Another vascular disease that can produce MS-like lesions

A forum to discuss Chronic Cerebrospinal Venous Insufficiency and its relationship to Multiple Sclerosis.

Another vascular disease that can produce MS-like lesions

Postby frodo » Fri Aug 20, 2010 4:40 am

I don't know how relevant this can be, but interesting in any case.

Fabry disease mimicking multiple sclerosis
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Postby thisisalex » Fri Aug 20, 2010 7:39 am

interesting find frodo!

here is another woman having both disease:
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Postby sbr487 » Fri Aug 20, 2010 9:36 am

can this part of the reason why some people with MS don't have ccsvi. Are they possibly MS mis diagnosis cases?
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Postby 1eye » Fri Aug 20, 2010 9:51 am

J Inherit Metab Dis. 2004;27(2):229-40.
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy.

Jardim L, Vedolin L, Schwartz IV, Burin MG, Cecchin C, Kalakun L, Matte U, Aesse F, Pitta-Pinheiro C, Marconato J, Giugliani R.

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90.035-003 Porto Alegre, Brazil.

We report the clinical and radiological central nervous system (CNS) findings of 8 Fabry disease patients, before (8/8 ) and after (7/8 ) 12 months of enzyme replacement therapy (ERT) with agalsidase-alpha. Eight biochemically proven Fabry disease patients (from four families) were included. Patients were evaluated at baseline and at regular intervals during 12 months of ERT. Evaluations included a thorough, standardized neurological examination, and magnetic resonance imaging (MRI) and angiography (MRA). Brain proton magnetic resonance spectroscopy (MRS) was also performed in 5/8 patients. The presence and location of grey- and white-matter lesions, the presence of vascular occlusion or ectasia on MRA and the metabolite ratios on MRS were determined, as well as their relation to age, symptoms and neurological examination. Neurological examination showed few abnormalities in these patients: scores varied (on a 0-100 scale) from zero to 5, at baseline and in the 12th month of ERT. The most consistent findings on MRI were asymmetric, widespread patterns of deep white-matter (WM) lesions, hyperintense on T2 and FLAIR-weighted images, found in 4/8 patients at baseline, predominantly in frontal and parietal lobes. These lesions did not correlate with other clinical variables, although there was a trend towards an association of the lesions with age and hearing loss. The youngest patient with MRI lesions was 24 years old. After 12 months of ERT, MRI was normal in 3/7, showed the same WM lesions in 2/7, and showed worsening of WM lesions in 2/7 patients (from the same family). Abnormal MRS metabolite ratios were detected at baseline in 4/5 patients. While neurological examination remained almost normal during the 12 months of ERT, new small-vessel CNS involvement still appeared in 2/7 patients. We do not know why ERT was not able to prevent this in these two related male patients. This could be due either to their older ages (46 and 36 years), or to a more pathogenic mutation. We conclude that MRI was more sensitive than neurological examination in detecting CNS involvement and progression in Fabry disease in the time interval studied.

PMID: 15159654 [PubMed - indexed for MEDLINE]
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