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1.  Total Anomalous Pulmonary Venous Return in Siblings 
Total anomalous pulmonary venous return (TAPVR) is a rare and critical congenital vascular anomaly that requires an early operation. However, initial symptoms of TAPVR may be non-specific, and cardiovascular findings may be minimal. The heart may not be enlarged and there is often no cardiac murmur. Without cardiac murmur, these symptoms are similar to those of respiratory distress syndrome in newborns. Therefore, a high degree of suspicion and an early diagnosis of TAPVR are important. This condition generally occurs without a family history and has a low recurrence rate, but several familial cases, including siblings, have been reported worldwide. Additionally, several chromosomal or gene abnormalities associated with TAPVR have been reported. In the case presented here, two brothers with a 6-year age gap were diagnosed with TAPVR. Surgery was performed without cardiac or neurological complications. This is the first report on TAPVR in siblings in Korea.
PMCID: PMC4286644  PMID: 25580197
Total anomalous pulmonary venous return; TAPVR; Sibling
2.  A case of thyrotoxic periodic paralysis as initial manifestation of Graves' disease in a 16-year-old Korean adolescent 
Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism, with recurrent muscle paralysis and hypokalemia that are caused by an intracellular shift of potassium. TPP is relatively common in Asian males, but is extremely rare in children and adolescents, even for those of Asian descent. We describe a 16-year-old Korean adolescent presenting with a two-week history of episodic leg weakness in the morning. He showed sinus tachycardia, lower leg weakness, and hypokalemia. Thyroid function test showed hyperthyroidism, and thyroid ultrasonography revealed a diffuse enlarged thyroid with increased vascularity, consistent with Graves' disease. He was treated with β-adrenergic blocker and antithyroid drugs. He has been symptom free for one year, as his hyperthyroidism has been controlled well with antithyroid drugs. TPP should be considered in children and adolescents with acute paralysis of the lower extremities and hypokalemia.
PMCID: PMC4208265  PMID: 25346923
Thyrotoxic periodic paralysis; Graves' disease; Adolescent; Korean
3.  Quantification of cerebral circulation and shunt volume in a tentorial dural arteriovenous fistula using two-dimensional phase-contrast magnetic resonance imaging 
Acta Radiologica Short Reports  2014;3(5):2047981614536559.
Venous hypertension is closely related to poor outcome of a dural arteriovenous fistula (DAVF). However, no direct measurements have been made of the shunt flow and impaired venous drainage that are suggestive of venous hypertension. We present a case of a 35-year-old man who presented with cerebral hemorrhage and underwent coil embolization for tentorial DAVF. Two-dimensional (2D) phase-contrast magnetic resonance imaging (MRI) was used to evaluate temporal changes in the flow volumes of the shunt and venous drainage between before and after embolization. The results demonstrated the feasibility of using 2D phase-contrast MRI to measure the shunt volume of a DAVF, which might be useful for assessing the improvement in cerebral circulation after embolization treatment.
PMCID: PMC4184434  PMID: 25298870
Tentorium; arteriovenous fistula; therapeutic embolization; blood flow velocity; cerebral vein; cine MRI
4.  Primary Bronchial Granular Cell Tumor in an Adult Male 
We report a rare case of granular cell tumor arising in the left lower lobe (LLL) bronchus with secondary obstructive change in a 60-year-old male. The patient was found to have a nodule in the LLL on a computed tomography scan, three months prior to his presentation to the Asan Medical Center. Bronchoscopic biopsies revealed a granular cell tumor. After undergoing LLL lobectomy with bronchoplasty, the patient has not experienced any tumor recurrence.
PMCID: PMC4000886  PMID: 24782979
Granular cell tumor; Bronchial tumor
5.  Parkinsonism as late sequela of organophosphate intoxication 
Delayed morphologic and metabolic change of organophosphate intoxication is rarely reported than those of acute episode. The patient was a 52-year-old woman who had a history of acute organophosphate intoxication, which paralyzed her for one week when she was 25 years old. She recovered slowly to near normal after one year. After 22 years of the acute episode, tremor developed in 2007 followed by bradykinesia, rigidity, and postural instabilities. Brain MRI showed linear atrophy in bilateral striatal area and multiple cysts in anterior caudate nucleus. F-18 fluorodeoxyglucose positron emission tomography revealed multiple hypometabolic areas in bilateral striatum, cerebellar hemisphere, and occipital area.
