CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
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- Ando Takashi
- Department of Neurology, Kasugai Municipal Hospital, Japan
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- Goto Yoji
- Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Japan
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- Mano Kazuo
- Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Japan
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- Ueda Akihiko
- Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Japan
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- Ando Yukio
- Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Japan
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- Mizuta Ikuko
- Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan
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- Mizuno Toshiki
- Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan
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説明
<p>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. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 55 (19), 2873-2876, 2016
一般社団法人 日本内科学会
