Older adult-onset Alexander disease with atypical clinicoradiological features: a case report
Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for glial fibrillary acidic protein. AxD is divided into two clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal symptoms and occurs in the second decade of l...
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Published in | Frontiers in neurology Vol. 14; p. 1139047 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
Frontiers Media S.A
15.06.2023
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Subjects | |
Online Access | Get full text |
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Summary: | Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for glial fibrillary acidic protein. AxD is divided into two clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal symptoms and occurs in the second decade of life or later, and its radiologic features include tadpole-like appearance of the brainstem, ventricular garlands, and pial signal changes along the brainstem. Recently, eye-spot signs in the anterior medulla oblongata (MO) have been reported in patients with elderly-onset AxD. In this case, an 82-year-old woman presented with mild gait disturbance and urinary incontinence without bulbar symptoms. The patient died 3 years after symptom onset as a result of rapid neurological deterioration after a minor head injury. MRI showed signal abnormalities resembling angel wings in the middle portion of the MO along with hydromyelia of the cervicomedullary junction. Herein, we report the case of this patient with older adult-onset AxD with an atypical clinical course and distinctive MRI findings. |
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Bibliography: | Reviewed by: Yuto Uchida, Johns Hopkins Medicine, United States; Fiore Manganelli, University of Naples Federico II, Italy; Ylenia Vaia, University of Milan, Italy; Amanda Nagy, Massachusetts General Hospital and Harvard Medical School, United States Edited by: Félix Javier Jiménez-Jiménez, Hospital Universitario del Sureste, Spain Myeong-Kyu Kim orcid.org/0000-0001-8673-7561 ORCID: You-Ri Kang orcid.org/0000-0001-5189-1323 Seung-Han Lee orcid.org/0000-0002-4410-646X Jae-Myung Kim orcid.org/0000-0003-0483-4179 Seong-Min Choi orcid.org/0000-0003-3138-1881 Kyung Wook Kang orcid.org/0000-0001-9362-8670 Tai-Seung Nam orcid.org/0000-0003-2771-8728 |
ISSN: | 1664-2295 1664-2295 |
DOI: | 10.3389/fneur.2023.1139047 |