scholarly journals Adult Onset Alexander Disease Presenting as Psychogenic Polydipsia Induced Recurrent Hyponatremia as the Initial Symptom: A Case Report.

2021 ◽  
Author(s):  
Honghao Li ◽  
Jing Yu ◽  
Shougang Guo
Keyword(s):  
White Matter ◽  
Deep Tendon Reflex ◽  
Brain Magnetic Resonance Imaging ◽  
Alexander Disease ◽  
Personality Change ◽  
Lower Limbs ◽  
Initial Symptom ◽  
Adult Onset ◽  
Psychogenic Polydipsia ◽  
History Of

Abstract BackgroundAlexander disease (AxD, OMIM 203450) is a rare and generally fatal disorder of the central nervous system associated with heterozygous mutations in glial fibrillary acidic protein (GFAP) gene. Neuroradiological and clinical features of adult onset AxD is characterized by involvement of hindbrain structures. Psychiatric manifestations and extensive white matter lesions are very sparse in adult onset AxD.Case presentationWe diagnosed a female with AxD presenting with recurrent hyponatremia caused by psychogenic polydipsia as initial symptom at the onset age of 52-year-old. Neurological examination revealed slightly cognitive decline and brisk deep tendon reflex (DTR) in bilateral lower limbs. The symptoms commonly seen in adult onset AxD such as pseudobulbar signs, ataxia and spasticity were not found in the clinical course of disease. Her mother and elder brother had a history of schizophrenia. The patient has had a history of compulsive water drinking as well as personality change in recent years. Her brain magnetic resonance imaging (MRI) showed extensive involvement of white matter without atrophy of medulla oblongata and cervical spinal cord. The next generation DNA sequencing (NGS) showed a likely pathogenic nonsense mutation C1237C>T(pR413*) in GFAP-ε isoform.ConclusionsOur report enriches the understanding of familial adult onset AxD. Our case also contributes to evidence of pathogenicity of the variants in GFAP-ε as the cause of adult onset AxD.

scholarly journals A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle

2021 ◽  
pp. 355-360
Author(s):  
Tongjia Cai ◽  
Sisi Jing ◽  
Ying Li ◽  
Jianjun Wu
Keyword(s):  
White Matter ◽  
Contrast Enhancement ◽  
Medulla Oblongata ◽  
Lateral Ventricle ◽  
Brain Lesion ◽  
Alexander Disease ◽  
Adult Onset ◽  
White Matter Abnormality ◽  
Frontal White Matter ◽  
Upper Cervical

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (<i>GFAP</i>). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. <i>GFAP</i> sequencing revealed a heterogeneous missense mutation point c.236G&#x3e;A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.

Seizures and Enhancing Brain Lesions

2021 ◽  
pp. 219-221
Author(s):  
Josephe Archie Honorat ◽  
Andrew McKeon
Keyword(s):  
Magnetic Resonance Imaging ◽  
Mycophenolate Mofetil ◽  
White Matter ◽  
Magnetic Resonance ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Biopsy ◽  
Resonance Imaging ◽  
History Of ◽  
High Doses ◽  
T2 Hyperintensity

A 51-year-old man sought care for a 4-month history of generalized seizures. The description of his seizures was consistent with generalized tonic-clonic seizures with focal onset. The patient had no history of head trauma or central nervous system infection and no family history of seizures. The patient reported having visual disturbances for 2 years before the seizures. His medical and surgical history was unremarkable. Brain magnetic resonance imaging showed left temporo-occipital, white matter, T2-signal intensity with gadolinium-enhancing lesions. Brain magnetic resonance imaging showed patchy gadolinium enhancement with T2 hyperintensity in the left parietotemporal and occipital lobes. Brain biopsy of the left temporal lobe showed white matter lesions with necrosis and chronic infiltration with macrophages and CD3-positive T lymphocytes and a predominant perivascular distribution. Focal, secondary vasculitis was present. There was no evidence of lymphoma. A repeated brain biopsy of the parietal lobe after another inflammatory relapse showed pathologic findings identical to the first biopsy. The patient was diagnosed with inflammatory encephalitis without additional defining features on biopsy. The patient received levetiracetam for seizure control, but the seizures remained refractory. He then was treated with high doses of intravenous methylprednisolone and then oral prednisone. Simultaneously, mycophenolate mofetil was initiated. The patient was monitored every 3 months with complete blood cell counts and liver function tests. Three months later, the prednisone dose was slowly tapered. During that process, the patient had no new seizures, and brain magnetic resonance imaging showed no active inflammation. After discontinuation of corticosteroids, the patient had a relapse with a generalized seizure, and brain magnetic resonance imaging showed new gadolinium-enhancing lesions. Prednisone was resumed, with near-remission. He then reinitiated mycophenolate mofetil and continued levetiracetam. With this regimen he remained clinically and radiologically stable, with only occasional visual phenomena that were possibly epileptic, although follow-up electroencephalography when he was symptomatic was normal. Encephalitis of unknown origin represents approximately one-third of cases. This proportion is decreasing over time with the development of novel diagnostic technologies, such as sequencing techniques to identify causative infectious agents and advances in neural autoantibody diagnostics.

