The pulvinar sign: Frequency and clinical correlations in Fabry disease

Dept. of Neuroscience, Neurological Clinic, University Hospital of Padova, Italy.
Journal of Neurology (Impact Factor: 3.84). 06/2008; 255(5):738-44. DOI: 10.1007/s00415-008-0786-x
Source: PubMed

ABSTRACT Fabry disease is an X-linked lysosomal deficiency of alpha-galactosidase A that results in cellular accumulation of galactoconjugates, mainly globotriaosylceramide, particularly in blood vessels. Neuroradiological findings include ischemic stroke, white matter lesions, vascular abnormalities (vertebrobasilar dolichoectasia and vessel tortuosity), and posterior thalamus involvement (the so called pulvinar sign). The purpose of our study was to investigate the presence of the increased pulvinar signal intensity on T1-weighted imaging - pulvinar sign and its relationship with other clinical findings, in a non-selected cohort of Fabry patients.
We performed a prospective analysis of two populations of patients (36 subjects) with Fabry disease. Patients were followed-up at the Department of Internal Medicine of the Bichat Hospital in Paris (France) and at the Neurological Clinic of the University Hospital of Padova (Italy). Brain MR studies of each patient included T1- and T2- weighted images, FLAIR sequences, and in some cases diffusion weighted images.
A total of 36 patients (16 males, 20 females) were investigated in 14 families. The pulvinar sign was found in 5 male patients, but not in female patients. Seven patients had had at least one stroke (territorial or lacunar). There was no correlation between stroke and the pulvinar sign. All patients with the pulvinar sign had hypertrophic cardiomyopathy. Four patients out of five with the pulvinar sign were on dialysis or had a kidney transplantation.
Our findings suggest that the pulvinar sign is a highly specific sign of Fabry disease, found in male patients with cardiac signs and severe kidney involvement.

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    • "Hyperintensity in the pulvinar on T1-weighted images is a common finding in Fabry disease, likely reflecting the presence of calcification (Moore et al., 2003; Takahashi et al., 2003). The pulvinar sign is highly specific to Fabry disease and is found in male patients with cardiac signs and severe renal involvement (Burlina et al., 2008). Although progressive white matter lesions at early age, increased signal intensity in the pulvinar, and tortuosity and dilatation of the large vessels are well known on cranial MRI, increased basilar artery diameter has been shown to be superior for separating patients with Fabry disease from controls with an accuracy of 87% (Fellgiebel et al., 2009). "
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