PMCID: PMC4013729  PMID: 24812459
Cerebellum; F-18 positron-emission tomography; metabolism; organophsphate; parkinsonism; striatum
6.  Diffuse Infiltrative Primary Cardiac Lymphoma with Delayed Extracardiac Involvement 
Chonnam Medical Journal  2014;50(1):27-30.
Primary cardiac lymphoma (PCL) is an extremely rare and fatal neoplasm of the heart. Traditionally, it is defined as lymphoma involving the heart or pericardium. PCL has a poor prognosis because of the diagnostic difficulty and its location. We present the case of a 48-year-old man who presented with pericardial effusion and diffuse cardiac wall thickening. We first suspected infiltrative heart disease. However, even after performing a biopsy, we could not establish an accurate diagnosis. After 20 months, primary cardiac diffuse large B cell lymphoma (DLBCL) was diagnosed by cervical lymph node biopsy. In this case, after chemotherapy, the DLBCL lesions, including cardiac wall thickening, improved. The treatment outcome suggests that the diagnosis was diffuse infiltrative PCL with delayed extracardiac involvement.
PMCID: PMC4022795  PMID: 24855605
Heart; Lymphoma; Diagnosis
7.  A Case of Occupational Hypersensitivity Pneumonitis Associated with Trichloroethylene 
Trichloroethylene (TCE) is a toxic chemical commonly used as a degreasing agent, and it is usually found in a colorless or blue liquid form. TCE has a sweet, chloroform-like odor, and this volatile chlorinated organic chemical can cause toxic hepatitis, neurophysiological disorders, skin disorders, and hypersensitivity syndromes. However, the hypersensitivity pneumonitis (HP) attributed to TCE has rarely been reported. We hereby describe a case of HP associated with TCE in a 29-year-old man who was employed as a lead welder at a computer repair center. He was installing the capacitors on computer chip boards and had been wiped down with TCE. He was admitted to our hospital with complaints of dry coughs, night sweats, and weight losses for the past two months. HP due to TCE exposure was being suspected due to his occupational history, and the results of a video-associated thoracoscopic biopsy confirmed the suspicions. Symptoms have resolved after the steroid pulse therapy and his occupational change. TCE should be taken into consideration as a potential trigger of HP. Early recognition and avoidance of the TCE exposure in the future is important for the treatment of TCE induced HP.
PMCID: PMC3948855  PMID: 24624216
Alveolitis, Extrinsic Allergic; Trichloroethylene; Occupational Exposure; Lung Diseases
8.  Sunitinib Treatment for Metastatic Renal Cell Carcinoma in Patients with Von Hippel-Lindau Disease 
Von Hippel-Lindau (VHL) disease is an autosomal dominant disease that produces a variety of tumors and cysts in the central nervous system and visceral organs, including renal cell carcinoma (RCC). RCC in patients with VHL disease does not frequently metastasize, therefore, the response to treatment and prognosis of metastatic RCC developed in patients with VHL disease has not been reported. Sunitinib is an oral, multitargeted receptor tyrosine kinase inhibitor with antiangiogenic and antitumor activity. Here, we report on four patients with metastatic RCC in VHL disease who received sunitinib and achieved partial responses that have lasted for a prolonged period of time.
PMCID: PMC3893333  PMID: 24454008
Von Hippel-Lindau disease; Neoplasm metastasis; Renal cell carcinoma; Sunitinib
9.  Giant Ascending Colonic Diverticulum Presenting With Intussusception 
Annals of Coloproctology  2013;29(5):209-212.
