Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G&gt;A Mutation

Article Figures & Data

Download figure
Open in new tab
Download powerpoint
Fig 1.
A 54-year-old man with IVS4-type Fabry disease had hypertrophic cardiomyopathy, headache, and stroke. Brain MR (A) axial T2 FLAIR image reveals old lacunar infarcts at the bilateral internal capsules (arrow) and increased deep white matter hyperintensities (arrowheads). B, The diameter at the middle segment of the basilar artery (lines) was measured as 3.2 mm on a 3D time-of-flight MR angiogram.
Download figure
Open in new tab
Download powerpoint
Fig 2.
A 63-year-old man with cardiac-type Fabry disease and an IVS4 + 919G>A mutation. A brain MR axial T1-weighted image reveals high signal changes at the bilateral posterior thalamus (arrows), the “pulvinar sign.”
Download figure
Open in new tab
Download powerpoint
Fig 3.
Bar graph of the averaged volume of regional white matter hyperintensities at the periventricular white matter (PVWMH), deep white matter (DWMH), and total white matter in both patients with IVS4-type Fabry disease and healthy controls.

Table 1:

The brain MR imaging findings of patients with IVS4-type Fabry disease and healthy controls

	IVS4 Fabry Disease	Healthy Control	P Value^{^a}
No.	26	26
Mean age (SD) (years)	59.3 (7.2)	58.4 (6.48)	.680
Sex (M/F)	20:6	20:6	1.000
Infarction	9 (35%)	0 (0%)	.001
Area of infarction (anterior circulation/posterior circulation/both)	3/2/4	0/0/0	.012
Hemorrhage/microbleeds	0 (0%)	0 (0%)	1.000
White matter scores^{^b}	15/8/2/1	19/6/1/0	.554
Pulvinar sign	8 (30%)	0 (0%)	.002
Chiari I malformation	0 (0%)	0 (0%)	1.000
Vascular stenosis^{^c}	2 (8%)	2 (8%)	1.000
Mean diameter of BA (SD) (mm)	2.75 (0.62)	2.47 (0.66)	.245
Laterality of BA^{^b}	12/13/1/0	6/18/1/1	.283
Height of BA bifurcation^{^b}	6/10/10	9/11/6	.436

Table 2:

Comparison of brain MR imaging findings in patients with IVS4-type Fabry disease, with and without brain infarctions

	Infarction	Noninfarction	P Value^{^a}
No.	9	17
Mean age (SD) (years)	64.0 (5.2)	56.8 (7.0)	.009
Sex (M/F)	6:3	14:3	.332
Area of infarction (anterior circulation/posterior circulation/both)	3/2/4	0/0/0	.012
Hemorrhage/microbleeds	0 (0%)	0 (0%)	1.000
White matter scores^{^b}	2/4/2/1	13/4/0/0	.023
Pulvinar sign	3 (33%)	5 (29%)	.837
Chiari I malformation	0 (0%)	0 (0%)	1.000
Vascular stenosis^{^c}	2 (22%)	0 (0%)	.041
Mean diameter of BA (SD) (mm)	2.57 (0.64)	2.86 (0.61)	.301
Laterality of BA^{^b}	4/5/0/0	8/8/1/0	.732
Height of BA bifurcation^{^b}	3/5/1	3/5/9	.114

Table 3:

Brain MR imaging findings of female patients with IVS4-type Fabry disease and healthy controls

	Late-Onset Fabry Disease	Healthy Control	P Value^{^a}
No.	6	6
Mean age (SD) (years)	57.8 (6.5)	58.0 (6.2)	.937
Infarction	3 (50%)	0 (0%)	.091
Area of infarction (anterior circulation/posterior circulation/both)	2/1/0	0/0/0	.135
Hemorrhage/microbleeds	0 (0%)	0 (0%)	1.000
White matter scores^{^b}	2/3/1/0	5/1/0/0	.193
Pulvinar sign	1 (17%)	0 (0%)	.500
Chiari I malformation	0 (0%)	0 (0%)	1.000
Vascular stenosis^{^c}	1 (17%)	0 (0%)	.500
Mean diameter of BA (SD) (mm)	2.25 (0.41)	2.62 (0.42)	.180
Laterality of BA^{^b}	1/5/0/0	1/4/0/1	.574
Height of BA bifurcation^{^b}	2/2/2	2/1/3	.766

Table 4:

Brain MR imaging findings of male patients with IVS4 +919G>A and healthy controls

	Late-Onset Fabry Disease	Healthy Control	P Value^{^a}
No.	20	20
Mean age (SD) (years)	59.7 (7.5)	58.5 (6.7)	.547
Infarction	6 (30%)	0 (0%)	.010
Area of infarction (anterior circulation/posterior circulation/both)	1/1/4	0/0/0	.070
Hemorrhage/microbleeds	0 (0%)	0 (0%)	1.000
White matter scores^{^b}	13/5/1/1	14/5/1/0	.792
Pulvinar sign	7 (35%)	0 (0%)	.004
Chiari I malformation	0 (0%)	0 (0%)	1.000
Vascular stenosis^{^c}	1 (5%)	2 (10%)	.513
Mean diameter of BA (SD) (mm)	2.91 (0.60)	2.43 (0.72)	.041
Laterality of BA^{^b}	11/8/1/0	5/14/1/0	.143
Height of BA bifurcation^{^b}	4/8/8	7/10/3	.191