A practical approach to adult-onset white matter diseases, with illustrative cases
| Autor: | Tasneem F. Hasan, Philip W. Tipton, Suzanne M. Brown, Prasuna Kamireddi, Zbigniew K. Wszolek, Kenneth A. Vatz, Paldeep S. Atwal, William D. Freeman, Neeharika Thottempudi |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
medicine.medical_specialty 2019-20 coronavirus outbreak Genetic syndromes business.industry SARS-CoV-2 Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Pneumonia Viral COVID-19 White Matter Hyperintensity Betacoronavirus White matter pathology Unknown Significance Leukoencephalopathies White Matter Diseases medicine Humans Surgery Neurology (clinical) Intensive care medicine business Coronavirus Infections Pandemics |
| Zdroj: | Neurologia i neurochirurgia polska. 54(4) |
| ISSN: | 0028-3843 |
| Popis: | Aim. To evaluate five illustrative cases and perform a literature review to identify and describe a working approach to adult-onset white matter diseases (WMD). State of the art. Inherited WMD are a group of disorders often seen in childhood. In adulthood, progressive WMDs are rare, apart from the common nonspecific causes of hypertension and other cerebrovascular diseases. The pattern of WMDs on neuroimaging can be an important clue to the final diagnosis. Due to the adoption of a combined clinical-imaging-laboratory approach, WMD is becoming better recognised, in addition to the rapidly evolving field of genomics in this area. Clinical implications. While paediatric WMDs have a well-defined and literature-based clinical-laboratory approach to diagnosis, adult-onset WMDs remain an important, pathologically diverse, radiographic phenotype, with different and distinct neuropathologies among the various subtypes of WMD. Adult-onset WMDs comprise a wide collection of both acquired and inherited aetiologies. While severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) neurological complications are emerging, we are as yet unaware of it causing WMD outside of post-anoxic changes. It is important to recognise WMD as a potentially undefined acquired or genetic syndrome, even when extensive full genome testing reveals variants of unknown significance. Future directions. We propose a combined clinical-imaging-laboratory approach to WMD and continued exploration of acquired and genetic factors. Adult-onset WMD, even given this approach, can be challenging because hypertension is often comorbid. Therefore, we propose that undiagnosed patients with WMD be entered into multicentre National Organisation for Rare Diseases registries to help researchers worldwide make new discoveries that will hopefully translate into future cures. |
| Databáze: | OpenAIRE |
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