Scheie Syndrome (Mucopolysaccharidosis Type IS)

Incidence: 1:500,000

Inherited as autosomal recessive

Difficult intubation

Positioning difficulty

Cardiac problems

Macroglossia leading to difficult intubation

Valvular heart disease, cardiomyopathy

Stiff joints

Spastic paresis

Poor IV access

Described by American ophthalmologist Harold Glendon Scheie in 1962.

Mildest form of mucopolysaccharidosis type (1) and a rare lysosomal storage disease.

Pts are of normal height and do not show intellectual deficiency.

Corneal clouding and glaucoma.

Coarse facial features.

Normal life expectancy, stiff joints, and aortic regurgitation.

Caused by mutations in genes that control production of enzyme alpha- l -iduronidase (IDUA).

The gene known as IDUA causes deficiency of enzymes and results in buildup of undigested mucopolysaccharidesin the cells.

Diagnosis occurs by elevated GAG in urine and demonstration of IDUA deficiency in leukocytes.