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Hurler syndrome in Adult
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Hurler syndrome in Adult

Contributors: Amy Fox MD, David Dasher MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Hurler syndrome, also known as gargoylism or mucopolysaccharidosis I-H, is a rare autosomal dominant lysosomal storage disease caused by deficiency of α-L-iduronidase, leading to accumulation of glycosaminoglycans within lysosomes and thereby causing multiorgan system disease. Within α-L-iduronidase deficiency are two types, Hurler syndrome, which is associated with a more severe phenotype, and Scheie syndrome, a more attenuated phenotype. In both phenotypes, patients have a complete lack of α-L-iduronidase enzyme activity.

Classic findings in this disease include characteristic facies, short stature, cardiomyopathy and valvular disease, hearing loss, respiratory insufficiency, and stiff joints, among others. Degree of neurologic impairment is highly variable. A spectrum from normal intellect to severe intellectual impairment has been reported.

Hurler syndrome is a chronic progressive disease. Those with severe phenotypes often do not survive the first decade of life; milder phenotypes can survive into adulthood with significant morbidity.

For more information, see OMIM.

Codes

ICD10CM:
E76.01 – Hurler's syndrome

SNOMEDCT:
65327002 – Mucopolysaccharidosis type I-H
75610003 – Mucopolysaccharidosis type I

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Other mucopolysaccharidoses (Hunter, Sanfilippo, Morquio, Maroteaux-Lamy) – Phenotypes within these diseases are very similar. Definitive diagnosis of each disease is made with enzyme assay from cultured fibroblasts, leukocytes, amniocytes, or serum.
  • Mucolipidoses (type I-IV) – Additional lysosomal storage disease with similar phenotypes. Defect is degradation of lipid within lysosome, and definitive diagnosis is made using enzyme assay.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated:11/07/2018
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Hurler syndrome in Adult
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Hurler syndrome : Hepatosplenomegaly, Corneal opacities, Deafness, Hoarseness, Joint stiffness, Short stature, Thickened skin, Developmental delay
Clinical image of Hurler syndrome
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