International Journal of Medical Research & Health Sciences (IJMRHS)
ISSN: 2319-5886 Indexed in: ESCI (Thomson Reuters)

Abstract

EARLY OCULAR FINDINGS IN A PATIENT OF MAROTEAUX-LAMY SYNDROME

Author(s): 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.


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