038 Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia mimicking systemic lupus erythematosus cerebral vasculitis

2018 ◽  
Vol 89 (6) ◽  
pp. A16.1-A16
Author(s):  
Michal Lubomski ◽  
Michael Buckland ◽  
Joanne Sy ◽  
Heng Wei ◽  
Irene Tan ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
White Matter ◽  
Lupus Erythematosus ◽  
Positive Family History ◽  
Brain Biopsy ◽  
Cerebral Vasculitis ◽  
Adult Onset ◽  
Systemic Lupus ◽  
Cerebral Mri ◽  
History Of

IntroductionWe present an unusual case of adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia (ALSP) mimicking systemic lupus erythematosus (SLE) cerebral vasculitis. ALSP is an autosomal dominant progressive leukodystrophy, associated with mutations in the CSF1R gene, which induce dysregulation of microglia. The case was compiled from records of clinical data, imaging, brain biopsy and genetic studies.CaseA 56 year old previously high functioning man of Southern Chinese origin was hospitalised with recurrent seizures. He had a prior 4 year history of progressive neuropsychiatric features, and 1 year of cognitive decline and occasional falls. Within the year prior, he had positive SLE serology and a renal biopsy consistent with lupus nephritis treated with steroids, mycophenolate, hydroxyl-chloroquine, and later rituximab due to concerns of evolving cerebral vasculitis on cerebral MRI and SPECT scan with MoCA of 20/30. Examination after seizure therapy revealed hyperreflexia, fine tremor, myoclonus, pseudobulbar affect, ideomotor apraxia and slow, independent gait. RUDAS was 6/30 with perseveration. CSF examination and SLE serology were quiescent. Consecutive brain MRIs showed multiple regions of worsening high T2/FLAIR signal in the corpus callosum and supra-tentorial white matter with persistent restricted diffusion. IV steroids and cyclophosphamide were added. Following treatment unresponsiveness, a frontal lobe brain biopsy demonstrated white matter gliosis with prominent axonal spheroids consistent with a primary leukoencephalopathy, with no inflammation, vasculitis nor infection. Immunotherapy was weaned. Genetic testing confirmed a positive CSF1R mutation (c.2329C>T; p. Arg777Trp in Exon 18). A positive family history of dementia in the patient’s elderly mother overseas was identified. The patient remained mobile but mute, and fatally aspirated 8 months after final presentation.ConclusionThis report illustrates an unusual presentation of ALSP, initially misdiagnosed as SLE vasculitis. Clinicians should consider an adult onset leukodystrophy and proceed to biopsy and CSF1R gene testing early in suspected ‘refractory cerebral vasculitis’.

scholarly journals Familial juvenile onset Alexander Disease demonstrating germline mosaicism and presenting with a tumor-like mass of the medulla

2021 ◽  
Vol 48 (s1) ◽  
pp. S3-S4
Author(s):  
C Dunham ◽  
M Sargent ◽  
M Halverson ◽  
J Hukin ◽  
M Tamber ◽  
...  
Keyword(s):  
White Matter ◽  
Alexander Disease ◽  
Low Grade ◽  
List Type ◽  
Unique Case ◽  
Juvenile Onset ◽  
Germline Mosaicism ◽  
Whole Exome ◽  
History Of ◽  
Rosenthal Fibres

