Hurler-Scheie syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords: MPS I H-S.

Overview

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 between the two extremes Hurler syndrome and Scheie syndrome. It is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Historical Perspective

Classifcation

Pathophysiology

Genetics

Hurler-Scheie syndrome is caused by mutations in the IDUA gene (4p16.3) leading to partial deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate. Transmission is autosomal recessive.

Differentiating Hurler-Scheie syndrome from other Diseases

Differential diagnoses include the milder and more severe forms of mucopolysaccharidosis type 1 (Scheie syndrome and Hurler syndrome respectively), mucopolysaccharidosis typeVI and mucopolysaccharidosis type II (see these terms).

Epidemiology and Demographics

The prevalence of MPS I has been estimated at 1/100,000, with Hurler-Scheie syndrome accounting for 23% of cases or a prevalence of approximately 1/435,000.

Risk Factors

Screening

Natural History, Complications, and Prognosis

Life expectancy for Hurler-Scheie syndrome may be reduced, with death occurring before adolescence due to serious cardiovascular and respiratory complications.

Diagnosis

Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment.

Diagnostic Critera

History and Symptoms

Physical Examination

Appearence of the Patient

Skin

Head

Eyes

Ear

Nose

  • Nasal secretion

Throat

Heart

Abdomen

Laboratory Findings

Diagnosis is based on detection of increased urinary secretion of heparan and dermatan sulfate through 1,9-dimethylmethylene blue test(DMB test) and glycosaminoglycan (GAG) electrophoresis, and demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available.

Imaging Findings

Other Diagnostic Studies

Treatment

Management should be carried out by a multidisciplinary team and should include physiotherapy to maintain range of movement.

Medical Therapy

Pharmacotherapy

The enzyme substitute (laronidase) given through weekly infusions leads to improvement of lung function and joint mobility. Enzyme replacement therapy (ERT) should be started at diagnosis and may be beneficial in patients awaiting hematopoietic stem cell transplantation(HSCT). Early treatment slows the progression of the disease.

Surgery

Bone marrow or umbilical cord blood transplant has been successful and can preserve neurocognition, improve some aspects of the somatic disease and increase survival. However it is associated with many risks and most of the positive effects occur only if the procedure is performed in the first two years of life.

In individual patients with MPS1 of intermediate severity, HSCT may be considered if there is a suitable donor. There are however no data on the efficacy of HSCT in patients with this form of the disease.

Genetic Counseling

Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known. Genetic counseling is recommended.

Primary Prevention

Secondary Prevention=

References


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