Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia

American Journal of Neuroradiology

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Fig 1.
Axial and sagittal T1-weighted MR images of the brain demonstrating placement of ovoid ROIs on the basal ganglia (red) and ipsilateral thalamus (yellow).
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Fig 2.
A representative patient with HHT and increased basal ganglia signal intensity on sagittal T1-weighted MR imaging (A) with a concurrent hyperenhancing hepatic AVM on arterial phase abdominal CT (B).
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Fig 3.
Another representative patient with HHT and increased basal ganglia signal intensity on axial T1-weighted MR imaging (A) with multiple hyperenhancing hepatic AVMs on coronal arterial phase abdominal CT (B).

Table 1:

Patient demographic and disease characteristics^{^a}

Demographics/Disease Characteristics
Age (yr)	51 ± 18
Sex
Male	129 (41%)
Female	183 (59%)
Mutation
ENG	46 (14.7%)
ALK1	32 (10.3%)
AVM
Cerebral	32 (10.3%)
Pulmonary	151 (48.4%)
Hepatic	94 (30.1%)
Telangiectasia
Hepatic	67 (21.4%)
Nasal	11 (3.5%)
Liver failure	6 (1.9%)
Parkinsonism	4 (1.3%)
Serum laboratory values
Total bilirubin (mg/dL)	0.71 ± 0.53
ALP (U/L)	118.4 ± 101
AST (U/L)	78.9 ± 456
ALT (U/L)	62.2 ± 202
Cardiac output (L/min)	6.6 ± 2.1

Table 2:

Variables associated with BG hyperintensity^{^a}

	BG Not Bright	BG Bright	P Value
	(n = 239, 76.6%)	(n = 73, 23.4%)	P Value
Age (mean) (yr)	48 ± 17.9	62 ± 13.6	<.001
Sex			.62
Male	97 (40.6%)	32 (43.8%)
Female	142 (59.4%)	41 (56.2%)
Mean BG: thalamic intensity
Right	1.07 ± 0.07	1.27 ± 0.14	<.001
Left	1.07 ± 0.07	1.26 ± 0.13	<.001
Mutation			.07
ENG	38 (15.9%)	8 (11.0%)
ALK1	20 (8.4%)	12 (16.4%)
AVM
Cerebral	28 (11.7%)	4 (5.5%)	.12
Pulmonary	120 (50.2%)	31 (42.4%)	.03
Hepatic	58 (24.2%)	36 (49.3%)	<.001
Telangiectasia
Hepatic	50 (20.9%)	17 (23.3%)	<.001
Nasal	5 (2.1%)	6 (8.2%)	.02
Liver failure	2 (0.8%)	4 (5.4%)	.01
Clinical parkinsonism	3 (1.3%)	1 (1.4%)	.38
Serum laboratory values (mean)
Total bilirubin (mg/dL)	0.66 ± 0.40	0.88 ± 0.80	.03
ALP (U/L)	108 ± 80.2	148 ± 145	.03
AST (U/L)	51.2 ± 197	166 ± 862	.28
ALT (U/L)	52.7 ± 139	91.4 ± 327	.35
Cardiac output (L/min)	6.1 ± 1.8	7.9 ± 2.2	<.001