Alexander Disease (AD) is a rare and ultimately lethal leukodystrophy, typically presenting in infants who exhibit developmental delay, macrocephaly, seizures, spasticity and quadriparesis. Classic infantile forms are generally due to sporadic mutations in GFAP that result in the massive deposition of intra-astrocytic Rosenthal fibres, particularly in the frontal white matter. However, phenotypic manifestations are broad and include both juvenile and adult forms that often display infratentorial pathology and a paucity of leukodystrophic features. We describe the unique case of an 8.5 year old female who presented with an 8 month history of progressively worsening vomiting and cachexia, whose extensive multidisciplinary systemic workup, including GI biopsies, proved negative. Neuroimaging ultimately revealed bilaterally symmetric and anterior predominant supratentorial signal alterations in the white matter plus a 1.7 x 1.2 x 0.7 mm right dorsal medullary mass. Biopsy of this presumed low-grade glioma revealed features in keeping with AD, which was later confirmed on whole exome sequencing. The proband exhibited a pathogenic p.Arg239Cys heterozygous missense mutation in GFAP, which was apparently inherited from her asymptomatic mother (1% mosaicism in the mother’s blood). Germline mosaic inheritance patterns of young-onset AD, particularly those presenting with a tumor-like mass of the brainstem, are scarcely reported in the literature and serve to expand the clinicopathologic spectrum of AD.LEARNING OBJECTIVESThis presentation with enable the learner to: 1.Recognize an uncommon clinical presentation of AD.2.Describe the underlying genetics of AD, including a rare familial juvenile onset form featuring germline mosaicism.

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

scholarly journals Sustained Opening of the Blood-Brain Barrier with Progressive Accumulation of White Matter Hyperintensities Following Ischemic Stroke

2019 ◽  
Vol 9 (1) ◽  
pp. 16 ◽  
Author(s):  
Imama Naqvi ◽  
Emi Hitomi ◽  
Richard Leigh
Keyword(s):  
Ischemic Stroke ◽  
White Matter ◽  
Acute Stroke ◽  
Blood Brain Barrier ◽  
White Matter Hyperintensities ◽  
Brain Barrier ◽  
Common Finding ◽  
Blood Brain ◽  
History Of ◽  
Iv Tpa

Objective: To report a patient in whom an acute ischemic stroke precipitated chronic blood-brain barrier (BBB) disruption and expansion of vascular white matter hyperintensities (WMH) into regions of normal appearing white matter (NAWM) during the following year. Background: WMH are a common finding in patients with vascular risk factors such as a history of stroke. The pathophysiology of WMH is not fully understood; however, there is growing evidence to suggest that the development of WMH may be preceded by the BBB disruption in the NAWM. Methods: We studied a patient enrolled in the National Institutes of Health Natural History of Stroke Study who was scanned with magnetic resonance imaging (MRI) after presenting to the emergency room with an acute stroke. After a treatment with IV tPA, she underwent further MRI scanning at 2 h, 24 h, 5 days, 30 days, 90 days, 6 months, and 1-year post stroke. BBB permeability images were generated from the perfusion weighted imaging (PWI) source images. MRIs from each time point were co-registered to track changes in BBB disruption and WMH over time. Results: An 84-year-old woman presented after acute onset right hemiparesis, right-sided numbness and aphasia with an initial NIHSS of 13. MRI showed diffusion restriction in the left frontal lobe and decreased blood flow on perfusion imaging. Fluid attenuated inversion recovery (FLAIR) imaging showed bilateral confluent WMH involving the deep white matter and periventricular regions. She was treated with IV tPA without complication and her NIHSS improved initially to 3 and ultimately to 0. Permeability maps identified multiple regions of chronic BBB disruption remote from the acute stroke, predominantly spanning the junction of WMH and NAWM. The severity of BBB disruption was greatest at 24 h after the stroke but persisted on subsequent MRI scans. Progression of WMH into NAWM over the year of observation was detected bilaterally but was most dramatic in the regions adjacent to the initial stroke. Conclusions: WMH-associated BBB disruption may be exacerbated by an acute stroke, even in the contralateral hemisphere, and can persist for months after the initial event. Transformation of NAWM to WMH may be evident in areas of BBB disruption within a year after the stroke. Further studies are needed to investigate the relationship between chronic BBB disruption and progressive WMH in patients with a history of cerebrovascular disease and the potential for acute stroke to trigger or exacerbate the process leading to the development of WMH.

scholarly journals A history of previous childbirths is linked to women's white matter brain age in midlife and older age

2021 ◽  
Author(s):  
Irene Voldsbekk ◽  
Claudia Barth ◽  
Ivan I. Maximov ◽  
Tobias Kaufmann ◽  
Dani Beck ◽  
...  
Keyword(s):  
White Matter ◽  
Older Age ◽  
History Of ◽  
Brain Age
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