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

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...

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Autores principales: Ando, Takashi, Goto, Yoji, Mano, Kazuo, Ueda, Akihiko, Ando, Yukio, Mizuta, Ikuko, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088552/
https://www.ncbi.nlm.nih.gov/pubmed/27725551
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author Ando, Takashi
Goto, Yoji
Mano, Kazuo
Ueda, Akihiko
Ando, Yukio
Mizuta, Ikuko
Mizuno, Toshiki
author_facet Ando, Takashi
Goto, Yoji
Mano, Kazuo
Ueda, Akihiko
Ando, Yukio
Mizuta, Ikuko
Mizuno, Toshiki
author_sort Ando, Takashi
collection PubMed
description 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.
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spelling pubmed-50885522016-11-07 CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions Ando, Takashi Goto, Yoji Mano, Kazuo Ueda, Akihiko Ando, Yukio Mizuta, Ikuko Mizuno, Toshiki Intern Med Case Report 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. The Japanese Society of Internal Medicine 2016-10-01 /pmc/articles/PMC5088552/ /pubmed/27725551 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ando, Takashi
Goto, Yoji
Mano, Kazuo
Ueda, Akihiko
Ando, Yukio
Mizuta, Ikuko
Mizuno, Toshiki
CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
title CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
title_full CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
title_fullStr CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
title_full_unstemmed CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
title_short CADASIL Presenting as Acute Bilateral Multiple Subcortical Infarcts without a Characteristic Temporal Pole or Any External Capsule Lesions
title_sort cadasil presenting as acute bilateral multiple subcortical infarcts without a characteristic temporal pole or any external capsule lesions
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088552/
https://www.ncbi.nlm.nih.gov/pubmed/27725551
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