Anderson-Fabry disease with cerebrovascular complications in two Italian families

• DOI: 10.1007/s100720200025
• Publication Date: 2003-03-24T16:48:27Z
• Authors: W. Borsini; G. Giuliacci; F. Torricelli; E. Pelo; F. Martinelli; M. R. Scordo
• Keywords: Adult; Male; Heterozygote; Leukoencephalopathy, Progressive Multifocal; Exons; Middle Aged; Magnetic Resonance Imaging; Pedigree; 3. Good health; Stroke; Cerebrovascular Disorders; 03 medical and health sciences; 0302 clinical medicine; Amino Acid Substitution; Italy; Parkinsonian Disorders; alpha-Galactosidase; Fabry Disease; Humans; Point Mutation; Female

We describe four patients with cerebrovascular complications from two unrelated Italian families with Anderson-Fabry disease. Clinical examination, neuroimaging (MRI), biochemical and genetic analyses were carried out in all the patients. Alpha-galactosidase A activity was detected by fluorimetric assay and genetic analysis was performed by DNA sequencing. Family 1. A male patient presented recurrent strokes when he was 34 years old, albuminuria and subsequently progressive renal failure to renal transplantation. Family 2. A male patient, aged 32 years, had diplopia for a few days and then recurrent strokes with left spastic hemiparesis and internuclear ophthalmoplegia. A female patient, aged 48 years, presented L-dopa-responsive parkinsonism, and her sister had stroke when she was 55 years old. MRI was abnormal in all the patients and showed lacunar infarctions in the periventricular white matter, basal ganglia and pons. Lesions were detected by MRI even before stroke in a female patients. In patients with Anderson-Fabry disease, stroke is a frequent complication, and may be the first threatening clinical manifestation. In young people with undefined stroke, even without signs of renal involvement, it is important to consider the diagnosis of Anderson-Fabry disease and so to perform clinical examination and biochemical analyses. The pre-clinical stage of cerebrovascular involvement may be evaluable by MRI.