[White matter lesions leading to the diagnosis of pseudoxanthoma elasticum].
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disease characterized by skin, eye, cardiovascular, and, less often, cerebrovascular manifestations. We report the case of a 32-year-old woman who presented with fortuitously discovered cerebral white matter lesions. The pattern of the lesions was compatible with vascular leucopathy. Neurological examination, CSF and biological assessment were normal. Physical examination demonstrated cutaneous lesions characterized by yellowish papules in the neck and axilla with calcification of elastic fibres showed on the skin biopsy and retinal angioid streaks, which made PXE a plausible diagnosis. Sequencing of the ABCC6 gene confirmed PXE. Thus, PXE must be considered when confronted with cerebral microangiopathy of undetermined origin.
Service de Neurologie, Hôpital Tenon, 4 Rue de la Chine, 75020 Paris, France. mdalloz@hotmail.com
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Alamowitch
D000328:Adult; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D010808:Physical Examination; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000473:pathology; D012160:Retina / Q000473:pathology; D012867:Skin / Q000473:pathology
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human
Hypersignaux de la substance blanche révélant un pseudoxanthome élastique.