilial personal contact, sexual contact, vertical transmission and some vectors are supposed as a route of HCV infection. We investigated the prevalence of anti-HCV positivity in healthy Korean children and compared with the data from the healthy adults whether the vertical transmission is feasible. METHODS: Serum samples from 2,080 children in 8 elementary schools were tested for serum aminotransferases, hepatitis B viral markers by radioimmu- noassay, and anti-HCV by the third generation EIA. Sera from anti-HCV positive children were tested for HCV-RNA by RT-PCR. Six months later, same tests were repeated. RESULTS: Anti-HCV was positive in 17 children among 2,080(0.82%). Among 17 anti-HCV positive children, HCV-RNA was detected only in one case and the HCV genotype was type II by Okamotos classification. Anti-HCV was tested again in 7 of 17 anti-HCV positive children after 6 months later and all of these children were anti-HCV positive and additional 3 of 19 family members were anti-HCV positive. But HCV-RAN was not detected in alL CONCLUSION: Anti-HCV positive rate in children was 0.81%.
Adult ; Biomarkers ; Child* ; Classification ; Genotype ; Hepatitis B ; Humans ; Prevalence* ; Transaminases