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[Hurler syndrome: early diagnosis and treatment]

S Leroux1, J-B Muller1, E Boutaric1

  • 1Service de néonatologie, hôpital Mère-Enfant, CHU de Nantes, , 38, boulevard Jean-Monnet, 44000 Nantes, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|April 5, 2014
PubMed

Insights

Hurler syndrome (MPS I) is a rare genetic disorder. Early diagnosis and treatment with enzyme replacement and stem cell therapy can stabilize symptoms and preserve cognitive development in infants.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Pediatric medicine

Background:

  • Hurler syndrome (Mucopolysaccharidosis type I) is a severe lysosomal storage disease caused by alpha-L-iduronidase deficiency.
  • Glycosaminoglycan accumulation leads to progressive multi-organ dysfunction.
  • MPS I incidence is approximately 1-2 per 100,000 live births.

Observation:

  • A 3-week-old infant presented with feeding difficulties, coarse facial features, hypotonia, and airway obstruction.
  • Clinical signs and biochemical tests confirmed MPS I, including elevated urinary GAGs and absent alpha-L-iduronidase activity.
  • Genetic analysis revealed homozygosity for the p.W402X mutation in the IDUA gene.

Findings:

  • The infant experienced progressive symptoms including skeletal deformities, glaucoma, and dilated cardiomyopathy.
  • Enzyme replacement therapy (ERT) with laronidase at 5 months stabilized cardiac function and reduced organomegaly.
  • Hematopoietic stem cell transplantation (HSCT) at 11 months preserved cognitive development.

Implications:

  • This case highlights the critical role of early diagnosis in managing Hurler syndrome.
  • Combined ERT and HSCT can effectively manage severe MPS I manifestations.
  • Timely intervention is key to preventing irreversible organ damage and preserving neurodevelopment.

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