Signs, Symptoms & Clinical presentation

MPS I is a heterogeneous disease spanning a spectrum of severity. Individuals with the most severe form of MPS I typically suffer from a number of progressively debilitating symptoms, including mental retardation. Their maximum lifespan is approximately 8 to 10 years^[1]. Individuals at the opposite end of the disease spectrum have physical symptoms that can be as severe, but they generally retain normal intellect and stature, and may have a normal lifespan.

Because the disease generally affects many organ systems and can present in a variety of ways, diagnosis and treatment of MPS I disease may require collaboration and communication among geneticists, neurologists, pediatricians, developmental specialists, surgeons, cardiologists, gastroenterologists, physiotherapists, and primary care providers.

The physical appearance for MPS I is quite variable:

Coarse facial features

Broad mouth, square jaw, and receding chin

Large tongue

Excess facial and body hair

Large, scaphocephalic head

Corneal clouding

Short neck

Stocky build with short trunk

Joint deformities (see picture below)

Claw hand deformity in a patient with MPSI
(Photo courtesy of National MPS)

Patient with MPS I at age 4 years
(Photos courtesy of the National MPS Society, Inc.)

Nervous System

Skeletal System

Respiratory System

Auditory System

Ocular System

Cardiovascular System

Gastrointestinal System

References

1. Neufeld, E.F., and Muenzer, J. (1995) The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds.). 7th edition. McGraw-Hill, Medical Publishing Division, pp. 2465.