Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review
| العنوان: | Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review |
|---|---|
| المؤلفون: | Mingwu Xia, Shugang Cao, Zhaoping Yu, Juan Wang, Hong Yue, Aimei Wu, Chi Zhang, Juncang Wu |
| المصدر: | World neurosurgery. 143 |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, Male, Pathology, medicine.medical_specialty, Splenium, Gene mutation, Corpus callosum, Corpus Callosum, Leukoencephalopathy, White matter, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Alopecia, Cerebral Infarction, High-Temperature Requirement A Serine Peptidase 1, medicine.disease, Mental Status and Dementia Tests, Magnetic Resonance Imaging, White Matter, Pedigree, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, 030220 oncology & carcinogenesis, HTRA1, Mutation, Surgery, Spinal Diseases, Neurology (clinical), Centrum ovale, business, 030217 neurology & neurosurgery, Intervertebral Disc Displacement |
| الوصف: | Background Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare monogenic autosomal disease associated with the HtrA serine protease 1 (HTRA 1) gene mutation. Recently, a few genetically confirmed CARASIL cases with novel HTRA1 mutations have been reported in countries other than Japan. Case Description Here, we report a case of a patient presenting with worsening right hemiplegia and hemiparesthesia. Physical examination revealed that the patient had typical clinical features of CARASIL including thinning hair, cognitive impairment, emotional changes, lumbago, and gait disorder. Brain magnetic resonance imaging showed abnormal diffuse symmetric changes in white matter and hypertensive diffusion-weighted imaging signals in the left centrum ovale and right splenium of the corpus callosum, and susceptibility-weighted imaging showed multiple cerebral microbleeds. Lumbar magnetic resonance imaging showed herniated disks with degenerative changes. A genetic test showed a novel homozygous nucleotide variation of c.847G>T in the HTRA1 gene, thereby resulting in p.Gly283Ter. Thus the patient met the diagnostic criteria for CARASIL. We provide a literature review of genetically confirmed CARASIL cases reported to date. Conclusions CARASIL is a rare autosomal recessive disease with an HTRA1 mutation. Familiarity with the early clinical and imaging features of CARASIL combined with a genetic test is key for its early diagnosis. |
| تدمد: | 1878-8769 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa595e09d3ec00e3642817a7852d17aTest https://pubmed.ncbi.nlm.nih.gov/32445900Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....dfa595e09d3ec00e3642817a7852d17a |
| قاعدة البيانات: | OpenAIRE |
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Recently, a few genetically confirmed CARASIL cases with novel HTRA1 mutations have been reported in countries other than Japan. Case Description Here, we report a case of a patient presenting with worsening right hemiplegia and hemiparesthesia. Physical examination revealed that the patient had typical clinical features of CARASIL including thinning hair, cognitive impairment, emotional changes, lumbago, and gait disorder. Brain magnetic resonance imaging showed abnormal diffuse symmetric changes in white matter and hypertensive diffusion-weighted imaging signals in the left centrum ovale and right splenium of the corpus callosum, and susceptibility-weighted imaging showed multiple cerebral microbleeds. Lumbar magnetic resonance imaging showed herniated disks with degenerative changes. A genetic test showed a novel homozygous nucleotide variation of c.847G>T in the HTRA1 gene, thereby resulting in p.Gly283Ter. Thus the patient met the diagnostic criteria for CARASIL. 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