Wilson's disease presenting as acute fulminant hepatic failure

A fatal case of fulminant hepatic failure in an adolescent is described. Post-mortem examination revealed the cause to be Wilson's Disease. This rare presentation is characterised by apparently atypical changes in copper metabolism. Wilson's Disease should be a differential diagnosis of any adolescent presenting in liver failure.     

Anaplastic T-cell lymphoma presenting as fatal acute liver failure

Acute liver failure (ALF) is an uncommon manifestation of liver disease and constitutes a medical emergency for which early identification is necessary. Hepatic involvement by hematologic malignancies although frequent, rarely causes severe hepatic dysfunction. Even more, acute hepatic failure as the first manifestation of a hematologic malignancy is extremely uncommon, although some cases have been reported in the literature. We describe the case of a 61 y/o puertorrican veteran who developed acute hepatic failure secondary to massive infiltration of the liver by a recurrent non-Hodgkin's lymphoma.     

暴发性肝衰竭动物模型制备现状

建立合适的暴发性肝衰竭动物模型对研究该病的发病机制及寻找有效的治疗方法至关重要.此文从理想的暴发性肝衰竭动物模型的标准人手,就目前暴发性肝衰竭动物模型常用的造模方法、损伤机制和优缺点进行了综述.     

Diabetic ketoacidosis presenting as acute abdomen

Three patients, two women aged 21 and 67 and a man aged 43 years, presented at the emergency department with diabetic ketoacidosis and abdominal symptoms mimicking an acute abdominal condition. In two of them laparotomy was performed which proved to be negative. Abdominal symptoms resolved after correction of metabolic, fluid and electrolyte disturbances. Symptoms indicating a possible diagnosis of acute abdomen have to be regarded as being compatible with diabetic ketoacidosis per se. However, a potential acute abdominal problem prompting surgical intervention should not be overlooked; it may have been the precipitating factor for diabetic ketoacidosis.     

Juvenile haemochromatosis presenting as intractable congestive heart failure

Juvenile haemochromatosis is an autosomal, recessive inherited iron metabolism disorder. The rapid deterioration and malignant prognosis differentiate juvenile haemochromatosis from hereditary haemochromatosis. The authors summarize the history of a 25 year old man, who worked in Hungary as a guest worker living in Romania. No significant illness has occurred in his previous history. The abdominal pain was his first symptom and he was treated in different institutions, where cholecystitis, alcoholic hepatic disease, hepatic cirrhosis were considered as a cause of his symptoms. Some weeks later atrial tachycardia, and congestive heart failure were observed and he was sent to our Cardiology Department. The echocardiography revealed diffuse hypokinesis, serious systolic dysfunction (ejection fraction: 21%), grade II mitral and tricuspid insufficiency with pulmonary hypertension. Considering the rapid deterioration of his cardiac function, myocarditis was suspected. Myocardial biopsy and coronary arteriography were performed. Coronary arteries were normal. Ventricular fibrillation occurred during coronary arteriography. Myocardial biopsy revealed juvenile haemochromatosis. Special laboratory examinations (transferrin saturation) were made after biopsy, that also confirmed the diagnosis of juvenile haemochromatosis. Cardiac transplantation was planned. Some days after the diagnosis was made the patient died of cardiogenic shock and intractable heart failure. Autopsy revealed hypogonadism and serious haemochromatosis in different parenchymal organs. Juvenile haemochromatosis should be considered in every young patient with congestive heart failure of unknown etiology.     

Tunneled right atrial catheter infection presenting as renal failure

We report two cases of progressive renal failure secondary to membranoproliferative glomerulonephritis associated with subclinical septicemia from a tunneled right atrial catheter used for home parenteral nutrition administration. Although the occurrence of line infection and septicemia is a common complication of central venous catheters, a review of the literature reveals only one case report of renal failure secondary to an infected implanted central venous device. Both patients presented with azotemia and had biopsy-proven membranoproliferative glomerulonephritis, accompanied by leukocytoclastic vasculitis. In both cases, removal of the right atrial catheter and prolonged antibiotic therapy was effective in resolving the ongoing infection and resulted in marked improvement in renal function. A high index of suspicion for catheter sepsis should be maintained in patients with tunneled right atrial catheters presenting with subacute renal failure.     

Hashimoto's encephalopathy presenting as an acute medical emergency

Three cases are described of a reversible encephalopathy, all presenting with marked neurological disturbance. In all three, the diagnosis was not clear at the time of presentation but eventually it was felt all of the cases were consistent with Hashimoto's encephalopathy. The diagnosis of Hashimoto's encephalopathy should be considered in any case of unexplained encephalopathy. Common features are high anti-thyroid peroxidase antibody titres, an abnormal EEG and an elevated CSF protein concentration. The encephalopathy is independent of thyroid hormonal status. Treatment with corticosteroids leads to a prompt resolution of symptoms and long-term low dose steroid therapy prevents further neurological recurrence.