title: CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions.
abstract: A 37-year-old man was hospitalized for an evaluation of acute bilateral multiple subcortical infarcts. There were no specific signal abnormalities in the temporal pole or external capsule. An abdominal skin biopsy showed granular, electron-dense, osmiophilic material (GOM) in the smooth muscle cells on electron microscopy. A direct sequencing analysis of NOTCH3 revealed a heterozygous c.986G>A substitution in exon 6, resulting in a Cys329Tyr amino acid replacement. According to these findings, the patient was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencehalopathy (CADASIL). Thus, early phases of CADASIL can present as acute bilateral multiple subcortical infarcts without a characteristic temporal pole or any external capsule lesions.
authors.affiliation: Department of Neurology, Kasugai Municipal Hospital, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Ando
authors.forename: Yoji
authors.initials: Y
authors.lastname: Goto
authors.forename: Kazuo
authors.initials: K
authors.lastname: Mano
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ueda
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.forename: Ikuko
authors.initials: I
authors.lastname: Mizuta
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mizuno
mesh_terms: D000328:Adult; D046589:CADASIL / Q000175:diagnosis* / Q000503:physiopathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000503:physiopathology; D003937:Diagnosis, Differential; D005091:Exons / Q000502:physiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D032389:Myocytes, Smooth Muscle / Q000473:pathology; D012867:Skin / Q000473:pathology