The pulvinar sign: frequency and clinical correlations in Fabry disease.
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Burlina
Alessandro P
AP
Dept. of Neuroscience, Neurological Clinic, University Hospital of Padova, Italy.
Manara
Renzo
R
Caillaud
Catherine
C
Laissy
Jean-Pierre
JP
Severino
Mariasavina
M
Klein
Isabelle
I
Burlina
Alberto
A
Lidove
Olivier
O
D000293:Adolescent; D000328:Adult; D000368:Aged; D002545:Brain Ischemia / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications; D015331:Cohort Studies; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D011446:Prospective Studies; D020649:Pulvinar / Q000098:blood supply / Q000473:pathology*; D051437:Renal Insufficiency / Q000150:complications; D012680:Sensitivity and Specificity; D017678:Sex Distribution; D012737:Sex Factors; D020521:Stroke / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D014715:Vertebrobasilar Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology