CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions

  • Ando Takashi
    Department of Neurology, Kasugai Municipal Hospital, Japan
  • Goto Yoji
    Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Japan
  • Mano Kazuo
    Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Japan
  • Ueda Akihiko
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Japan
  • Ando Yukio
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Japan
  • Mizuta Ikuko
    Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan
  • Mizuno Toshiki
    Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan

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Abstract

<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>

Journal

  • Internal Medicine

    Internal Medicine 55 (19), 2873-2876, 2016

    The Japanese Society of Internal Medicine

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