scholarly journals A Rare Cause of Young Stroke: What Rheumatologists Should Know about Fabry Disease

2021 ◽  
Vol 21 (01) ◽  
pp. 47-50
Author(s):  
Xiaoyan Huang ◽  
Lijun Zhang ◽  
Jinxian Huang ◽  
Jifu Cai
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Fabry Disease ◽  
Systemic Vasculitis ◽  
Multiple Organs ◽  
Inappropriate Treatment ◽  
Primary Systemic Vasculitis ◽  
Recurrent Strokes ◽  
The Central Nervous System ◽  
Gene Mutation Analysis

Systemic vasculitis is a category of autoinflammatory diseases usually involving multiple organs. Involvement of the central nervous system (CNS) may mimic other disorders, hence resulting in overdiagnosis. This is a case report of a young man who presented with acrodynia, episodic pyrexia, and recurrent strokes. He was treated for systemic vasculitis with glucocorticoids and immunosuppressants, which failed to prevent the stroke. Finally, Fabry disease was diagnosed after [Formula: see text]-galactosidase A gene mutation analysis was done. Rheumatologists should be aware of Fabry disease, which may present with multi-system involvement that mimics vasculitis. To avoid inappropriate treatment, a comprehensive differential diagnosis should be considered before a diagnosis of primary systemic vasculitis is made. Recurrent strokes, especially in males younger than 40, should raise suspicions of Fabry disease.

scholarly journals Primary Angiitis of the Center Nervous System: A Clinical Challenge Diagnosed Postmortem

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Bayan Al Share ◽  
Ali Zakaria ◽  
Evan Hiner ◽  
Ziyad Iskenderian ◽  
Nader Warra
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Imaging Techniques ◽  
Systemic Vasculitis ◽  
Comfort Care ◽  
Systemic Involvement ◽  
Primary Angiitis ◽  
The Central Nervous System

Primary angiitis of the central nervous system (PACNS) is a rare vasculitis involving medium and small blood vessels of the brain, spinal cord, and meninges, without systemic involvement. The diffuse and patchy nature of its pathology is reflected by a wide spectrum of nonspecific clinical symptoms. Diagnosis is challenging due to lack of defined clinical criteria or specific imaging findings. Specific workup should be done only after exclusion of other etiologies, including infectious, neoplastic, toxic, and other vascular etiologies including systemic vasculitis. Given the fact that it is a patchy disease with 25% of the biopsies being falsely negative, treating physician should have a high index of suspicion despite negative initial neurovascular imaging and biopsy results. Once diagnosed, early treatment with immunosuppressive therapy is essential to avoid permanent neurologic damage. Herein, we are reporting a case of 66-year-old female patient who presented with insidious onset right-sided frontal headache. Her hospital course progressively worsened and family decision based on her wishes was to refer her to hospice and comfort care. Despite an extensive workup with advanced imaging techniques, no diagnosis was established until postmortem autopsy and histopathology confirmed primary angiitis of the central nervous system.

scholarly journals Central nervous system vasculopathy caused by Fabry disease: a case report and literature review

2019 ◽  
Author(s):  
De-Zheng Kong ◽  
Ya-Hui Lian ◽  
Lin-Jing Wang ◽  
Chun-Mei Wang ◽  
Yang-Yang Meng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Fabry Disease ◽  
Initial Treatment ◽  
Spin Echo ◽  
Three Dimensional ◽  
Young Patients ◽  
Vascular Wall ◽  
Black Blood ◽  
The Central Nervous System

Abstract Background Fabry disease is rare, and often the diagnosis is delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three-dimensional T1 volumetric isotropic turbo spin echo acquisition), with a unique advantage of imaging the vascular wall, facilitated a clear identification of the vasculopathy. Case presentation A 27-year-old man visited our hospital for the treatment of " double vision 6d." After a series of examinations, the patient was diagnosed with Fabry disease, which caused vasculopathy of the central nervous system. Subsequently, the patient was treated with corticosteroids and his symptoms were attenuated. Two months after the initial treatment, the initial lesion formed in the vascular vessel disappeared, however, a new lesion appeared. Similarly, four months after the initial treatment, although the previous lesion disappeared, a new lesion appeared. Conclusions This case highlights that clinicians should use MR black-blood sequence scan in a timely manner in case of young patients with repeated strokes and migratory lesions. In case of detection of a vascular lesion in combination with other systemic lesions, the possibility of Fabry disease should be considered.

