A nineteen year-old boy with progressive enlargement of the joints and distal extremities, clubbing, coarse facial features and hyperhidrosis was investigated. In physical examination, thickening of the scalp with furrowing (cutis verticis gyrata) and greasy thickening of skin (pachyderma) was prominent. His endocrine profile was normal. Radiological studies demonstrated bilateral symmetrical periosteal new bone formation with acroosteolysis and incidental microadenoma of pituitay gland. After extensive investigation to exclude systemic and endocrine causes, the patient was diagnosed as pachydermoperiostosis (PDP). PDP is a rare syndrome manifested clinically by finger clubbing, extremity enlargement, hypertrophic skin changes, and periosteal bone formation. The pathogenesis of the disorder has not been clarified though few endocrine abnormalities were seen. To aware of these clinical phenotype would help to differentiate PDP from acromegaly.
Acro-Osteolysis ; Acromegaly ; Extremities ; Fingers ; Humans ; Hyperhidrosis ; Joints ; Male* ; Osteoarthropathy, Primary Hypertrophic* ; Osteogenesis ; Phenotype ; Physical Examination ; Scalp ; Skin ; Young Adult*

Guillain-Barre syndrome (GBS) is an autoimmune disease with an acute evolution of inflammatory demyelinating polyradiculoneuropathy. Although the precise immune mechanisms and involved antigens are uncertain, both humoral and cellular immune mechanisms are thought to be involved. Interactions between the various compartments of the immune system are governed by cytokines. Laboratory investigations have shown that immune activation can be quantified by measurement of cytokines and soluble immune activation products in serum. Interleukin-2(IL-2) is probably the best characterized among the many cytokines and soluble interleukin-2 receptor (sIL-2R) and neopterin are major immune activation products. In order to observe activities of cellular immunity of GBS, we measured serum concentrations of IL-2, sIL-2R and neopterin in 28 patients with GBS and in 22 healthy controls. Serial serum samples were drawn 2 to 25 days after motor onset of the disease, 2 to 3 days after treatment with plasmapheresis and 43-300days of follow-up. The occurences of IL-2 positive serum samples were 41.7%, 23.8% and 18.2% in each time in GBS but none in healthy controls. Initial serum sIL-2R and neopterin level were elevated in 21% and 17% of patients with GBS compared with healthy controls. After plasmapheresis, both serum sIL-2R and neopterin level were significantly elevated in GBS compared with initial serum samples and healthy controls. Thus, T-cell and macrophage activation may play a role in the pathogenesis of GBS. However, further study is needed to evaluate the effect of plasmapheresis and clinical severity on the serum concentration of IL-2, sIL-2R and neopterin in GBS.
Autoimmune Diseases ; Cytokines ; Follow-Up Studies ; Guillain-Barre Syndrome* ; Humans ; Immune System ; Immunity, Cellular ; Interleukin-2* ; Macrophage Activation ; Neopterin* ; Plasmapheresis ; Polyradiculoneuropathy ; Receptors, Interleukin-2* ; T-Lymphocytes

PURPOSE: To assess the ability of the Sequential Organ Failure Assessment (SOFA) score to predict the prognosis and organ dysfunction in the paraquat poisoning. METHODS: We retrospectively evaluated 281 paraquat poisoning patients who arrived at Soonchunhyang University Cheonan Hospital between Sep 2007 and Dec 2008. Sixty eight patients (68) were excluded due to missing data. Finally, 213 patents were included in this study. We investigated the degree of paraquat exposure, the Glasgow coma scale, vital signs, blood laboratory tests, calculated SOFA score, and Yamaguchi Index on first hospital day. The prognostic prediction was compared between SOFA score and Yamaguchi Index. RESULTS: The urine dithionite test, the amount of paraquat ingestion, arrival interval, aerum paraquat, Glasgow coma scale, HCO3-, potassium, and creatinine were significantly different between survivors and non-survivors. The Hosmer and Lemeshow Goodness-of-Fitness test of SOFA score (p=0.419) and Yamaguchi Index (p=0.084) indicated a good model performance. In the logistic regression analysis, p values the SOFA score and for the Yamaguchi Index were lower than 0.05 and the odds ratios were 1.930 and 0.108. At c-statistics, the area under receiver operator characteristic curve of SOFA score was 0.807 and Yamaguchi Index was 0.865. 95% confidence SOFA score and Yamaguchi Index Intervals of did not include 0.5. CONCLUSION: The SOFA score on the first day of hospital visit could reliably describe organ dysfunction and could distinguish survivors and non-survivors with reliable accuracy, as well as the Yamaguchi Index did in the case of paraquat poisoning.
Creatinine ; Dithionite ; Eating ; Glasgow Coma Scale ; Humans ; Logistic Models ; Multiple Organ Failure ; Odds Ratio ; Paraquat ; Potassium ; Prognosis ; Retrospective Studies ; Survivors ; Vital Signs

