Krabbe Disease

Synonym

Globoid cell leukodystrophy (GLD)

Codes

ICD-10: E75.2
ORPHA: 487

Estimated occurrence

4:100 000 births in Sweden. Less common in other countries (1:100 000 births).

Etiology

Genetic deviation in chromosome 14 (14q31) which leads to deficient function of the galactocerebrosidase (GALC) enzyme which has an important function for the cells producing myalin.

General symptoms

The disease may make its first appearance at different ages. An early debut produces more serious symptoms and a more rapid course of illness. The infantile form which appears between the age of 3 and 6 months makes up about 90-95% of all those afflicted by Krabbe disease. This difficult form of the disease involves a rapidly progressing loss of brain functions which usually results in death before the age of two. Irritability, screaming and difficulty in sucking are early signs of the disease. Other symptoms include stiffness, twitches and slack muscles.  Periods of inexplicable high fever commonly occur. Sight and hearing are also affected.

Orofacial/odontological symptoms

Children with the infantile form of Krabbe disease have feeding difficulties and as a rule need to receive nutrition through a gastrostomy. Communication is by body language. Many have medicines that entail dryness of the mouth which involves an increased risk of irritated mucous membrane in the mouth and fungal infections in the oral cavity (Candida).

Orofacial/odontological treatment

  • It is important that a child with Krabbe disease has early contact with the dental care service for intensified preventive care and information on the oral cavity.
  • Dentists and dental hygienists in special care dentistry have specific knowledge regarding treatment of dryness of mouth and fragile mucous membrane.
  • Eating and swallowing difficulties are investigated by a specialist team at hospital or habilitation ward.
  • Speech-Language Pathologists can provide information about facial massage and sensory stimulation of the mouth.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-14 11:41