EARLY OCULAR FINDINGS IN A PATIENT OF MAROTEAUX-LAMY SYNDROME
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2014, Vol 3, Issue 1
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.
Authors and Affiliations
Haldipurkar Tanvi S| Post graduate student, Department of Ophthalmology, Pravara Institute of Medical Sciences, Loni, Maharashtra, India, Corresponding author email: tanuh8@gmail.com, Misra Somen| Professor, Department of Ophthalmology, Pravara Institute of Medical Sciences, Loni, Maharashtra, India
Keywords
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