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Clinical and Translational Neuroscience is published by MDPI from Volume 5 Issue 2 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with SAGE.
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Review

CARASIL with Coronary Artery Disease and Distinct Cerebral Microhemorrhage: A Case Report and Literature Review

by
Sebastian J Müller
1,*,
Eya Khadhraoui
1,
Ibrahim Allam
2,
Loukas Argyriou
3,
Ute Hehr
4,
Jan Liman
2,
Gerd Hasenfuß
5,
Mathias Bähr
2,
Christian H Riedel
1 and
Jan C Koch
2
1
Institute of Neuroradiology, Georg-August-University Göttingen, 37075 Göttingen, Germany
2
Department of Neurology, Georg-August-University Göttingen, 37075 Göttingen, Germany
3
Institute of Human Genetics, Georg-August-University Göttingen, 37075 Göttingen, Germany
4
Center for Human Genetics Regensburg, 93047 Regensburg, Germany
5
Department of Cardiology, Georg-August-University Göttingen, 37075 Göttingen, Germany
*
Author to whom correspondence should be addressed.
Clin. Transl. Neurosci. 2020, 4(1), 7; https://doi.org/10.1177/2514183x20914182
Submission received: 25 November 2019 / Accepted: 27 February 2020 / Published: 26 March 2020
Versions Notes

Abstract

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maeda syndrome) is an extremely rare autosomal-recessive genetic disorder with a serious arteriopathy causing subcortical infarcts and leukoencephalopathy. In less than 20 cases, a genetic mutation was proven. Patients suffer from alopecia, disc herniations, and spondylosis. Between the age of 30 and 40, the patients typically develop severe cerebral infarcts. Clinical symptoms, genetic study, magnetic resonance imaging (MRI), and coronary angiography of a patient with proven CARASIL are presented. The patient showed the typical phenotype with cerebral small-vessel disease, cerebral infarcts, spondylosis, and abnormal hair loss. Additionally, distinct cerebral microhemorrhage and a severe coronary artery disease (CAD) were found, which have not been reported before for CARASIL. Mutation screening revealed the presence of a homozygous c.1022G > T substitution in the HTRA1 gene. Evidence from other publications supports a pathogenetic link between the HTRA1 mutation and CAD as a new feature of CARASIL. This is the first report about CARASIL with a concomitant severe CAD. Thus, in patients with CARASIL, other vessel diseases should also be considered.
Keywords: CARASIL; Maeda syndrome; small cerebral vessel disease; NSTEMI; HTRA1 CARASIL; Maeda syndrome; small cerebral vessel disease; NSTEMI; HTRA1

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MDPI and ACS Style

Müller, S.J.; Khadhraoui, E.; Allam, I.; Argyriou, L.; Hehr, U.; Liman, J.; Hasenfuß, G.; Bähr, M.; Riedel, C.H.; Koch, J.C. CARASIL with Coronary Artery Disease and Distinct Cerebral Microhemorrhage: A Case Report and Literature Review. Clin. Transl. Neurosci. 2020, 4, 7. https://doi.org/10.1177/2514183x20914182

AMA Style

Müller SJ, Khadhraoui E, Allam I, Argyriou L, Hehr U, Liman J, Hasenfuß G, Bähr M, Riedel CH, Koch JC. CARASIL with Coronary Artery Disease and Distinct Cerebral Microhemorrhage: A Case Report and Literature Review. Clinical and Translational Neuroscience. 2020; 4(1):7. https://doi.org/10.1177/2514183x20914182

Chicago/Turabian Style

Müller, Sebastian J, Eya Khadhraoui, Ibrahim Allam, Loukas Argyriou, Ute Hehr, Jan Liman, Gerd Hasenfuß, Mathias Bähr, Christian H Riedel, and Jan C Koch. 2020. "CARASIL with Coronary Artery Disease and Distinct Cerebral Microhemorrhage: A Case Report and Literature Review" Clinical and Translational Neuroscience 4, no. 1: 7. https://doi.org/10.1177/2514183x20914182

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