Diverticular disease of the colon is a common disease, and its incidence is increasing gradually. A giant colonic diverticulum (GCD) is a rare entity and is defined as a diverticulum greater than 4 cm in size. It mainly arises from the sigmoid colon, and possible etiology is a ball-valve mechanism permitting progressive enlargement. A plain abdominal X-ray can be helpful to make a diagnosis initially, and a barium enema and abdominal computed tomography may confirm the diagnosis. Surgical intervention is a definite treatment for a GCD. We report a case of an ascending GCD presenting with intussusception in a young adult.
PMCID: PMC3837087  PMID: 24278860
Giant colonic diverticulum; Ascending colon; Intussusception; Surgical intervention
10.  Hemangiopericytoma of the Posterior Fossa: A Case Report and Review of the Literature 
Intracranial hemangiopericytoma is unusual, and those occurring in the posterior fossa is extremely rare; we report such a rare case of hemangiopericytoma of the posterior fossa. The radiologic findings and gross characteristics of hemangiopericytomas are sometimes quite similar to those of meningiomas. Although extremely rare, the operator should be aware of the existence of this disorder to dexterously manage the aggressive nature and high vascular tendency of hemangiopericytomas. The radiological features and histological findings in this case are discussed in this study.
PMCID: PMC4027105  PMID: 24904899
Hemangiopericytoma; Posterior fossa; Meningioma
11.  Spurious Elevation of Glucose Concentration during Administration of High Dose of Ascorbic Acid in a Patient with Type 2 Diabetes on Hemodialysis 
Yonsei Medical Journal  2013;54(5):1289-1292.
We describe herein a case of life-threatening hypoglycemia due to spurious elevation of glucose concentration during the administration of ascorbic acid in a type 2 diabetic patient. A 31-year-old female was admitted for proliferative diabetic retinopathy treatment and prescribed high dose ascorbic acid. During hospitalization, she suddenly lost her consciousness and her glucose concentration was 291 mg/dL, measured using self-monitoring blood glucose (SMBG) device, while venous blood glucose concentration was 12 mg/dL. After intravenous injection of 50% glucose solution, the patient became alert. We reasoned that glucose measurement by SMBG device was interfered by ascorbic acid. Physicians should be aware of this interference; high dose ascorbic acid may cause spurious elevation of glucose concentration when measuring with SMBG devices.
PMCID: PMC3743206  PMID: 23918584
Self-monitoring of blood glucose; ascorbic acid; hypoglycemia
12.  Delayed Surgery for Parathyroid Adenoma Misdiagnosed as a Thyroid Nodule and Treated with Radiofrequency Ablation 
Endocrinology and Metabolism  2013;28(3):231-235.
Primary hyperparathyroidism occurs as a result of isolated parathyroid adenoma in 80% to 85% of all cases. A 99mtechnetium (99mTc) sestamibi scan or neck ultrasonography is used to localize the neoplasm prior to surgical intervention. A 53-year-old female was referred for the exclusion of metabolic bone disease. She presented with low back pain that had persisted for the past 6 months and elevated serum alkaline phosphatase (1,253 IU/L). Four years previously, she had been diagnosed at a local hospital with a 2.3-cm thyroid nodule, which was determined to be pathologically benign. Radiofrequency ablation was performed at the same hospital because the nodule was still growing during the follow-up period 2 years before the visit to our hospital, and the procedure was unsuccessful in reducing the size of the nodule. The results of the laboratory tests in our hospital were as follows: serum calcium, 14.6 mg/dL; phosphorus, 3.5 mg/dL; and intact parathyroid hormone (iPTH), 1,911 pg/mL. Neck ultrasonography and 99mTc sestamibi scan detected a 5-cm parathyroid neoplasm in the left lower lobe of the patient's thyroid; left parathyroidectomy was performed. This case indicated that thyroid ultrasonographers and pathologists need to be experienced enough to differentiate a parathyroid neoplasm from a thyroid nodule; 99mTc sestamibi scan, serum calcium, and iPTH levels can help to establish the diagnosis of parathyroid neoplasm.
