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Morquio syndrome: diagnosis in an adult

Catherine Prat1, Olivia Lemaire, Johan Bret

  • 1Rheumatology Department, Purpan Teaching Hospital, Toulouse, France.

Joint Bone Spine
|May 6, 2008
PubMed

Insights

Morquio syndrome (MPS) type IVA, a rare genetic disorder, can present with mild symptoms leading to late adult diagnosis. This case highlights the importance of recognizing attenuated phenotypes for timely intervention.

Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Morquio syndrome (MPS) type IV is an autosomal recessive lysosomal storage disorder.
  • It results from deficiencies in enzymes responsible for keratan sulfate degradation.
  • MPS IV has two variants, A and B, with Type A typically being more severe.

Observation:

  • A case of MPS IVA was diagnosed in a 38-year-old woman, illustrating an attenuated phenotype.
  • This presentation highlights that MPS IVA may escape early diagnosis in childhood.
  • Clinical and radiological features of MPS are reviewed, noting pediatricians' greater familiarity.

Findings:

  • Attenuated phenotypes of MPS IVA can lead to diagnosis in adulthood.
  • Keratan sulfate accumulation underlies the pathology of Morquio syndrome.
  • Enzyme deficiencies in Type A MPS IV are distinct from Type B.

Implications:

  • Increased awareness of attenuated MPS IVA phenotypes is crucial for adult diagnosis.
  • Rheumatologists should be involved in managing MPS IVA patients alongside surgical teams.
  • Early and accurate diagnosis improves patient outcomes and management strategies.

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