Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report
Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on the f...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
The Korean Society of Radiology
2023-05-01
|
| Series: | Journal of the Korean Society of Radiology |
| Subjects: | |
| Online Access: | https://doi.org/10.3348/jksr.2021.0015 |
| _version_ | 1827938590200430592 |
|---|---|
| author | Ha Yun Oh Ra Gyoung Yoon Ji Ye Lee Ohyun Kwon Woong-Woo Lee |
| author_facet | Ha Yun Oh Ra Gyoung Yoon Ji Ye Lee Ohyun Kwon Woong-Woo Lee |
| author_sort | Ha Yun Oh |
| collection | DOAJ |
| description | Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that
presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing
difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on
the findings on MRI. We demonstrate two cases (37-year-old female and 61-year-old female) with
characteristic imaging findings and changes in follow-up MRI in patients with AOAD, which were confirmed
via glial fibrillary acidic protein (GFAP ) mutation analysis. On MRI, the typical tadpole-like
brainstem atrophy and periventricular white matter abnormalities were noted. The presumptive diagnoses
were made based on the typical MRI appearances and, subsequently, confirmed via GFAP
mutation analysis. Follow-up MRI demonstrated the progression of atrophy in the medulla and upper
cervical spinal cord. Our report could help raise awareness of characteristic MRI findings of AOAD,
thus helping clinicians use GFAP analysis for AOAD diagnosis confirmation. |
| first_indexed | 2024-03-13T08:40:22Z |
| format | Article |
| id | doaj.art-b8c7826d18da44b6851455df1e0914b2 |
| institution | Directory Open Access Journal |
| issn | 2951-0805 |
| language | English |
| last_indexed | 2024-03-13T08:40:22Z |
| publishDate | 2023-05-01 |
| publisher | The Korean Society of Radiology |
| record_format | Article |
| series | Journal of the Korean Society of Radiology |
| spelling | doaj.art-b8c7826d18da44b6851455df1e0914b22023-05-30T14:11:16ZengThe Korean Society of RadiologyJournal of the Korean Society of Radiology2951-08052023-05-01843736744Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case ReportHa Yun OhRa Gyoung YoonJi Ye LeeOhyun KwonWoong-Woo LeeAdult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on the findings on MRI. We demonstrate two cases (37-year-old female and 61-year-old female) with characteristic imaging findings and changes in follow-up MRI in patients with AOAD, which were confirmed via glial fibrillary acidic protein (GFAP ) mutation analysis. On MRI, the typical tadpole-like brainstem atrophy and periventricular white matter abnormalities were noted. The presumptive diagnoses were made based on the typical MRI appearances and, subsequently, confirmed via GFAP mutation analysis. Follow-up MRI demonstrated the progression of atrophy in the medulla and upper cervical spinal cord. Our report could help raise awareness of characteristic MRI findings of AOAD, thus helping clinicians use GFAP analysis for AOAD diagnosis confirmation.https://doi.org/10.3348/jksr.2021.0015alexander diseaseadultmagnetic resonance imaging |
| spellingShingle | Ha Yun Oh Ra Gyoung Yoon Ji Ye Lee Ohyun Kwon Woong-Woo Lee Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report Journal of the Korean Society of Radiology alexander disease adult magnetic resonance imaging |
| title | Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report |
| title_full | Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report |
| title_fullStr | Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report |
| title_full_unstemmed | Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report |
| title_short | Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report |
| title_sort | characteristic mr imaging features and serial changes in adult onset alexander disease a case report |
| topic | alexander disease adult magnetic resonance imaging |
| url | https://doi.org/10.3348/jksr.2021.0015 |
| work_keys_str_mv | AT hayunoh characteristicmrimagingfeaturesandserialchangesinadultonsetalexanderdiseaseacasereport AT ragyoungyoon characteristicmrimagingfeaturesandserialchangesinadultonsetalexanderdiseaseacasereport AT jiyelee characteristicmrimagingfeaturesandserialchangesinadultonsetalexanderdiseaseacasereport AT ohyunkwon characteristicmrimagingfeaturesandserialchangesinadultonsetalexanderdiseaseacasereport AT woongwoolee characteristicmrimagingfeaturesandserialchangesinadultonsetalexanderdiseaseacasereport |