Fundoscopic Changes in Maroteaux-Lamy Syndrome

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منابع مشابه

Prenatal diagnosis of Maroteaux-Lamy syndrome.

Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was co...

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Valvular heart disease in four patients with Maroteaux-Lamy syndrome.

BACKGROUND Maroteaux-Lamy syndrome is a lysosomal storage disease of mucopolysaccharide metabolism (MPS type VI) that may involve the mitral and aortic valves. Affected patients have other skeletal and oropharyngeal malformations that complicate anesthetic and surgical management. METHODS AND RESULTS The present report describes the clinical, echocardiographic, and pathological findings in fo...

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Deep anterior lamellar keratoplasty for Maroteaux-Lamy syndrome.

PURPOSE To present a case of Maroteaux-Lamy syndrome (MLS), which underwent deep anterior lamellar keratoplasty (DALK) for visual rehabilitation. METHODS A 15-year-old girl with MLS was admitted with severe corneal opacity. We performed DALK on her left eye for visual rehabilitation. Big-bubble technique was used to perform lamellar separation. RESULTS Corneal graft was clear 24 months afte...

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Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux-Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgit...

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Anesthesia in a child with Maroteaux-Lamy syndrome undergoing mitral valve replacement

Mucopolysaccharidoses (MPSs) are a group of metabolic diseases transmitted in an autosomal recessive fashion. MPSs are due to deficiencies of the specific enzymes responsible for the catabolism of dermatan sulfate, heparin sulfate, and keratan sulfate, resulting in the accumulation of glycosaminoglycans (GAGs). MPSs have a chronic, progressive course with multisystemic involvement. The incidenc...

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ژورنال

عنوان ژورنال: Case Reports in Ophthalmological Medicine

سال: 2019

ISSN: 2090-6722,2090-6730

DOI: 10.1155/2019/4692859