Scintigraphic features of Morquio's syndrome: a case report
© Kitzing and Allman; licensee BioMed Central Ltd. 2011
Received: 26 January 2010
Accepted: 28 January 2011
Published: 28 January 2011
To the best of our knowledge, we present for the first time the bone scintigraphy findings of a patient with Morquio's syndrome.
A 46-year-old Caucasian man with Morquio's syndrome presented with lower back pain six weeks after a left total hip replacement. A whole body bone scan demonstrated an anthropomorphic skeletal pattern consistent with a mucopolysaccharide storage disease, thereby showing the cause of the patient's pain.
To the best of our knowledge, the bone scintigraphy findings of a case of Morquio's syndrome have never before been published. We present our case report to add to the knowledge we have of this rare disease.
Morquio's syndrome is an autosomal recessive mucopolysaccharide storage disease which is characterized by the inability to metabolize keratin sulphate. It was first described in 1929 by Luis Morquio in Montevideo, Uruguay . He observed the disorder in four siblings in a family of Swedish extraction and recognized the occurrence of corneal clouding, aortic valve disease and the urinary excretion of keratan sulfate. The symptoms associated with Morquio's syndrome are usually noticed between one to three years of age and can include abnormal heart development, abnormal skeletal development, hyper-mobile joints, large fingers, knock-knees, widely spaced teeth, a bell-shaped chest, compression of the spinal cord, an enlarged heart and dwarfism [2–4]. The syndrome is estimated to occur in one in every 200,000 births, with a family history of the syndrome raising one's risk of developing the condition.
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
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