ABSTRACT
We report here on a case of genetically confirmed type Ia glycogen storage disease (GSD) that was diagnosed in the military hospital. A twenty-year old soldier was admitted to the hospital with abdominal fullness. He had a past medical history of hepatomegaly that was firstly recognized at six months after birth, and he had been followed-up at an outpatient clinic with the presumptive diagnosis of type III GSD. He also had a history of growth hormone therapy because of growth retardation. However, he arbitrarily refused medical observation from 14 years of age. On the physical examination, the height of the patient was 163.1 cm and significant hepatomegaly was observed. Significantly abnormal liver-associated paramters were observed on the laboratory findings and multiple hepatic adenomas were observed on the CT exam and MRI scan. To determine the proper treatment, we tried to confirm the exact type of GSD in the patient. By mutational analysis, we found the c.648G>T homozygote splicing mutation in the G6PC gene and the patient was confirmed as having the type Ia GSD.
Subject(s)
Humans , Adenoma , Ambulatory Care Facilities , Chromosome Disorders , Glycogen , Glycogen Storage Disease , Growth Hormone , Hepatomegaly , Homozygote , Hospitals, Military , Magnetic Resonance Imaging , Military Personnel , Parturition , Physical ExaminationABSTRACT
Spontaneous renal rupture with diversion of blood into the subcapsular and/or perinephric spaces in a patient on chronic hemodialysis is a rare clinical entity. The underlying causes found by various authors were tumours, vascular diseases, inflammatory process and cysts. Rupture of renal cysts is another complication that can be life-threatening when it gives rise to subcapsular and/or perinephric hematomas. Screening has been recommended with ultrasound for hemodialysis patients of longer than 3years'duration. We are report a case of spontaneous renal rupture associated with right renal cyst in a patient receiving chronic hemodialysis.
Subject(s)
Humans , Hematoma , Mass Screening , Renal Dialysis , Rupture , Ultrasonography , Vascular DiseasesABSTRACT
Spontaneous renal rupture with diversion of blood into the subcapsular and/or perinephric spaces in a patient on chronic hemodialysis is a rare clinical entity. The underlying causes found by various authors were tumours, vascular diseases, inflammatory process and cysts. Rupture of renal cysts is another complication that can be life-threatening when it gives rise to subcapsular and/or perinephric hematomas. Screening has been recommended with ultrasound for hemodialysis patients of longer than 3years'duration. We are report a case of spontaneous renal rupture associated with right renal cyst in a patient receiving chronic hemodialysis.
Subject(s)
Humans , Hematoma , Mass Screening , Renal Dialysis , Rupture , Ultrasonography , Vascular DiseasesABSTRACT
Nowadays, the increasing use of antibiotics induces many complications including pseudomembranous colitis. Isolates of toxigenic Clostridium difficile, the most frequent cause of antibiotic-associated pseudomembranous colitis, are almost always highly susceptible to rifampicin. However, resistant isolates exist and have been associated with colitis in humans. We report a case of pseudomem- branous colitis associated with rifampicin administration.
Subject(s)
Aged , Humans , Anti-Bacterial Agents , Clostridioides difficile , Colitis , Enterocolitis, Pseudomembranous , RifampinABSTRACT
A 79-year-old woman with a known history of hypertrophic cardiomyopathy presented with severe anemia of unknown origin. She had also suffered from repeated episodes of upper gastrointestinal bleeding for the previous 2-3 years. Despite small bowel series and panendoscopic and angiographic studies, the origin of anemia remained undefined until a small multiple bleeding site was found during capsule endoscopy. The lesion proved to be angiodysplasia in jejunum. We report a case of jejunal angiodysplasia is diagnosed by capsule endoscopy in a patient with hypertrophic cardiomyopathy.
Subject(s)
Aged , Female , Humans , Anemia , Angiodysplasia , Capsule Endoscopy , Cardiomyopathy, Hypertrophic , Endoscopy , Hemorrhage , JejunumABSTRACT
Ischemic colitis is recognized as the most common vascular disorder of the intestines in the elderly. Correct diagnosis is usually made after the ischemic episide is over and ischemic colitis is frequently misdiagnosed. A case is presented in which an initial diagnosis of appendicitis was made. On operation, a tumor like mass was found in ascending colon. Pathological examination revealed ischemic colitis. We report a case of ischemic colitis in ascending colon mimicking colon cancer.
Subject(s)
Aged , Humans , Appendicitis , Colitis, Ischemic , Colon , Colon, Ascending , Colonic Neoplasms , Diagnosis , IntestinesABSTRACT
Toxoplasma lymphadenitis is the most common clinical manifestation of toxoplasmosis in an immunocompetent host. The cervical lymph nodes are the most commonly involved, whereas systemic manifestations are rare. The most common clinical presentations are asymptomatic or subclinical, with fever, maculopapular rash, and general malaise. In immunocompromised patients, the presentations may be devastating with disseminated disease resulting in encephalitis, myocarditis, and pneumonia. We are reporting a case of toxoplasma lymphadenitis in an immunocompetent host diagnosed by histologic and serologic evaluation.
Subject(s)
Encephalitis , Exanthema , Fever , Immunocompromised Host , Lymph Nodes , Lymphadenitis , Myocarditis , Pneumonia , Toxoplasma , ToxoplasmosisABSTRACT
The major causes of small bowel obstruction are postoperative adhesion, hernia, intussusception and malignancies. However, in cases of uncommon causes of small bowel obstruction, surgeons are in a dilemma because the preoperative diagnosis and making a decision to operate are frequently difficult and delayed. Phytobezoars are unusual cause of small bowel obstruction. They are mostly due to ingestion of stringent immature fruits following gastric surgery. They are usually formed in stomach and do not migrate to the other intestinal tract, but can lead to the serious complication of acute small bowel obstruction. We are reporting a case of acute small bowel obstruction due to phytobezoar about 2x2x3 cm3 size in a 90 year old female.
