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A 50-year-old man presented with a complaint of low-back pain and widespread joint pain for the previous 20 years. Conventional radiography revealed wide areas of calcification in the intervertebral discs and degenerative changes in the peripheral joints. A diagnosis of ochronosis was made by the
We have examined the presentation of low back pain in three patients with ochronosis, and have reviewed the literature. Low back pain and/or stiffness is the first presenting feature and usually appears after the age of 30. Discolouration of the ear is almost always present. Characteristic
A 34-year-old man had progressive, poorly controlled low back pain for 3 years before testing confirmed a diagnosis of ochronosis. This is the first case description of the magnetic resonance imaging (MRI) appearance of spinal ochronosis, which should be considered when advanced degenerative change
Alkaptonuria is a rare hereditary metabolic disorder characterised by absence of the enzyme homogentisic acid oxidase. As a result of this defect homogentisic acid accumulates and is excreted in the urine. The term ochronosis is used to describe bluish-black pigmentation of connective tissue.
BACKGROUND
Alkaptonuria is a very rare inborn error of amino acid metabolism due to deficient homogentisic acid (HGA) oxidase enzyme leading to accumulation of HGA in plasma, cartilage, other tissues of human body and its excretion in urine. It has both systemic and peripheral signs and symptoms.
Ochronosis or alkaptonuria is a rare inherited disease. It is characterized by the deposition of dark pigments in collagen-rich tissues, which leads to clinical manifestations such as arthropathy. The ochronotic pigment can be found in the sclera, the conjunctiva, and the limbic cornea. Vision is
A thirty-nine-year-old man presented with a complaint of low back pain with a history of 20 years. Cervical and thoracolumbar radiographs showed wide calcification areas and ankylosis in the intervertebral discs. Observation of blue-gray pigmentation around his nose and ears suggested a diagnosis of
This study aims to investigate features of different diseases with low back pain misdiagnosed as spondyloarthropathy so as to improve the accuracy of diagnosis for spondyloarthropathy. The clinical and laboratory data of 24 cases misdiagnosed as spondyloarthropathy in recent 3 years were
BACKGROUND Alkaptonuria (AKU) is a rare metabolic disease caused by a deficiency in homogentisic acid oxidase, which leads to the accumulation of homogentisic acid dark pigments in tissues such as bones, ligaments, and tendons. Long-term duration of this condition, termed ochronosis, can result in
Ochronosis is a rare genetic metabolic disorder resulting from a constitutional lack of homogentisic acid oxidase and subsequent accumulation of its substrate causing destruction of connective tissues with various systemic abnormalities. Typical musculoskeletal symptoms are arthropathy and low back
Alkaptonuria, with its sequel, ochronosis, is a rare disease, with an incidence of 1:125,000 to 1:1 million worldwide. Reported cases of ochronotic arthropathy and other orthopedic manifestations are mostly limited to a single family tree, and few cases have been reported. This study highlights 9
A patient with low back pain due to ochronosis, a rare inherited metabolic disease, is described. The clinical picture of this disorder is exposed. Highlighted are the signs of recognition: early degenerative changes of, especially lumbar, intervertebral discs with linear calcifications and vacuum
OBJECTIVE
To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition.
METHODS
We reviewed the