1/25. 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 = disc (Clic here for more details about this article) |
2/25. ochronosis: an unusual finding at aortic valve replacement.The condition known as ochronosis refers to the accumulation of oxidized homogentisic acid in the connective tissues of alkaptonuric patients. The diagnosis is usually made from the triad of degenerative arthritis, ochronotic connective tissue pigmentation and urine that turns dark brown or black on alkalinization. Cardiovascular disease is a less well appreciated aspect of this disorder. A patient with ochronosis of his stenotic aortic valve is reported. The role of the pigment in the genesis of the valve degeneration is discussed.- - - - - - - - - - ranking = 0.37222913357168keywords = disc, degeneration (Clic here for more details about this article) |
3/25. alkaptonuria with lumbar disc herniation: a report of two cases.STUDY DESIGN: Two cases of lumbar disc herniation with alkaptonuria are presented. OBJECTIVES: To present a probable clinical course of lumbar disc herniation with alkaptonuria, a rare metabolic disease. SUMMARY OF BACKGROUND DATA: Although lumbar disc disease is a common clinical occurrence in alkaptonuria, lumbar disc surgery is needed rarely in this disease. A patient with alkaptonuria without ochronotic signs is also rarely seen. methods: The cause, clinical presentation, diagnostic techniques and treatment of alkaptonuria with lumbar disc disease are reviewed. RESULTS: The symptoms of the patients disappeared after surgery, and there were no symptoms on follow-up. CONCLUSION: alkaptonuria frequently occurs in association with lumbar disc disease. In patients with no other signs of alkaptonuria or ochronosis, early detection of the disease is important to treat involvement of other systems (e.g., cardiovascular and urinary).- - - - - - - - - - ranking = 3.3333333333333keywords = disc (Clic here for more details about this article) |
4/25. Alkaptonuric ochronosis presenting as palmoplantar pigmentation.We describe a 37-year-old woman who presented with palmoplantar pigmentation, thickening and pitting of 4 years duration. Bluish pigmented patches were seen over the sclera of her eyes. Her lumbar spine showed typical calcification of the intervertebral discs. Addition of Benedict's reagent to a urine sample of the patient gave rise to greenish brown precipitate and brownish black supernatant. Alkalinization of urine turned it black. A biopsy of the palmar lesion demonstrated irregular breaking up, swelling and homogenization of collagen bundles in the reticular dermis. Yellow-brown (ochre coloured) pigment was seen lying within the collagen bundles and also freely in the deeper dermis confirming our clinical diagnosis of alkaptonuric ochronosis. To the best of our knowledge this is probably the second report of alkaptonuria presenting with palmoplantar pigmentation.- - - - - - - - - - ranking = 90.269680932874keywords = intervertebral disc, intervertebral, disc (Clic here for more details about this article) |
5/25. Ochronotic arthropathy.Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with various clinical and radiologic abnormalities due to the deposition of homogentisic acid. We report on a 35-year-old man with ochronotic arthropathy who presented with the main characteristic radiological findings. The differential diagnosis of this rare condition is discussed with a review of the literature.- - - - - - - - - - ranking = 0.33333333333333keywords = disc (Clic here for more details about this article) |
6/25. ochronosis: a case of severe ochronotic arthropathy.ochronosis involves primarily the large cartilaginous joint surfaces, ribs, intervertebral discs, ear cartilage etc. We report on a 53-year-old woman with typical alkaptonuric ochronosis with dark urine, blue-black pigmentation of the auriculae and hands, focal brown hyperpigmentation of the sclera, spondylarthropathy and severe shoulder joint involvement.- - - - - - - - - - ranking = 90.269680932874keywords = intervertebral disc, intervertebral, disc (Clic here for more details about this article) |
7/25. alkaptonuria and lumbar disc herniation. Report of three cases.alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. alkaptonuria was diagnosed after discectomy. Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The symptoms in the three patients disappeared after surgery and no symptoms were demonstrated on follow-up examination.- - - - - - - - - - ranking = 3keywords = disc (Clic here for more details about this article) |
8/25. Multiple vacuum discs, and early sign of ochronosis. Radiologic findings in two brothers.Two brothers with ochronosis are reported and the radiological features of ochronotic vertebral disease are reviewed. A striking feature was the presence of multiple vacuum discs. This "vacuum phenomenon" constitutes one of the earliest radiologic changes in the spine and presumably represents areas of severe degeneration within the intervertebral discs. Other features included a dark pigmentation of the urine after standing or following the addition of sodium hydroxide, and calcification within the cartilages of the ears and intervertebral discs. There was no abnormality of the peripheral joints and pigmentary deposits in the ears, sclerae, or skin were not observed.- - - - - - - - - - ranking = 182.24492433265keywords = intervertebral disc, intervertebral, disc, degeneration (Clic here for more details about this article) |
9/25. Spontaneous tendon ruptures in alkaptonuria.ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alkaptonuria.- - - - - - - - - - ranking = 0.038895800238342keywords = degeneration (Clic here for more details about this article) |
10/25. A case of alcaptonuria with fatal cardiovascular disturbance.A case of alcaptonuria combined with aortic insufficiency was found in a 28-year-old male. The patient was palpitating at admission. The daily excretion of homogentisic acid was 2.0-6.0 g. electrocardiography indicated atrial fibrillation and left ventricular hypertrophy with a ST-T change and right axis deviation. Cartilage tissues in the knee-joints showed no pigmentation. Vertebral X-ray revealed no calcification. The patient's history disclosed a family intermarriage in his grandparents. The patient's mother noticed the presence of black stains on diapers in his infancy and brown pigmentation on the skin and sclera in childhood. No kin had similar symptoms.- - - - - - - - - - ranking = 0.33333333333333keywords = disc (Clic here for more details about this article) |
| | Next -> |