منابع مشابه
Ortner's syndrome: a radiological diagnosis.
Ortner's Syndrome is a rare clinical entity, first described in 1897.1 It describes left recurrent laryngeal nerve palsy resulting from identifiable cardiovascular disease. For this reason it is also known as cardiovocal syndrome.2 The various underlying conditions includes mitral stenosis, septal defect, mitral valve prolapse and aortic aneurysm.3 4'5 We present a case of left vocal cord paral...
متن کاملOvercoming the barriers to diagnosis of Morquio A syndrome
BACKGROUND Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications. METHODS Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio...
متن کاملThe Diagnosis of Morquio Disease Correlating the Clinical, Radiological and Biochemical Findings: A Case Series
InTRoDuCTIon Mucopolysaccharidoses (MPS) are a group of inherited storage diseases which are caused due to the deficiency of lysosomal enzymes which are needed to degrade glycosaminoglycans (GAGs). GAGs are the polymers of a disaccharide unit which are composed generally of uronic acid and sulphated amino or N-acetylated monosacchrides. GAGs are linked to proteins to form proteoglycans, which a...
متن کاملMucopolysaccharidosis type IV (Morquio syndrome).
Fig. 4 : Photomicrograph of general blood picture showing inclusion bodies in lymphocyte (Gasser cell). A 5-year-old boy was brought to our medical OPD with severe chest deformity and growth retardation. He had six siblings of which two more had similar illness in a 21-year-old sister and 1-year-old brother (Fig. 1). His parents and grand parents had no such illnesses. Clinical examination reve...
متن کاملDiagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay
BACKGROUND Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-sulfate in tissues and secondary organ damage. Recently approved enzyme replacement therapy renders the easy and early identificati...
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ژورنال
عنوان ژورنال: CHRISMED Journal of Health and Research
سال: 2015
ISSN: 2348-3334
DOI: 10.4103/2348-3334.165748