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Elevated CNS average diffusion constant in Fabry disease
Author(s) -
Moore DF,
Schiffmann R,
Ulug AM
Publication year - 2002
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2002.tb03114.x
Subject(s) - fabry disease , medicine , magnetic resonance imaging , diffusion mri , globotriaosylceramide , effective diffusion coefficient , nuclear medicine , nuclear magnetic resonance , pathology , cardiology , disease , radiology , physics
Aims : Evaluation of the average brain diffusion constant in Fabry disease. Introduction : Fabry disease is an X‐linked recessive lysosomal storage disorder secondary to deficiency of α‐galactosidase A and resulting in excess tissue globotriaosylceramide, particularly in cerebral blood vessels. This has been associated with cerebral hyperperfusion. Increased tissue perfusion should increase interstitial water by the Starling relationship. This hypothesis was examined by measuring the average CNS diffusion constant (D av ) in patients with Fabry disease using diffusion‐weighted magnetic resonance imaging (DWI). Methods : Axial DWI was performed at b = 1000 seconds/mm 2 and b = 1000 seconds/mm 2 (TR (pulse repetition time), 10 000; TE (time to echo), 100; FOV (field of view), 22 cm; 3 mm interleaved slices; image matrix, 128 × 128; GE Signa, 1.5T). Eight healthy male volunteers (age range, 21–47 years) and 17 hemizygous patients with Fabry disease (age range, 19–49 years) were examined. Following DWI acquisition, the trace image and the diffusion distribution map were calculated. The diffusion distribution curve was then fitted by a multi‐modal Gaussian curve, allowing estimation of D av . Results : The D av was 0.743 ±; 0.024 ±; 10 ‐5 cm 2 /second (mean ±; SD) for patients with Fabry disease and 0.726 ±; 0.014 ±; 10 ‐5 cm 2 /second for the control group. D av was significantly increased in the patients with Fabry disease compared with the controls ( p = 0.029) Conclusions : The elevated D av indicates increased brain tissue water diffusivity in patients with Fabry disease, a finding consistent with increased extracellular water and increased cerebral blood flow.