The physical activities of daily living are a final outcome of many functions and dependent on many factors. This study was aimed at exploring the relationships of motor function, dementia, education, age, and cognitive function to the physical activities of daily living in 67 elderly people residing in an institution in Taegu, Korea. Their mean ( +/- SD) age was 75.6 +/- 8.1 and 24 (35.8%) were men. Twenty-eight (41.8%) were classified as having definite cognitive impairment, 17 (25.4%) as having questionable impairment, and 22 (32.8%) as having no impairment by the Korean version of the mini-mental state examination. Of the aforementioned 5 variables, the Motoricity Index could account for 42% of the Barthel Activities of Daily Living variance. If the modified Blessed Dementia Rating Scale was included in the multiple regression, the accountable portion of the Activities variance increased by 4% only. Using the 2 variables, regression equation, y = 0.248 x chi 1-0.359 x chi 2-6.250 (y: Barthel Activities of Daily Living score, chi 1: Motoricity Index score, chi 2: modified Blessed Dementia Rating Scale score) could be produced. Conclusively, the physical activities of daily living of elderly people could be related mainly with motor function of the limbs and severity of dementia.
*Activities of Daily Living ; Age Distribution ; Aged ; Aged, 80 and over ; *Aging ; *Cognition ; *Education ; Female ; Human ; Male ; Middle Age ; *Motor Skills ; Regression Analysis ; Sex Distribution ; Support, Non-U.S. Gov't

PURPOSE: To report a case of masked glaucomatous optic nerve head damage due to acute swelling in a primary open-angle glaucoma patient. CASE SUMMARY: A healthy 21-year-old male visited our clinic complaining of blurred vision in the right eye for 1 week. The intraocular pressure (IOP) was 60 mmHg, as measured by a Goldmann applanation tonometer. No specific anterior segment finding other than severe corneal edema was found on slit lamp examination. Maximum tolerated medical therapy was performed, and a further examination was done 1 day after the IOP lowering. No glaucomatous change in the optic disc or retinal nerve fiber layer was observed on fundus examination and optical coherence tomography (OCT), but the optic disc of the right eye was more hyperemic than that of the left eye. A superonasal visual field defect was also observed using automated perimetry. After treatment, the IOP was kept within the normal range using IOP-lowering eye drops. However, an inferonasal retinal nerve fiber layer defect was observed on fundus examination and OCT, and a superonasal scotoma was detected by perimetry.
Corneal Edema ; Glaucoma, Open-Angle* ; Humans ; Intraocular Pressure ; Male ; Masks ; Nerve Fibers ; Ophthalmic Solutions ; Optic Disk* ; Optic Nerve* ; Reference Values ; Retinaldehyde ; Scotoma ; Slit Lamp ; Tomography, Optical Coherence ; Visual Field Tests ; Visual Fields ; Young Adult

We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.
Adolescent ; Chronic Disease ; Female ; Glycogen Storage Disease Type II/*complications/pathology ; Humans ; Hypoventilation/*etiology/therapy ; Intermittent Positive-Pressure Ventilation ; Muscles/pathology ; Pulmonary Alveoli

Solid pseudopapillary tumor (SPT) of the pancreas is a rare tumor that typically affects young women without causing significant clinical symptoms. No case of SPT in an old man has been reported in South Korea, and such cases are very rare worldwide. We report a 70-year-old man with SPT of the pancreas with multiple organ metastasis. Although surgical resection is the treatment of choice for SPT, we decided not to treat, considering his age and the disease severity.
Aged ; Diagnosis ; Female ; Humans ; Korea* ; Neoplasm Metastasis ; Pancreas*

