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Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case
Sho Kitahara1, Shintaro Tsuboguchi1, Masahiro Uemura1
1Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan.
Insights
Diagnosing hereditary cerebral small vessel disease (CSVD), like HTRA1-related CSVD, is challenging. Consider genetic testing for CSVD if patients present with severe white matter hyperintensities, lacunes, and microbleeds.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- White matter hyperintensities (WMHs) are hallmarks of hereditary cerebral small vessel disease (CSVD).
- High-temperature requirement serine peptidase A1 (HTRA1)-related CSVD is increasingly recognized but diagnostically challenging.
- Misdiagnosis of HTRA1-related CSVD can occur, with patients being mistaken for conditions like multiple sclerosis or idiopathic normal-pressure hydrocephalus.
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.
