Skip to main content

Table 1 Demographic characteristics and thoracic spinal radiological findings of mucopolysaccharidosis type IVa patients

From: Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study

 

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Patient 6

Patient 7

Patient 8

Patient 9

Patient 10

Patient 11

Patient 12

Age (y/o) at study enrollment

15

14

9

2

6

7

5

15

26

1

1

28

Gender

Female

Female

Male

Female

Female

Female

Male

Female

Male

Male

Male

Male

Clinical indications for CT/MRI exam

Obstructive airways

Obstructive airways and craniocervical junction abnormalities

Obstructive airways, heart disease and craniocervical junction abnormalities

Craniocervical junction abnormalities

Obstructive airways

Craniocervical junction abnormalities

Obstructive airways, heart disease and craniocervical junction abnormalities

Obstructive airways and craniocervical junction abnormalities

Obstructive airways and heart disease

Craniocervical junction abnormalities

Thoracic kyphosis

Obstructive airways, heart disease and craniocervical junction abnormalities

CT

  

MRI

 

  

 

ERT

     

Subtype of thoracic kyphosis

1

1

1

1

2

2

2

1

1

1

2

1

Thoracic kyphosis apex

T2

T1/2

T2

T2

T5

T5

T4/5

T2

T2

T2

T5

T2

Cobb angle of thoracic kyphosis

0 –10 degrees

10  –20 degrees

10 –20 degrees

10 –20 degrees

20 – 30 degrees

30 –40 degrees

20 –30 degrees

10 –20 degrees

20 –30 degrees

10 –20 degrees

20 –30 degrees

10 –20 degrees

Central beaking of middle thoracic vertebral body

+

+

+

++

++

++

+

++

+

Thoracolumbar kyphosis apex

L1

T11

T12

T12

L2

T11

L1

L1

T12

L1

L2

T11

  1. CT Computed tomography; MRI Magnetic resonance imaging; ERT Enzyme replacement therapy; T Thoracic; L Lumbar; √, yes; “‒” indicates square-shaped vertebral body (no significant central beaking); “+” indicates square-shaped to mild central beaking (central beaking < 1/3 height of vertebral body); “++” indicates mild to moderate central beaking (central beaking between 1/3 and 2/3 height of vertebral body)