Hurler syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Low nasal bridge

Hurler syndrome

Alternative Names:

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I; Hurler-Scheie Syndrome (MPS 1 H/S); Scheie Syndrome (MPS1S)
Symptoms:

The symptoms of intermediate MPS1 usually developbetween 3 and 8 years of age. Survival into adult life is common.

Infants with severe MPS1 appear normal at birth. Coarsening of facial features is noted during the first two years of life. Symptoms are progressive and include:

Halted growth
Progressive mental retardation
Thick, coarse facial features with low nasal bridge
Cloudy corneas
Deafness
Joint disease, including stiffness
Heart value problems
Abnormal bones of spine and claw hand

Signs and tests:

Tests that may be performed include:

Urine testing for mucoploysacchariduria (heparan and dermatan sulphate). Urine studies are usually conducted first. They mayshow excess MPS when present, but can not determine the exact form of MPS. A definite diagnosisrelies on specific enzyme testing.
Alpha-L-Iduronidase testing in blood, skin or plasma
Molecular genetic testing for the Alpha-L-Iduronidatase (IDUA) gene
Spinex-ray
EKG

References:

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Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9.

National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 05-4899. February 9, 2005.