Internal Medicine

0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16

Mucopolysaccharidoses 1003

Costello syndrome

Schinzel-Giedeon syndrome

■other causes of increased urine mucopolysaccharides: Kniest dys-

plasia, Lowe syndrome, Grave’s disease, scleroderma, rheumatoid

arthritis, psoriasis, diabetes mellitus, cystic fibrosis

management

What to Do First

■assess severity of neurologic, eye, cardiac, bone disease

General Measures

■developmental assessment

■physical therapy for contractures

specific therapy

■referral to biochemical genetics center

■supportive measures only

➣corneal transplant

➣VP shunt for hydrocephalus

➣hearing aids, PE tubes

➣aortic/mitral valve replacement

➣bacterial endocarditis prophylaxis for patients with cardiac

abnormalities

➣decompression for carpal tunnel syndrome

➣cervical spine fusion (MPS IV)

➣total knee arthroplasty (MPS IV)

■bone marrow or umbilical cord blood transplantation may arrest or

reverse systemic manifestations (except bone disease), esp. for MPS

I, but is not standard therapy for all disorders

■enzyme replacement therapy is available for MPS I and in clinical

trials for MPS II, MPS VI (improves systemic manifestations, but

does not cross blood-brain barrier)

■gene therapy experimental

follow-up

■regular monitoring for complications of disease

■spinal fusion may be needed to prevent paralysis

■genetic counseling

complications and prognosis

Complications

■spinal cord compression (esp. in anesthesia)