Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports

Sho Kitahara; Shintaro Tsuboguchi; Masahiro Uemura; Hiroaki Nozaki; Masato Kanazawa; Osamu Onodera

doi:10.1016/j.clineuro.2022.107502

Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports

Clin Neurol Neurosurg. 2022 Dec:223:107502. doi: 10.1016/j.clineuro.2022.107502. Epub 2022 Oct 31.

Authors

Sho Kitahara¹, Shintaro Tsuboguchi², Masahiro Uemura³, Hiroaki Nozaki⁴, Masato Kanazawa⁵, Osamu Onodera⁶

Affiliations

¹ Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan. Electronic address: [email protected].
² Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan. Electronic address: [email protected].
³ Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan. Electronic address: [email protected].
⁴ Department of Neurology, Niigata City General Hospital, 463-7 Shumoku, Chuo-ku, Niigata city, 950-1197, Japan; Department of Medical Technology, Graduate School of Health Sciences, Niigata University, 2-746 Asahimachidori, Chuo-ku, Niigata city, 951-8518, Japan. Electronic address: [email protected].
⁵ Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan. Electronic address: [email protected].
⁶ Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan. Electronic address: [email protected].

PMID: 36334553
DOI: 10.1016/j.clineuro.2022.107502

Abstract

White matter hyperintensities (WMHs) on brain magnetic resonance (MR) images are characteristic of hereditary cerebral small vessel disease (CSVD), including high-temperature requirement serine peptidase A1 (HTRA1)-related CSVD. Although HTRA1-related CSVD is increasingly recognized, the diagnosis is still challenging. We encountered two patients with HTRA1-related CSVD who were misdiagnosed with other diseases, including multiple sclerosis and idiopathic normal-pressure hydrocephalus. Both patients had extended WMHs in addition to multiple lacunes and microbleeds on brain MR images, which are characteristic of CSVD. If lacunes or microbleeds are found in patients with severe WMHs, genetic tests for hereditary CSVD should be considered.

Keywords: CARASIL; CSVD; HTRA1; INPH; MS.

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging
Brain / pathology
Cerebral Hemorrhage / pathology
Cerebral Small Vessel Diseases* / diagnostic imaging
Cerebral Small Vessel Diseases* / genetics
Diagnostic Errors
Heterozygote
High-Temperature Requirement A Serine Peptidase 1 / genetics
Humans

Substances

HTRA1 protein, human
High-Temperature Requirement A Serine Peptidase 1