PMCID: PMC3811690  PMID: 24396684
Parathyroid neoplasms; Thyroid nodule; Thyroid ultrasonography
13.  Inflammatory myofibroblastic tumor mimicking hepatocellular carcinoma with dense lipiodol uptake 
Inflammatory myofibroblastic tumor (IMT) of the liver is a very rare lesion that has radiologic similarity with malignant liver tumor. Differential diagnosis of IMT from a malignant lesion of the liver is very important because surgical resection is not mandatory for IMT. Lipiodol computed tomography is a very sensitive and specific diagnostic tool for hepatocellular carcinomas (HCC). Herein, we describe a case of IMT that had dense lipiodol uptake in the tumor and mimicked HCC. To our knowledge, previously, only one case of IMT with dense lipiodol retention has been reported.
PMCID: PMC3729993  PMID: 23908967
Inflammatory myofibroblastic tumor; Lipiodol CT; Liver
14.  Naturally Occurring Mediastinal Teratoma with Malignant Transformation in an Adult Male 
We report a rare case of rhabdomyosarcoma spontaneously arising in an anterior mediastinal teratoma in a 47-year-old male. The patient was found to have an anterior mediastinal mass on a chest X-ray, which was taken two months before his presentation to Asan Medical Center. A subsequent computed tomography scan revealed an 8.9×7.1×8.0 cm heterogeneous mass in the anterior mediastinum. He underwent an excision via median sternotomy. The histopathologic study identified a mature teratoma with embryonal rhabdomyosarcoma.
PMCID: PMC3756166  PMID: 24003416
Mediastinal neoplasms; Rhabdomyosarcoma; Teratoma; Teratoma with malignant transformation
15.  A Case of Isolated Pulmonary Mucormycosis in an Immunocompetent Host 
Mucormycosis is a rare fungal disease that holds a fatal opportunistic fungal infection in diabetes mellitus, hematological malignancy, and immunocompromised host. Isolated pulmonary mucormycosis is extremely rare. Optimal therapy is a combined medical-surgical approach and a management of the patient's underlying disease. Herein, we report a case-study of isolated pulmonary mucormycosis which was being presented as multiple lung nodules in a patient with no underlying risk factors. Considering that the patient had poor pulmonary functions, we treated him with only antifungal agent rather than a combined medical-surgical approach. After treatment with antifungal agent for six months, the nodules of pulmonary mucormycosis were improved with the prominent reductions of size on the computed tomography.
PMCID: PMC3695309  PMID: 23814599
Mucormycosis; Lung; Immunocompetence; Posaconazole
16.  Electrolyte Imbalances and Nephrocalcinosis in Acute Phosphate Poisoning on Chronic Type 1 Renal Tubular Acidosis due to Sjögren's Syndrome 
Journal of Korean Medical Science  2013;28(2):336-339.
Although renal calcium crystal deposits (nephrocalcinosis) may occur in acute phosphate poisoning as well as type 1 renal tubular acidosis (RTA), hyperphosphatemic hypocalcemia is common in the former while normocalcemic hypokalemia is typical in the latter. Here, as a unique coexistence of these two seperated clinical entities, we report a 30-yr-old woman presenting with carpal spasm related to hypocalcemia (ionized calcium of 1.90 mM/L) due to acute phosphate poisoning after oral sodium phosphate bowel preparation, which resolved rapidly after calcium gluconate intravenously. Subsequently, type 1 RTA due to Sjögren's syndrome was unveiled by sustained hypokalemia (3.3 to 3.4 mEq/L), persistent alkaline urine pH (> 6.0) despite metabolic acidosis, and medullary nephrocalcinosis. Through this case report, the differential points of nephrocalcinosis and electrolyte imbalances between them are discussed, and focused more on diagnostic tests and managements of type 1 RTA.