scholarly journals Fabry disease causes angiitis of the central nervous system:a case report

2018 ◽  
Author(s):  
De-Zheng Kong ◽  
Ya-Hui Lian ◽  
Lin-Jing Wang ◽  
Chun-Mei Wang ◽  
Yang-Yang Meng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Fabry Disease ◽  
Treated Patient ◽  
Young Patients ◽  
Vascular Wall ◽  
Black Blood ◽  
Case Presentation ◽  
The Central Nervous System

Abstract Background: Fabry disease is very rare and often delayed in diagnosis. Described herein are Fabry disease causes angiitis of the central nervous system. MRI black blood sequence has a unique advantage in showing vascular wall. It can clearly show the angiitis. Case presentation: A 27-year-old man came to our hospital for treatment because of "diplopia 6d". The patient was eventually diagnosed with Fabry disease causes angiitis of the central nervous system by a series of examinations. Then，we treated patient with hormones and the symptoms relieved. Two months later，the initial vasculitis was gone，but the new vasculitis appeared. Four months later，the last lesion disappeared，but the new lesion appeared. Conclusions: This case prompts the clinician should use MRI black blood sequence scan in time when young patients have repeated strokes and the lesions are migratory. If vasculitis is found and other systemic lesions are combined，we should think of the possibility of Fabry disease.

scholarly journals The Roles of GABA in Ischemia-Reperfusion Injury in the Central Nervous System and Peripheral Organs

2019 ◽  
Vol 2019 ◽  
pp. 1-19 ◽  
Author(s):  
Chaoran Chen ◽  
Xiang Zhou ◽  
Jialiang He ◽  
Zhenxing Xie ◽  
Shufang Xia ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Ischemia Reperfusion Injury ◽  
Ischemia Reperfusion ◽  
Vital Role ◽  
Pathological Process ◽  
Peripheral Organs ◽  
Multiple Organs ◽  
Long Time ◽  
The Central Nervous System

Ischemia-reperfusion (I/R) injury is a common pathological process, which may lead to dysfunctions and failures of multiple organs. A flawless medical way of endogenous therapeutic target can illuminate accurate clinical applications. γ-Aminobutyric acid (GABA) has been known as a marker in I/R injury of the central nervous system (mainly in the brain) for a long time, and it may play a vital role in the occurrence of I/R injury. It has been observed that throughout cerebral I/R, levels, syntheses, releases, metabolisms, receptors, and transmissions of GABA undergo complex pathological variations. Scientists have investigated the GABAergic enhancers for attenuating cerebral I/R injury; however, discussions on existing problems and mechanisms of available drugs were seldom carried out so far. Therefore, this review would summarize the process of pathological variations in the GABA system under cerebral I/R injury and will cover corresponding probable issues and mechanisms in using GABA-related drugs to illuminate the concern about clinical illness for accurately preventing cerebral I/R injury. In addition, the study will summarize the increasing GABA signals that can prevent I/R injuries occurring in peripheral organs, and the roles of GABA were also discussed correspondingly.

scholarly journals Fabry disease causes angiitis of the central nervous system:a case report

2019 ◽  
Author(s):  
De-Zheng Kong ◽  
Ya-Hui Lian ◽  
Lin-Jing Wang ◽  
Chun-Mei Wang ◽  
Yang-Yang Meng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Fabry Disease ◽  
Initial Treatment ◽  
Spin Echo ◽  
Three Dimensional ◽  
Young Patients ◽  
Vascular Wall ◽  
Black Blood ◽  
The Central Nervous System

Abstract Background Fabry disease is rare, and often the diagnosis is delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three-dimensional T1 volumetric isotropic turbo spin echo acquisition), with a unique advantage of imaging the vascular wall, facilitated a clear identification of the vasculopathy. Case presentation A 27-year-old man visited our hospital for the treatment of " double vision 6d." After a series of examinations, the patient was diagnosed with Fabry disease, which caused vasculopathy of the central nervous system. Subsequently, the patient was treated with corticosteroids and his symptoms were attenuated. Two months after the initial treatment, the initial lesion formed in the vascular vessel disappeared, however, a new lesion appeared. Similarly, four months after the initial treatment, although the previous lesion disappeared, a new lesion appeared. Conclusions This case highlights that clinicians should use MR black-blood sequence scan in a timely manner in case of young patients with repeated strokes and migratory lesions. In case of detection of a vascular lesion in combination with other systemic lesions, the possibility of Fabry disease should be considered.

