Hurler syndrome in Adult
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.
E76.01 – Hurler's syndrome
65327002 – Mucopolysaccharidosis type I-H
75610003 – Mucopolysaccharidosis type I
Differential Diagnosis & Pitfalls
- Other mucopolysaccharidoses (, Sanfilippo, Morquio, ) – 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.