A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.
The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing or skin biopsy. We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. Our findings suggest that negative results in these two tests do not exclude the disease and a leptomeningeal biopsy or a second skin biopsy should be considered in such cases.
de Freitas
G R
GR
Department of Neurology, Centre Hospitalier Universitaire Vaudois, CH1011, Lausanne, Switzerland. gfreitas@nitnet.com.br
Miklossy
J
J
Christen-Zäch
S
S
Reichhart
M
M
Bogousslavsky
J
J
D000368:Aged; D001706:Biopsy; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D002536:Cerebral Arteries / Q000473:pathology / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009131:Muscle, Smooth, Vascular / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D012867:Skin / Q000473:pathology*
C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch