Mucopolysaccharidosis: type I (Hurler syndrome)

Case contributed by Jatin K.

Patient Data

Age: 18 month
Modality: X-ray

A series of cranial, chest and musculoskeletal radiographic images for a young patient with mucopolysaccharidosis (MPS) type 1, also known as Hurler syndrome. The series demonstrates some of the key radiographic findings seen in the condition including: 

  • macrocephaly
  • pointing of proximal metacarpals
  • shortening and widening of long bones
  • widening of anterior ribs (oar shaped / paddle ribs)
  • anterior inferior vertebral body beaking 

Case Discussion

Hurler syndrome is one of the mucopolysaccharidosis (MPS type IH) and carries an autosomal recessive inheritance. It is clinically characterised by mental retardation, corneal clouding, deafness and cardiac disease, with death resulting in first decade of life, often from cardiac disease.

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Case Information

rID: 24387
Case created: 11th Aug 2013
Last edited: 2nd Jun 2016
Inclusion in quiz mode: Included

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