Mucopolysaccharidosis type VI - Maroteaux Lamy syndrome

Case contributed by Dr Giacomo Bertacchi

Presentation

Patient with coarse facial features, cardiac murmure, gibbus and dental decay.

Patient Data

Age: 3
Gender: Male

Bullet-shaped metacarpal bones and phalanges.

Slanting/ convergent distal radius and ulna. Osteopenic appearance of the wrist and hand bones with diffusely coarse trabecular bone.

Case Discussion

Leucocyte enzyme assay identified the MPS type as 6 - Maroteaux-Lamy syndrome.

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Case information

rID: 26026
Case created: 23rd Nov 2013
Last edited: 5th Mar 2016
Inclusion in quiz mode: Included

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