scholarly journals Central nervous system vasculopathy caused by Fabry disease: a case report

2019 ◽  
Author(s):  
De-Zheng Kong ◽  
Ya-Hui Lian ◽  
Lin-Jing Wang ◽  
Chun-Mei Wang ◽  
Yang-Yang Meng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Fabry Disease ◽  
Initial Treatment ◽  
Spin Echo ◽  
Three Dimensional ◽  
Young Patients ◽  
Vascular Wall ◽  
Black Blood ◽  
The Central Nervous System

Abstract Background: Fabry disease is rare, and the diagnosis is often delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three-dimensional T1 volumetric isotropic turbo spin echo acquisition), with the unique advantage of imaging the vascular wall, facilitated a clear identification of the vasculopathy. Case presentation: A 27-year-old man visited our hospital for the treatment of " double vision 6d." After a series of examinations, the patient was diagnosed with Fabry disease, which caused vasculopathy of the central nervous system. Subsequently, the patient was treated with corticosteroids and his symptoms were attenuated. Two months after the initial treatment, the initial lesion in the vascular vessel disappeared, however, a new lesion appeared. Similarly, four months after the initial treatment, although the previous lesion disappeared, a new lesion appeared. Conclusions: This case highlights that clinicians should use MR black-blood sequence scan in a timely manner in case of young patients with migratory lesions of brain. In case of detection of a vascular lesion in combination with other systemic lesions, the possibility of Fabry disease should be considered.

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency

2019 ◽  
Vol 51 (03) ◽  
pp. 206-210
Author(s):  
Ismail Solmaz ◽  
Elif Soyak Aytekin ◽  
Deniz Çağdaş ◽  
Cagman Tan ◽  
Ilhan Tezcan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Inflammatory Diseases ◽  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Neurological Diseases ◽  
Homozygous Mutation ◽  
Recurrent Strokes ◽  
Chronic Hemolysis ◽  
The Central Nervous System ◽  
Autosomal Recessive Condition

AbstractDefects in the regulatory components of the complement system can lead to inflammatory diseases. We present a patient who had four episodes of demyelination in the central nervous system as the only manifestation of inherited CD59 deficiency. Relapsing encephalopathy partially responsive to intravenous immunoglobulin and steroid treatments on the background of parental consanguinity suggested an inherited immune dysregulation. Next generation sequencing revealed homozygous mutation in the CD59 gene, confirmed by lack of CD59 expression on flow cytometry. Inherited CD59 deficiency is a rare autosomal recessive condition characterized by chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy mimicking Guillain–Barré syndrome or chronic inflammatory demyelinating polyneuropathy. Recurrent central nervous system demyelinating episodes as the only manifestation has not been reported to date in inherited CD59 deficiency. This entity should be considered in the differential diagnosis of patients with early-onset recurrent neurological diseases with central or peripheral origin.

scholarly journals Central nervous system vasculopathy caused by Fabry disease: a case report

2019 ◽  
Author(s):  
De-Zheng Kong ◽  
Ya-Hui Lian ◽  
Lin-Jing Wang ◽  
Chun-Mei Wang ◽  
Yang-Yang Meng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Fabry Disease ◽  
Initial Treatment ◽  
Spin Echo ◽  
Three Dimensional ◽  
Young Patients ◽  
Vascular Wall ◽  
Black Blood ◽  
The Central Nervous System

Abstract Background: Fabry disease is rare, and the diagnosis is often delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three-dimensional T1 volumetric isotropic turbo spin echo acquisition), with the unique advantage of imaging the vascular wall, facilitated a clear identification of the vasculopathy. Case presentation: A 27-year-old man visited our hospital for the treatment of " double vision 6d." After a series of examinations, the patient was diagnosed with Fabry disease, which caused vasculopathy of the central nervous system. Subsequently, the patient was treated with corticosteroids and his symptoms were attenuated. Two months after the initial treatment, the initial lesion in the vascular vessel disappeared, however, a new lesion appeared. Similarly, four months after the initial treatment, although the previous lesion disappeared, a new lesion appeared. Conclusions: This case highlights that clinicians should use MR black-blood sequence scan in a timely manner in case of young patients with migratory lesions of brain. In case of detection of a vascular lesion in combination with other systemic lesions, the possibility of Fabry disease should be considered.

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