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Table 2 Neuroradiological characteristics of late-onset type and control GA1 patients (listed according to age at MRI)

From: Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

 

High/low excretor

Age at

Subependymal lesions

min. slice thickn.

wm changes

gm changes

Fronto-temp. hypoplasia

diagnosis

at MRI

y/n

n=

max diam. [mm]

Pat. #

 p1a

high

8.5 years

8.5 years

n

-

-

3.5 mm

y

pall., thal., dent.

y

9.5 years

n

-

-

3.5 mm

y

pall., thal., dent.

y

10.4 years

n

-

-

1 mm

y

pall., thal., dent.

y

11.9 years

n

-

-

1 mm

y

pall., thal., dent.

y

12.7 years

y

1

1.5

1 mm

y

pall., thal., dent.

y

13.7 years

y

1

1.5

1 mm

y

pall., thal., dent.

y

15.7 years

y

4

1.5

1 mm

y

pall., thal., dent.

y

 p2b

high

15 years

14.7 years

y

mult.

3

2 mm

y

pall., dent.

y

 p3

high

22 years

22.4 years

n

-

-

1 mm

y

dent.

y

 p4

high

29 years

29.4 years

n

-

-

6 mm

y

dent.

y

29.6 years

n

-

-

6 mm

y

dent.

y

38.3 years

n

-

-

2 mm

y

dent.

y

40.4 years

n

-

-

1 mm

y

dent.

y

 p5

high

18 years

31.1 year

y

2

3

1 mm

y

dent.

y

 p6

high

25 years

37.9 years

y

mult.

19

1.3 mm

y

 

y

 p7

high

71 year

61.8 years

y

2

10

5 mm

y

right caudate (postischemic)

y

65.1 year

y

2

10

5 mm

y

right caudate (postischemic)

y

66.4 years

y

3

12

4 mm

y

right caudate (postischemic)

y

70.2 years

y

4

13

4 mm

y

right caudate (postischemic)

y

72.1 year

y

4

13

4 mm

y

right caudate (postischemic)

y

73.8 years

y

5

13

1 mm

y

right caudate (postischemic)

y

 p8b

high

66 years

66.3 years

y

1

17

6 mm

y

 

y

Controls #

 c1c

high

8 d

6.2 years

n

-

-

1 mm

y

 

y

 c2c

high

17 d

7.2 years

n

-

-

1 mm

n

righ thal., dent.

n

9.5 years

n

-

-

1 mm

n

righ thal., dent.

n

 c3

low

10 week

8.7 years

n

-

-

1 mm

n

 

n

 c4

low

10 d

10.6 years

n

-

-

1 mm

n

 

n

 c5

low

13 m

11.0 year

n

-

-

1 mm

n

 

n

 c6c

high

prenatal

11.0 year

n

-

-

3.6 mm

y

palllidum

y

13 .0 year

n

-

-

3.6 mm

y

palllidum

y

15.1 year

n

-

-

2 mm

y

palllidum

y

19.1 year

n

-

-

1 mm

y

palllidum

y

 c7

high

3 m

14.0 year

y

1

2

3.6 mm

y

palllidum

y

16.0 year

y

2

2

3.6 mm

y

palllidum

y

18.0 year

y

2

3

2 mm

y

palllidum

y

22.1 year

y

2

3

1 mm

y

palllidum

y

 c8

low

36 m

16.0 year

n

-

-

1 mm

n

 

n

  1. d days, dent. dentate nucleus, m months, mul. multiple, n.d. not determined, NBS newborn screening, pall. pallidum, scr. screening, sib. sibling., thal. thalamus, yrs, years. a initial findings including MRIs at 8.5, 9.5, 10.4 years were reported in Harting et al. 2009 as case 5; b reported in [12]; c initial findings of c1, c2, and c6 were reported in Harting et al. 2009 (c1 = case 2 (≤50 months), c2 = case 3 (≤36 months), c6 = case 4 (≤15 years), [18])
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172