A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants
Abstract Background Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, a...
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2025-01-01
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| Online Access: | https://doi.org/10.1186/s12883-024-04018-y |
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| author | Bashar Kamal Ali Douden Yazan Mohammad Abdullah Abufara Mahmood Fayez Ali Aldrabeeh Naela Ramadan Mohammad Tell Ismail Abudaya |
| author_facet | Bashar Kamal Ali Douden Yazan Mohammad Abdullah Abufara Mahmood Fayez Ali Aldrabeeh Naela Ramadan Mohammad Tell Ismail Abudaya |
| author_sort | Bashar Kamal Ali Douden |
| collection | DOAJ |
| description | Abstract Background Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors. Very few instances worldwide have been reported, with adult onset of vanishing white matter considered to account for 15% of cases. Clinical evaluation, MRI results, and confirmatory genetic testing are used to diagnose VWMD. Case presentation A 39-year-old male from Hebron, Palestine, presented with a 7-month history of postural instability, imbalanced gait, and progressive deterioration of his lower extremities. Additionally, the patient suffered from ocular abnormalities and sphincteric issues. The patient’s sibling showed comparable symptoms but was never diagnosed, as he passed away because of colon cancer. Reduced cognitive function, spastic quadriparesis, hyperreflexia, bradykinesia, and shuffling gait were found during a neurological examination. Normal results were obtained from routine laboratory tests, including cerebrospinal fluid (CSF), blood, and urine. Periventricular white matter hyperintensities, which are indicative of vanishing white matter leukoencephalopathy (VWML), were identified during an MRI. The diagnosis of adult-onset VWML with movement disability was substantiated by genetic testing, which named a homozygous pathogenic missense variant, EIF2B3, and a deletion in PRKN/PARK2. The patient’s motor symptoms were temporarily alleviated following the administration of Levodopa/Carbidopa. Nevertheless, the long-term consequences are uncertain due to the illness’s ongoing progression and the absence of a cure currently. Conclusion This instance of vanishing white matter leukoencephalopathy (VWML) is particularly remarkable in adults because of its rarity and complexity. The diagnosis is further complicated by the coexistence of Parkinsonism and VWML. Although a cure is not currently known. Early discovery is crucial to effectively manage symptoms. This example underscores the importance of more VWML research, particularly in Palestine, where studies on neurological disorders are limited. These findings underscore the importance of enhancing the region’s diagnostic and therapeutic capabilities. |
| format | Article |
| id | doaj-art-0a6bf0dd646c4fd1aadb7ae68cb82db0 |
| institution | Kabale University |
| issn | 1471-2377 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | BMC Neurology |
| spelling | doaj-art-0a6bf0dd646c4fd1aadb7ae68cb82db02025-01-05T12:34:07ZengBMCBMC Neurology1471-23772025-01-012511510.1186/s12883-024-04018-yA rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variantsBashar Kamal Ali Douden0Yazan Mohammad Abdullah Abufara1Mahmood Fayez Ali Aldrabeeh2Naela Ramadan Mohammad Tell3Ismail Abudaya4Faculty of Medicine, Department of Medicine, Al-Quds UniversityFaculty of Medicine, Department of Medicine, Al-Quds UniversityFaculty of Medicine, Department of Medicine, Al-Quds UniversityFaculty of Medicine, Department of Medicine, Al-Quds UniversityFaculty of Medicine, Department of Neurology, Al-Quds UniversityAbstract Background Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors. Very few instances worldwide have been reported, with adult onset of vanishing white matter considered to account for 15% of cases. Clinical evaluation, MRI results, and confirmatory genetic testing are used to diagnose VWMD. Case presentation A 39-year-old male from Hebron, Palestine, presented with a 7-month history of postural instability, imbalanced gait, and progressive deterioration of his lower extremities. Additionally, the patient suffered from ocular abnormalities and sphincteric issues. The patient’s sibling showed comparable symptoms but was never diagnosed, as he passed away because of colon cancer. Reduced cognitive function, spastic quadriparesis, hyperreflexia, bradykinesia, and shuffling gait were found during a neurological examination. Normal results were obtained from routine laboratory tests, including cerebrospinal fluid (CSF), blood, and urine. Periventricular white matter hyperintensities, which are indicative of vanishing white matter leukoencephalopathy (VWML), were identified during an MRI. The diagnosis of adult-onset VWML with movement disability was substantiated by genetic testing, which named a homozygous pathogenic missense variant, EIF2B3, and a deletion in PRKN/PARK2. The patient’s motor symptoms were temporarily alleviated following the administration of Levodopa/Carbidopa. Nevertheless, the long-term consequences are uncertain due to the illness’s ongoing progression and the absence of a cure currently. Conclusion This instance of vanishing white matter leukoencephalopathy (VWML) is particularly remarkable in adults because of its rarity and complexity. The diagnosis is further complicated by the coexistence of Parkinsonism and VWML. Although a cure is not currently known. Early discovery is crucial to effectively manage symptoms. This example underscores the importance of more VWML research, particularly in Palestine, where studies on neurological disorders are limited. These findings underscore the importance of enhancing the region’s diagnostic and therapeutic capabilities.https://doi.org/10.1186/s12883-024-04018-yVanishing white matter leukoencephalopathy (VWML)Vanishing white matter disease (VWMD)Movement disorder. |
| spellingShingle | Bashar Kamal Ali Douden Yazan Mohammad Abdullah Abufara Mahmood Fayez Ali Aldrabeeh Naela Ramadan Mohammad Tell Ismail Abudaya A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants BMC Neurology Vanishing white matter leukoencephalopathy (VWML) Vanishing white matter disease (VWMD) Movement disorder. |
| title | A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants |
| title_full | A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants |
| title_fullStr | A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants |
| title_full_unstemmed | A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants |
| title_short | A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants |
| title_sort | rare case of adult onset vanishing white matter leukoencephalopathy with movement disorder expressing homozygous eif2b3 and prkn pathogenic variants |
| topic | Vanishing white matter leukoencephalopathy (VWML) Vanishing white matter disease (VWMD) Movement disorder. |
| url | https://doi.org/10.1186/s12883-024-04018-y |
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