PMCID: PMC3565150  PMID: 23400265
Hypocalcemia; Nephrocalcinosis; Sodium Phosphate; Distal RTA; Sjögren's Syndrome
17.  Polyuria with the Concurrent manifestation of Central Diabetes Insipidus (CDI) & Type 2 Diabetes Mellitus (DM) 
We report a rare case of the concurrent manifestation of central diabetes insipidus (CDI) and type 2 diabetes mellitus (DM). A 56 year-old man was diagnosed as a type 2 DM on the basis of hyperglycemia with polyuria and polydipsia at a local clinic two months ago and started an oral hypoglycemic medication, but resulted in no symptomatic improvement at all. Upon admission to the university hospital, the patient's initial fasting blood sugar level was 140 mg/dL, and he showed polydipsic and polyuric conditions more than 8 L urine/day. Despite the hyperglycemia controlled with metformin and diet, his symptoms persisted. Further investigations including water deprivation test confirmed the coexisting CDI of unknown origin, and the patient's symptoms including an intense thirst were markedly improved by desmopressin nasal spray (10 µg/day). The possibility of a common origin of CDI and type 2 DM is raised in a review of the few relevant adult cases in the literature.
PMCID: PMC3597915  PMID: 23508726
Polyuria; Central diabetes insipidus; Type 2 diabetes mellitus; Water deprivation test
18.  Intrahepatic Portosystemic Venous Shunt: Successful Embolization Using the Amplatzer Vascular Plug II 
Korean Journal of Radiology  2012;13(6):827-831.
A 67-year-old woman presented with memory impairment and behavioral changes. Brain MRI indicated hepatic encephalopathy. Abdominal CT scans revealed an intrahepatic portosystemic venous shunt that consisted of two shunt tracts to the aneurysmal sac that communicated directly with the right hepatic vein. The large tract was successfully occluded by embolization using the newly available AMPLATZERTM Vascular Plug II and the small tract was occluded by using coils. The patient's symptoms disappeared after shunt closure and she remained free of recurrence at the 3-month follow-up evaluation.
PMCID: PMC3484308  PMID: 23118586
Hepatic encephalopathy; Portosystemic shunt; Surgical; Embolization; Therapeutic
19.  Pancreatic hamartoma diagnosed after surgical resection 
A pancreatic hamartoma is a rare benign lesion that may be mistaken for malignancy. A pancreatic hamartoma can present with vague, non-specific symptoms, which can be difficult to diagnose despite modern diagnostic tools. We report here a pancreatic hamartoma diagnosed after surgical resection. A 52-year-old female presented with postprandial abdominal discomfort. Abdominal computed tomography and pancreatic magnetic resonance imaging revealed a 2.2 × 2.5-cm cystic mass in the pancreatic head. The patient underwent a pylorus-preserving pancreaticoduodenectomy. The histopathological and immunohistochemical studies helped make the diagnosis of pancreatic hamartoma. Here, we report a case of pancreatic hamartoma and review the relevant medical literature.
PMCID: PMC3491237  PMID: 23166894
Hamartoma; Pancreas; Pancreaticoduodenectomy
20.  A Promising Treatment for Broncholith Removal Using Cryotherapy during Flexible Bronchosopy: Two Case Reports 
Broncholiths are defined as calcified materials that occur in a tracheobronchial tree or in a cavity communicating with that. Broncholith has variable clinical features. The therapeutic options to remove broncholiths are so variable that clinicians need to select the most safe and effective methods by mass size, mobility, and location. As yet, there is no consistent guideline removing a broncholith. We report 2 successful cases of removing a fixed broncholith by flexible bronchoscopy guided cryoadhesion. With repeated technique of thawing and freezing with ryoprobe, we could extract the fixed broncholith safely. This method is promising as a way to remove broncholith in the future.
PMCID: PMC3517948  PMID: 23236321
Bronchial Diseases; Calculi; Cryotherapy; Bronchoscopy
21.  Unintended Cannulation of the Subclavian Artery in a 65-Year-Old-Female for Temporary Hemodialysis Vascular Access: Management and Prevention 
Journal of Korean Medical Science  2012;27(10):1265-1268.
