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Early ocular findings in a patient of maroteaux-lamy syndrome

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Int J Med Res Health Sci. |

Authors: Haldipurkar Tanvi S, Misra Somen
Int J Med Res Health Sci.2014;3(1):216-219 |  DOI:10.5958/j.2319-5886.3.1.047

ABSTRACT

The Maroteaux-Lamy disease or mucopolysaccharidosis type VI is an inherited severe metabolic disorder which is very rare. It is caused by a deficiency of the enzyme Arylsulfatase B and characterized by a heterogeneous clinical, radiological and genetic presentation. We report a case of Maroteaux-Lamy syndrome in a child aged 9 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, prominent ophthalmological signs, hepatomegaly and normal intelligence.

Keywords: Maroteaux- Lamy, cloudy cornea, retinopathy

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