BACKGROUND: There were several reports that thyroid autoimrnune disease commonly found in myasthenia gravis patients. We performed this study to determine the prevalence of thyroid autoimmune disease as well as analyze correlation between acetylcholine receptor antibody and various thyroid autoantibadies among the myasthenia gravis patients in Korea. METHOD: The patient group, 48 patients, diagnosed as myasthenia gravis from January 1985 to December 1995 at the department of Neurology, Internal medicine at Dongsan Medical Center was compaired to the control group, 40 patients, with no age and sex difference from the patient group. The samples were collected from both group for the measure of the values of acetylcholine receptor antibody, thyroid autoantibody and thyroid hormones. RESULT: 1) The values of acetylcholine receptor antibody in myasthenia gravis group and control group were 5.78+-0.7nM and 0.05+-0.06nM respectively. Of 48 patients with myasthenia gravis, 38 patients have been measured acetylcholine receptor antibody value > 0.5nM, Their mean average value was 7.24+-0.66nM. 2) The severe myasthenia gravis group with value of acetylcholine receptor antibody 0.5nM and severe myasthenia gravis group with value of acetylcholine receptor antibody 0.5nM showed thyroglobulin antibody value of 159.6+-79.91IU/mL versus 56.86+-32.99IU/mL. also thyroid microsomal antibody value showed 159.0+-79.9IU/mL and 23.633+-0.19IU/mL respectively. 3) Of 48 myasthenia gravis patients, 12 patients (24%) had high value of antithyroglobulin antibody or anti-microsomal antibody and 5 patients (10%) had both antibodies at the same times. In contrast, only 3 patients (8%) were observed with high value of either one of antibodies. Patient with both antibodies was not observed in normal control group. CONCLUSION: According to the datas we have obtained, appearence of the thyroid autoantibody is significantly greater in severe myasthenia gravis group than normal control group. Therefore it is suggested that the prevalence of thyroid autoimmune disease is higher in severe myasthenia gravis group than mild myasthenia gravis group or normal control group.
Acetylcholine* ; Antibodies ; Autoimmune Diseases ; Humans ; Internal Medicine ; Korea ; Myasthenia Gravis* ; Neurology ; Prevalence* ; Sex Characteristics ; Thyroglobulin ; Thyroid Diseases* ; Thyroid Gland* ; Thyroid Hormones

Flail arm syndrome (FAS) is a variant of the amyotrophic lateral sclerosis also known as Lou Gehrig's disease. FAS is a kind of motor neuron disease that represents a bilateral proximal muscle wasting of upper extremities. Degenerative cervical spondylosis is a common cause of cervical myelopathy and radiculopathy. The coexistence of cervical spondylosis and motor neuron disease can cause difficulties in diagnosis and treatment. This case is a cervical spondylotic myelopathy associated with FAS who had undergone surgical treatment. After the operation, subjective symptoms of the patient was more aggravated and it may be owing to natural history of FAS. The surgical treatment must be made very carefully in cervical spondylotic myelopathy patient combined with motor neuron disease.
Amyotrophic Lateral Sclerosis ; Arm* ; Diagnosis ; Humans ; Motor Neuron Disease ; Natural History ; Radiculopathy ; Spinal Cord Diseases* ; Spondylosis ; Upper Extremity

Idiopathic thrombocytopenic purpura (ITP) is a disorder caused by the interaction of IgG and other antibodies with the antigen on platelet surface. ITP associated with Guillain-Barre syndrome has been reported rarely to occur in the same patient simultaneously. We presented a young male patient who had acute ITP and Guillain-Barre syndrome at the same time. This case was interesting because IgG might play a prominent role in the development of ITP and Guillain-Barre syndrome. It has been suggested that humoral immune mechanism play a role in the development of Guillain-Barre syndrome.
Antibodies ; Blood Platelets ; Guillain-Barre Syndrome* ; Humans ; Immunoglobulin G ; Male ; Purpura, Thrombocytopenic, Idiopathic