Authors: Haldipurkar Tanvi S, Misra Somen
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