Radiological evidence of early cerebral microvascular disease in young children with Fabry disease.
We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of renal, cardiac, or cerebral manifestations. This suggests that treatment with enzyme replacement therapy may be necessary early in the disease to avoid irreversible complications.
Cabrera-Salazar
Mario A
MA
Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
O'Rourke
Erin
E
Charria-Ortiz
Gustavo
G
Barranger
John A
JA
D002561:Cerebrovascular Disorders / Q000473:pathology*; D002648:Child; D000795:Fabry Disease / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008833:Microcirculation