دورية أكاديمية
أعرض في EDS

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.

التفاصيل البيبلوغرافية
العنوان: Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.
المؤلفون: Zhong S; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Liu J; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Lian Y; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Zhou B; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China., Wang X; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.; The State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, China., Ding J; Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China. ding.jing@zs-hospital.sh.cn.; CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai, China. ding.jing@zs-hospital.sh.cn.
المصدر: BMC neurology [BMC Neurol] 2024 May 07; Vol. 24 (1), pp. 154. Date of Electronic Publication: 2024 May 07.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, [2001-
مواضيع طبية MeSH: Ataxia*/diagnosis , Ataxia*/genetics , Encephalitis*/diagnosis , Encephalitis*/complications , Encephalitis*/genetics , Encephalitis*/pathology , Fragile X Syndrome*/genetics , Fragile X Syndrome*/diagnosis , Fragile X Syndrome*/complications , Tremor*/diagnosis , Tremor*/genetics , Tremor*/etiology, Humans ; Diagnosis, Differential ; Fragile X Mental Retardation Protein/genetics ; Intranuclear Inclusion Bodies/pathology ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/complications
مستخلص: Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS.
Case Presentation: A 63-year-old Chinese male with late-onset gait disturbance, cognitive decline, and reversible attacks of fever, consciousness impairment, dizziness, vomiting, and urinary incontinence underwent neurological assessment and examinations, including laboratory tests, electroencephalogram test, imaging, skin biopsy, and genetic test. Brain MRI showed T2 hyperintensities in middle cerebellar peduncle and cerebrum, in addition to cerebellar atrophy and DWI hyperintensities along the corticomedullary junction. Lesions in the brainstem were observed. Skin biopsy showed p62-positive intranuclear inclusions. The possibilities of hypoglycemia, lactic acidosis, epileptic seizures, and cerebrovascular attacks were excluded. Genetic analysis revealed CGG repeat expansion in FMR1 gene, and the number of repeats was 111. The patient was finally diagnosed as FXTAS. He received supportive treatment as well as symptomatic treatment during hospitalization. His encephalitic symptoms were completely relieved within one week.
Conclusions: This is a detailed report of a case of FXTAS with reversible encephalitis-like episodes. This report provides new information for the possible and rare features of FXTAS, highlighting that encephalitis-like episodes are common in polyglycine diseases and unable to be used for differential diagnosis.
(© 2024. The Author(s).)
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معلومات مُعتمدة: 2023M730676 China Postdoctoral Science Foundation; 82271499 National Natural Science Foundation of China
فهرسة مساهمة: Keywords: Biopsy; Encephalitis-like episode; Fragile X-associated tremor/ataxia syndrome; Neuronal intranuclear inclusion disease; Trinucleotide repeat expansion
المشرفين على المادة: 0 (FMR1 protein, human)
139135-51-6 (Fragile X Mental Retardation Protein)
SCR Disease Name: Fragile X Tremor Ataxia Syndrome; Neuronal intranuclear inclusion disease
تواريخ الأحداث: Date Created: 20240507 Date Completed: 20240508 Latest Revision: 20240628
رمز التحديث: 20240629
مُعرف محوري في PubMed: PMC11075229
DOI: 10.1186/s12883-024-03641-z
PMID: 38714961
قاعدة البيانات: MEDLINE
الوصف
تدمد:1471-2377
DOI:10.1186/s12883-024-03641-z