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

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>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.

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A Case of Adult-Onset Alexander Disease Featuring Severe Atrophy of the Medulla Oblongata and Upper Cervical Cord on Magnetic Resonance Imaging

Case Reports in Neurology ◽

10.1159/000345303 ◽

2012 ◽

Vol 4 (3) ◽

pp. 202-206 ◽

Cited By ~ 4

Author(s):

Tadahiro Yonezu ◽

Shoichi Ito ◽

Kazuaki Kanai ◽

Saeko Masuda ◽

Kazumoto Shibuya ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Medulla Oblongata ◽

Alexander Disease ◽

Cervical Cord ◽

Adult Onset ◽

Resonance Imaging ◽

Upper Cervical

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

10.21203/rs.3.rs-600646/v1 ◽

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.

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Pearls & Oy-sters: Adult-Onset Alexander Disease With Transient Swelling of the Medulla Oblongata

Neurology ◽

10.1212/wnl.0000000000012268 ◽

2021 ◽

pp. 10.1212/WNL.0000000000012268

Author(s):

Yuki Oshima ◽

Ikuko Takahashi-Iwata ◽

Shoki Sato ◽

Taisuke Harada ◽

Tomokatsu Yoshida ◽

...

Keyword(s):

Medulla Oblongata ◽

Alexander Disease ◽

Adult Onset

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Adult-onset leukoencephalopathy with vanishing white matter

European Journal of Radiology ◽

10.1016/s0720-048x(02)00284-x ◽

2002 ◽

Author(s):

M Matsui

Keyword(s):

White Matter ◽

Adult Onset ◽

Vanishing White Matter

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The Role of White Matter Disconnection in the Symptoms Relating to the Anarchic Hand Syndrome: A Single Case Study

Brain Sciences ◽

10.3390/brainsci11050632 ◽

2021 ◽

Vol 11 (5) ◽

pp. 632

Author(s):

Valentina Pacella ◽

Giuseppe Kenneth Ricciardi ◽

Silvia Bonadiman ◽

Elisabetta Verzini ◽

Federica Faraoni ◽

...

Keyword(s):

White Matter ◽

Single Case ◽

Brain Lesion ◽

Structural Connectivity ◽

Disconnection Syndrome ◽

Neuroimaging Data ◽

Neuropsychological Investigation ◽

Anterior Posterior

The anarchic hand syndrome refers to an inability to control the movements of one’s own hand, which acts as if it has a will of its own. The symptoms may differ depending on whether the brain lesion is anterior, posterior, callosal or subcortical, but the relative classifications are not conclusive. This study investigates the role of white matter disconnections in a patient whose symptoms are inconsistent with the mapping of the lesion site. A repeated neuropsychological investigation was associated with a review of the literature on the topic to identify the frequency of various different symptoms relating to this syndrome. Furthermore, an analysis of the neuroimaging regarding structural connectivity allowed us to investigate the grey matter lesions and white matter disconnections. The results indicated that some of the patient’s symptoms were associated with structures that, although not directly damaged, were dysfunctional due to a disconnection in their networks. This suggests that the anarchic hand may be considered as a disconnection syndrome involving the integration of multiple antero-posterior, insular and interhemispheric networks. In order to comprehend this rare syndrome better, the clinical and neuroimaging data need to be integrated with the clinical reports available in the literature on this topic.

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