17 year old boy with short stature. --------------------------------------- Skiagram of D/L Spine showing Kyphosis. Central tongue like projection in anterior aspect of lower Dorsal & upper Lumber vertebra is suggestive of - MORQUIO-BRAILSFORD SYNDROME (Spondylo-epiphyseal displasia) - Hurler hunter syndrome. Morquio-Brailsford syndrome ================== Alternative eponyms ----------------------- Brailsford syndrome or disease Brailsford-Morquio dystrophy syndrome Dale’s syndrome Morquio’s syndrome or disease Morquio-Brailsford disease Morquio-Ullrich syndrome or disease Bársony-Polgár syndrome 1 A storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. Description ------------ An uncommon storage disease characterised by a skeletal dysplasia in which short trunk dwarfism (growth stops at 6 years of age) is associated with spinal malalignment, hepatomegaly, aortic incompetence, peculiar facies, corneal clouding, and deafness. The combined abnormalities usually result in a duck-waddling gait. Mental development is usually normal but progressive intellectual deterioration was reported in type B. Expected life-span is unimpaired. There is a slight predilection for the male. Death usually takes place in the twenties due to aortic valve diseases. Its incidence is 1: 40.000. It is an inborn error of metabolism characterized by faulty degradation of keratan sulfate with deposits in tissues of glycosaminoglycans due to N-acetylgalactosamine-6-sulfatase deficiency. Keratin sulphate is excreted in large amounts in urine Occurs in two forms depending on which gene is mutated:. A: with a deficiency of the enzyme galactosamine-6-sulphate sulphatase; B: with a deficiency of the enzyme B-galactosidase. Inheritance is autosomal recessive; familial influences are common. In 1929 Morquio described a form of familial skeletal dystrophy in the French literature. The consanguineous affected family were of Swedish stock and four out of five children had the disorder. The same year Brailsford gave an account of the clinical and radiological features of a child with «chondro-osteo-dystrophy». Symptoms ------------ Abnormal development of bones, including the spine Bell-shaped chest with ribs flared out at the bottom Coarse facial features Hypermobile joints Knock-knees Large head (macrocephaly) Short stature with a particularly short trunk Widely spaced teeth Treatment ------------ There is no specific treatment for Morquio syndrome. Researchers are currently testing a possible treatment involving enzyme replacement. Symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in persons whose neck bones are underdeveloped. Possible Complications -------------------------- Breathing problems Heart failure Spinal cord damage and possible paralysis Vision problems Walking problems related to abnormal curvature of the spine and other bone problems
Posted on: Fri, 21 Mar 2014 09:18:25 +0000
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