Abstract
Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.
Highlights
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an, X linked recessive, inborn error of metabolism
The primary defect is a mutation of the IDS gene which causes a deficiency in the activity of the lysosomal enzyme iduronate-2-sulfatase (I2S).[2]. This leads to the accumulation of glycosaminoglycans in the tissues, leading to multiorgan dysfunction
We present a case of mucopolysaccharidosis type II with cutaneous features and radiological changes
Summary
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an, X linked recessive, inborn error of metabolism. The clinical features of this disease manifest between the ages of two and four years. Airway obstruction and heart failure due to valve dysfunction are the most common causes of death, with an average life expectancy of 15 years.[3] We present a case of mucopolysaccharidosis type II with cutaneous features and radiological changes.
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