Hurler syndrome

Synonym

  • Mucopolysaccharidosis type I
  • MPS I H

Codes

ICD-10: E76.0
ORPHA: 93473

Estimated occurrence

1 in 100,000 live births.

Cause

Mucopolysaccharidosis is a collective name for various metabolic diseases that occur due to a deficiency of various lysosomal enzymes. Lysosomal enzymes are needed to break down certain substances which would otherwise accumulate in the body and could cause damage to different organs.

General symptoms

Hurler syndrome is the most severe form of MPS I, where the brain, heart, lungs, liver, skeleton, joints, vision and hearing are all affected to varying degrees.

Orofacial/odontological symptoms

There are typical facial characteristic associated with the diagnosis. There are often spaces between the teeth and enamel disturbances occur. Gums may bleed easily. Bite deviations are common. A large tongue and reduced opening of the jaw may also occur. The upper airways are sometimes narrow and this can cause an increased risk of sleep apnoea. Some medicines may produce side effects in the form of a dry mouth. In the case of neurological disabilities, oral motor functions and speech development may be affected. Eating difficulties and reduced saliva control are common.

Orofacial/odontological treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • When the jaws do not open properly, the function of the jaw joint should be investigated, and appropriate treatment thereafter prescribed.
  • When treating medically compromised patients always contact their doctor for medical advice (bleeding problems, heart diseases etc).
  • Patients with MPS syndromes should be examined by an experienced anaesthetist before planned surgery.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
  • Speech, language and communication training are often required.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.

Source

  • The National Board of Health and Welfare’s knowledge database about rare diagnoses.
  • The MHC – Mun-H-Center – database about oral health and orofacial function in rare diagnoses.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-12 13:33