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Bezoars , Diagnosis , Eating , Fruit , Hernia , Intestinal Obstruction , Intussusception , StomachABSTRACT
Bronchioloalveolar carcinoma may present with a variety of clinical and radiographic findings. It is originated from the periphery of the lung and can be mistaken for lobar pneumonia or atypical pneumonia. The most frequent symptoms and signs are cough, sputum, shortness of breath, weight loss, hemoptysis, and fever. Brochorrhea is unusual and a late manifestation. We conclude that early diagnosis of disease will increase operability and improve chances of survival and that aggressive diagnostic workup for suspicious pulmonary infiltrate is essential as early operation offers the best chances of cure.We report two cases of brochioloalveolar carcinoma presenting as proper clinical and radiological findings.
Subject(s)
Adenocarcinoma, Bronchiolo-Alveolar , Cough , Dyspnea , Early Diagnosis , Fever , Hemoptysis , Lung , Pneumonia , Sputum , Weight LossABSTRACT
Polymyositis is uncommon connective tissue disease of autoimmune etiology in which the skeletal muscle is damaged by a inflammatory process dominated by lymphocytic infiltration. Polymyositis has been associated with several viral infections, and a spectrum of immune-related diseases may occur with hepatitis C virus(HCV) infection. However, no association between polymyositis and HCV infection has been reported previously. We report a case of polymyositis combined with liver cirrhosis who had evidence of HCV infection.
Subject(s)
Connective Tissue Diseases , Hepatitis C , Liver Cirrhosis , Liver , Muscle, Skeletal , PolymyositisABSTRACT
Metformin is a biguanide oral hypoglycemic agent commonly used in the treatment of diabetes mellitus. Metfofmin is excreated largely by the kidney and binds only negligibly to plasma proteins. Toxicity is usually seen when metformin is prescribed to patients with renal insufficiency. Lactic acidosis in diabetics on metformin therapy is rare but still associated with poor prognosis. For an early diagnosis, clinical symptoms of intoxication should be well known by physicians and patients. First-line therapy for correction of lactic acidosis and effective elimination of metformin is bicarbonate hemodialysis. We report a case of acute renal failure due to metformin-associated lactic acidosis in elderly type 2 diabetes mellitus patient and she was successfully treated by hemodialysis with bicarbonate buffer.
Subject(s)
Aged , Humans , Acidosis, Lactic , Acute Kidney Injury , Blood Proteins , Diabetes Mellitus , Diabetes Mellitus, Type 2 , Early Diagnosis , Kidney , Metformin , Prognosis , Renal Dialysis , Renal InsufficiencyABSTRACT
Sick sinus syndrome comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Though sudden cardiac death accounts for as much as 15% of all cause mortality in uremia, requiring permanent cardiac pacing in end-stage renal disease hemodialysed patients are very few. Most cases of sick sinus syndrome are idiopathic, and the cause can be multifac- torial. A-V conducton defects were attributed to extensive metastatic calcifications, involving the cardiac skeleton, conservative to severe hyperparathyroidism and inadvertent use of calcitriol and calcium carbonate as phosphate binders. If optimal hemodialysis is provided, benefits of permanent pacing are equal in uremic or non uremic patients and pacemaker implantation should be instituted. We report a case of sick sinus syndrome derived in elderly patient on hemodialysis.
Subject(s)
Aged , Humans , Calcitriol , Calcium Carbonate , Death, Sudden, Cardiac , Hyperparathyroidism , Kidney Failure, Chronic , Mortality , Renal Dialysis , Sick Sinus Syndrome , Skeleton , UremiaABSTRACT
Localized fibrous tumor of the pleura is rare, slowly growing, benign tumor. Most of these tumors clinically behave asymptomatically, although tumor-associated hypoglycemia occurs in a few cases and lead to hypoglycemic coma. Laboratory investigations show elevation of IGF-II with a 2-3 times higher effect on the blood glucose level than insulin. Surgical resection of the tumor is recommended. We report on the case of a 81-year-old man, who complained of hypoglycemic episodes. Diagnostic evaluation showed a fibrous tumor of pleura attached to the right diaphragm.
Subject(s)
Aged, 80 and over , Humans , Blood Glucose , Coma , Diaphragm , Hypoglycemia , Insulin , Insulin-Like Growth Factor II , PleuraABSTRACT
Paroxymal ventricular tachycardia occurs most frequently during the first several months following myocardial infarction, although the risk of arrhythmia development continues for many years. Underlying disease was coronary artery disease, dilated or hypertrophic cardiomyopathy, valvular heart disease, myocarditis, and idiopathic. Idiopathic ventricular tachycardia may be the most common type in Korea and usually originates from either right ventricular outflow tract or left ventricular septum. For the emergency treatment of sustained, hemodynamically stable ventricular tachycardia, antiarrhythmic drugs are the therapy of choice(choice of therapy). Mostly class I antiarrhythmic drugs, such as lidocaine, are preferred. In hemodynamically unstable ventricular tachycardia, electrical defibrillation should be applied, in case of recurrences, followed by pharmacological treatment with class I antiarrhythmic drugs or amiodarone. We report a case of paroxymal ventricular tachycardia improved due to(by) electrical defibrillation was done repeaedly in patient with cerebral infarction.