Mucopolysaccharidoses

Question 1

What are the common mucopolysaccharidoses with orthopedic manifestations?

Answer 1

1) Morquio (keratan sulfate in urine)
2) Hunter’s (dermatan/heparan sulfate in urine)
3) San Filippo (heparan sulfate in urine)
4) Hurler’s (dermatan sulfate in urine)

Question 2

What are the enzyme deficiencies a/w with the mucopolysaccharidoses?

Answer 2

1) Morquio’s (Type A: galactosamine-6-sulfate-sulphatase deficiency, Type B: beta-galactosidase deficiency)
2) Hurler’s (alpha-L iduronidase deficiency)
3) Saf Filippo (multiple enzyme deficiencies)
4) Hunter’s (sulpho-iduronate-sulphatase deficiency)

Question 3

Which of the mucopolysaccharidoses is x-linked?

Answer 3

Hunter’s syndrome

Question 4

Which of the mucopolysaccharidoses has normal intelligence?

Answer 4

Morquio’s

Question 5

What are the orthopedic manifestations of mucopolysaccharidoses?

Answer 5

1) proportionate dwarfism
2) increased rate of carpal tunnel syndrome
3) C1-C2 instability
4) delayed hip dysplasia
5) abnormal epiphyses
6) bullet-shaped phalanges
7) genu valgum
8) kyphosis

Question 6

Which of the mucopolysaccharidoses is a/w odontoid hypoplasia?

Answer 6

Morquio’s

Question 7

Children with lysosomal storage diseases have increased rates of what common orthopedic disease?

Answer 7

Carpal tunnel syndrome