Ultrasound-guided cannulation of a large-bore catheter into the internal jugular vein was performed to provide temporary hemodialysis vascular access for uremia in a 65-yr-old woman with acute renal failure and sepsis superimposed on chronic renal failure. Despite the absence of any clinical evidence such as bleeding or hematoma during the procedure, a chest x-ray and computed tomographic angiogram of the neck showed that the catheter had inadvertently been inserted into the subclavian artery. Without immediately removing the catheter and applying manual external compression, the arterial misplacement of the hemodialysis catheter was successfully managed by open surgical repair. The present case suggests that attention needs to be paid to preventing iatrogenic arterial cannulation during central vein catheterization with a large-bore catheter and to the management of its potentially devastating complications, since central vein catheterization is frequently performed by nephrologists as a common clinical procedure to provide temporary hemodialysis vascular access.
PMCID: PMC3468767  PMID: 23091328
Hemodialysis; Complication; Central Venous Catheterization
22.  Terson Syndrome Caused by Intraventricular Hemorrhage Associated with Moyamoya Disease 
Terson syndrome was originally used to describe a vitreous hemorrhage arising from aneurysmal subrarachnoid hemorrhage. Terson syndrome can be caused by intracranial hemorrhage, subdural or epidural hematoma and severe brain injury but is extremely rare in intraventricular hemorrhage associated with moyamoya disease. A 41-year-old man presented with left visual disturbance. He had a history of intraventicular hemorrhage associated with moyamoya disease three months prior to admission. At that time he was in comatose mentality. Ophthalmologic examination at our hospital detected a vitreous hemorrhage in his left eye, with right eye remaining normal. Vitrectomy with epiretinal membrane removal was performed. After operation his left visual acuity was recovered. Careful ophthalmologic examination is mandatory in patients with hemorrhagic moyamoya disease.
PMCID: PMC3424178  PMID: 22949967
Moyamoya disease; Terson syndrome; Intraventricular hemorrhage
23.  A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly 
Yonsei Medical Journal  2012;53(3):662-666.
In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm3; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15000/mm3 with giant platelets. Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband.
PMCID: PMC3343441  PMID: 22477015
May-Hegglin anomaly; MYH9; thrombocytopenia; Korean
24.  A Case of Central Retinal Artery Occlusion after Chiropractic Manipulation of the Neck 
Here we report a case of central retinal artery occlusion after chiropractic manipulation on the neck. A 49-year old man presented at the hospital because of sudden visual loss in his right eye after chiropractic neck manipulation. He had received chiropractic manipulation of the neck by a chiropractor eight days prior. When he first visited us, his best corrected visual acuity in his right eye was hand motion. A full ophthalmic examination was performed. There was cherry-red spot in the macula in his right eye. We performed a fluorescein angiogram and cervical color Doppler. The arterio-venous transit time in the fluorescein angiogram was delayed, and we detected stenosis of the right internal carotid artery with diffuse atherosclerotic plaques in the right common carotid artery. We prescribed ginko biloba extract (Tanamin). Three years after his first visit, the best corrected visual acuity of his right eye was 20 / 200.
PMCID: PMC3325618  PMID: 22511840
Chiropractic manipulation; Retinal artery occlusion
25.  Regression of Advanced Gastric MALT Lymphoma after the Eradication of Helicobacter pylori 
Gut and Liver  2012;6(2):270-274.
A 66-year-old female presented with a 1-month history of dyspepsia. An initial upper gastrointestinal endoscopy with biopsy revealed a low-grade mucosa-associated lymphoid tissue (MALT) lymphoma. A rapid urease test was positive for Helicobacter pylori. Endoscopic ultrasound (EUS) and computed tomography (CT) revealed a 30×15-mm lymph node (LN) in the subcarinal area. Histopathologic and phenotypic analyses of the biopsy specimens obtained by EUS-guided fine-needle aspiration revealed a MALT lymphoma, and the patient was diagnosed with a stage 4E gastric MALT lymphoma. One year after H. pylori eradication, the lesion had disappeared, as demonstrated by endoscopy with biopsy, CT, fusion whole-body positron emission tomography, and EUS. Here, we describe a patient with gastric MALT lymphoma that metastasized to the mediastinal LN and regressed following H. pylori eradication.
PMCID: PMC3343168  PMID: 22570759
Marginal zone B-cell lymphoma; Stomach

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