Girish Manohar Fatterpekar MBBS, Presenter: Nothing to Disclose

Robert Desnick, Abstract Co-Author: Nothing to Disclose

Maryam Banikazemi, Abstract Co-Author: Nothing to Disclose

Thomas P. Naidich MD, Abstract Co-Author: Nothing to Disclose

To describe the neuroimaging findings in Fabry disease, a multisystem X-linked microangiopathy that results from alpha-galactosidase deficiency.

A retrospective study was performed to evaluate the neuroimaging findings in 56 male patients with Fabry disease and 78 female carriers. MRI scans obtained using axial T1WI, T2WI, FLAIR, DWI and coronal gradient echo sequences were interpreted by a single neuroradiologist, blinded to the patient and carrier population.

The patient and carrier population demonstrated marked differences in the imaging findings. Carrier females showed discrete, ovoid foci of abnormal signal intensity that, were bright on FLAIR and T2W sequences. They involved predominantly the subcortical white matter of the anterior circulation, with relative sparing of the posterior circulation. Periventricular/periatrial lesions were less common; watershed lesions were rare. In contrast, the male patients showed more confluent lesions, predominantly involving the periventricular/periatrial and watershed regions of the anterior circulation. Lesions were seen infrequently in the subcortical white matter and rarely in the posterior circulation. The gray matter was not involved in carrier females, but was involved sparingly in male patients. Neither group showed restricted diffusion in any lesion.

Patients and carriers showed marked differences in the imaging findings, which may reflect different underlying pathologies or different extents of the disease. The cause for the predominant involvement of the subcortical white matter in carrier females is not known. Predominant involvement of the anterior circulation in both groups suggests greater vulnerability of this circulation to glycosphingolipid deposition in the vascular endothelium.

Fatterpekar, G, Desnick, R, Banikazemi, M, Naidich, T, Neuroimaging Findings in Fabry Disease.  Radiological Society of North America 2005 Scientific Assembly and Annual Meeting, November 27 - December 2, 2005 ,Chicago IL. http://archive.rsna.org/2005/4419111.html