1/6. Alkaptonuric aortic stenosis: a case report.alkaptonuria is a rare disease of phenylalanine, aromatic amino acids, and tyrosine metabolism. Because of a genetic deficiency of the enzyme homogentisic acid oxidase, an accumulation of homogentisic acid causes ochronotic pigment deposition. The most common clinical manifestations are arthropathy, urinary calculi and discoloration, cutaneous and cartilaginous pigmentation, and cardiac valvular disease. Arthropathy and aortic stenosis are the most debilitating manifestations of the disease. A case of alkaptonuric aortic stenosis is described. A 75-year-old woman with a history of alkaptonuria presented in the emergency department with complaints of progressive dyspnea. Upon examination, the patient was hypertensive, tachypneic, and tachycardic with premature ventricular contractions. She had pitting edema of the lower extremities and complaints of generalized weakness. Chest x-rays revealed congestive heart failure and pulmonary edema. diuretics were administered, and a continuous nitroglycerin infusion was initiated in the emergency department. The patient was admitted for further evaluation. The patient's respiratory status continued to decline. She was intubated endotracheally 1 day after admission. Subsequent cardiac evaluation revealed an ejection fraction of 35%, severe aortic stenosis, mild coronary artery disease, ischemic cardiomyopathy, and anteroapical akinesis. A dobutamine infusion was instituted for persistent hypotension, and renal dose dopamine was initiated for oliguric renal failure. The patient underwent an emergency operation for an aortic valve replacement with a Dacron patch 10 days after admission. cardiopulmonary bypass and mild hypothermia were used during the procedure. The patient's hemodynamic status remained tenuous throughout the procedure. Although the first attempt to wean off cardiopulmonary bypass failed, the second attempt was successful with the aid of an intra-aortic balloon pump, inotropic support, and atrioventricular pacing. These measures were maintained during transport to the surgical intensive care unit. In the intensive care unit, the patient did not have an audible blood pressure or a palpable pulse without the support of the intra-aortic balloon pump and atrioventricular pacing. Coarse atrial fibrillation was the underlying electrocardiogram rhythm in the absence of atrioventricular pacing. sodium bicarbonate was given without improvement. After discussion with the family, all life support measures were discontinued. The patient died 10 minutes after her arrival in the intensive care unit. alkaptonuria's pathogenesis is manifested as both local and systemic in nature. collagen vascular diseases share a similar pattern of multisystem involvement. Despite the negative outcome for the patient described, valuable insight can be obtained by studying this case and noting the anesthetic considerations specific to collagen vascular diseases in general.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. Thrombotic thrombocytopenic purpura presenting as bilateral flank pain and hematuria: a case report.Thrombotic thrombocytopenic purpura (TTP) is a rare disease whose incidence is now increasing. We present a case of a 37-year-old man who presented with bilateral flank pain and hematuria, subsequently diagnosed with TTP. Thrombotic thrombocytopenic purpura has classically been characterized by the pentad of fever, microangiopathic hemolytic anemia, neurologic symptoms, renal dysfunction, and thrombocytopenia. The pathogenesis of the disease has been a mystery until recently. We review the current literature regarding the pathophysiology and management of this disorder. Our discussion focuses on the importance of understanding this disease while considering the differential diagnosis of a patient presenting with anemia and thrombocytopenia because the common pitfall of rapidly administering platelets to a patient with TTP may lead to a disastrous outcome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/6. calciphylaxis: case report and literature review.Tissue calcification is a well-recognized common metabolic disease, but calciphylaxis still remains an enigmatic rarity. The latter may be induced experimentally and acquired naturally in human diseases. Although many chronic azotemic or end stage renal disease patients (ESRD) with hyperparathyroidism (HPT) are at risk of calciphylaxis not all of them do develop the disease, even non-renal, patients may also develop this disease. Out of a total of about 2000 hemodialysis, 15,000 dermatology and 26,000 medical patients seen over a three year period in a busy Saudi Arabian tertiary medical centre, we report a sentinel nephrology patient with sudden excruciatingly painful cutaneous calciphylaxis that necessitated acute dermatology emergency consultation, and present a review of the medical literature. In order to institute appropriate total quality management of this life-threatening, rare disease, it is advisable that a high index of suspicion should be entertained by dermatologists, general physicians, nephrologists, and pulmonologists in an appropriate clinical scenario.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/6. Right ventricular myocardial infarction and late cardiac tamponade due to right coronary artery aneurysm--a case report.Coronary artery aneurysm is a relatively rare disease, which may cause angina, myocardial infarction, or sudden unexpected death due to thrombosis, embolization or rupture. This report describes a case of a 46 year old male who suffered an inferior myocardial infarction with right ventricular involvement, third degree atrioventricular block, cardiogenic shock and late cardiac tamponade, all caused by a right coronary artery aneurysm. He was successfully treated with emergency coronary artery bypass grafting. A review of the literature is also given to emphasize the importance of prompt recognition and correct management of the coronary artery aneurysm.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/6. Fournier's gangrene of the penis: a report of two cases.Fournier's gangrene is a rare disease involving the scrotum and penis with occasional extension up the abdominal wall. Both of our cases were unusual in that only the penis was involved. In addition, the occurrence of squamous cell carcinoma in an area previously affected by Fournier's gangrene has never been reported. The usual organism is an anaerobic streptococcus synergistic with some second organism. Early therapy is key, including debridement of the entire shaft of the penis distal to the devastated area, intravenous broad-spectrum antibiotics, and skin grafting.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/6. Extraordinary case report: cutaneous anthrax.anthrax is a very rare disease in the United Kingdom. It is caused by the spore-forming bacterium bacillus anthracis. humans become infected when they come into contact with infected animals or their products. Cutaneous anthrax, the most common form of the disease, accounts for 95% of cases, and the disease usually developing on exposed sites. We present a patient who developed cutaneous disease after exposure to untreated leather. Owing to the initial clinical information, the biopsy specimen was misinterpreted as representing a severe acute insect bite reaction. The subsequent involvement by the Department of microbiology established the correct diagnosis. Because today the disease is so rare in europe and the united states, sporadic cases of anthrax are easily overlooked as the diagnosis often is not considered. Cutaneous anthrax should be considered in any patient with a painless ulcer with vesicles, edema, and a history of exposure to animals or animal products.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |