Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI) Clinical Presentation

Updated: Mar 20, 2017
  • Author: Paul R Harmatz, MD; Chief Editor: Maria Descartes, MD  more...
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Presentation

History

Individuals with mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, usually have a period of normal growth and development but later present when frequent respiratory infections or otitis media, inguinal or umbilical hernias, hepatosplenomegaly, coarse facial features, dysostosis multiplex, joint or spine abnormalities, and corneal clouding become evident.

Because MPS VI is a recessive disorder, no family history is usually present.

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Physical

Facial features associated with MPS VI include the following:

  • Coarse facial features (Compare the facial features with those of other family members to best appreciate the coarsening.)

  • Macrocephaly

  • Enlarged tongue

  • Prominent forehead

  • Possible coarse texture of hair

Hepatomegaly and splenomegaly are often present in patients with MPS VI.

Umbilical and inguinal hernias are common.

Growth may be normal for several years and may then stop, resulting in a final stature of 90-140 cm. A short trunk with lumbar lordosis is typically present.

Corneal opacities can be detected with slitlamp examination.

Restricted joint movement, including claw-hand deformities, appears in the first few years of life.

Examination of the skin frequently reveals hirsutism.

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Causes

MPS VI results from the deficiency of N- acetylgalactosamine 4-sulfatase (arylsulfatase B) and the lysosomal accumulation of dermatan sulfate.

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