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2015 ; 10
(12
): e0143940
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry
Disease: A Nationwide, Long-Time, Prospective Follow-Up
#MMPMID26629990
Korsholm K
; Feldt-Rasmussen U
; Granqvist H
; Højgaard L
; Bollinger B
; Rasmussen AK
; Law I
PLoS One
2015[]; 10
(12
): e0143940
PMID26629990
show ga
BACKGROUND: Fabry disease is a rare metabolic glycosphingolipid storage disease
caused by deficiency of the lysosomal enzyme ?-galactosidase A--leading to
cellular accumulation of globotriasylceramide in different organs, vessels,
tissues, and nerves. The disease is associated with an increased risk of
cerebrovascular disease at a young age in addition to heart and kidney failure.
OBJECTIVE: The objective of this study was to assess brain function and structure
in the Danish cohort of patients with Fabry disease in a prospective way using
18-fluoro-deoxyglucose (F-18 FDG) positron emission tomography (PET) and magnetic
resonance imaging (MRI). PATIENTS: Forty patients with Fabry disease (14 males,
26 females, age at inclusion: 10-66 years, median: 39 years) underwent a brain
F-18-FDG-PET-scan at inclusion, and 31 patients were followed with FDG-PET
biannually for up to seven years. All patients (except one) had a brain MRI-scan
at inclusion, and 34 patients were followed with MRI biannually for up to nine
years. IMAGE ANALYSIS: The FDG-PET-images were inspected visually and analysed
using a quantitative 3-dimensional stereotactic surface projection analysis
(Neurostat). MRI images were also inspected visually and severity of white matter
lesions (WMLs) was graded using a visual rating scale. RESULTS: In 28 patients
brain-FDG-PET was normal; in 23 of these 28 patients brain MRI was normal--of the
remaining five patients in this group, four patients had WMLs and one patient
never had an MRI-scan. In 10 patients hypometabolic areas were observed on
brain-FDG-PET; all of these patients had cerebral infarcts/hemorrhages visualized
on MRI corresponding to the main hypometabolic areas. In two patients
brain-FDG-PET was ambiguous, while MRI was normal in one and abnormal in the
other. CONCLUSION: Our data indicated that, in patients with Fabry disease, MRI
is the preferable clinical modality--if applicable--when monitoring cerebral
status, as no additional major brain-pathology was detected with FDG-PET.