A practical approach to adult-onset white matter diseases, with illustrative cases
, 2
Abstract
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.
Keywords: adult-onsetgenetic analysismagnetic resonance imagingwhite matter diseasewhite matter hyperintensitiesCOVID-19
References
- Ahmed RM, Murphy E, Davagnanam I, et al. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 2014; 85(7): 770–781.
- Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009; 15(6): 319–328.
- Xiong YY, Mok V, Wong A, et al. Age-related white matter changes. J Aging Res. 2011; 2011(1): 617927–57.
- Mao L, Jin H, Wang M, et al. Neurologic Manifestations of Hospitalized Patients With Coronavirus Disease 2019 in Wuhan, China. JAMA Neurol. 2020 [Epub ahead of print].
- Al Saiegh F, Ghosh R, Leibold A, et al. Status of SARS-CoV-2 in cerebrospinal fluid of patients with COVID-19 and stroke. J Neurol Neurosurg Psychiatry. 2020; 91(8): 846–848.
- Carod-Artal FJ. Neurological complications of coronavirus and COVID-19. Rev Neurol. 2020; 70(9): 311–322.
- Köhler W, Curiel J, Vanderver A. Adulthood leukodystrophies. Nat Rev Neurol. 2018; 14(2): 94–105.
- Lynch DS, Wade C, Paiva AR, et al. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry. 2019; 90(5): 543–554.
- O'Sullivan M, Jarosz JM, Martin RJ, et al. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology. 2001; 56(5): 628–634.
- Hack R, Rutten J, Lesnik O, et al. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews [Internet]. Seattle, WA: University of Washington. Seattle, WA: University of Washington, Seattle. ; 2000.
- Toma AK, Holl E, Kitchen ND, et al. Evans' index revisited: the need for an alternative in normal pressure hydrocephalus. Neurosurgery. 2011; 68(4): 939–944.
- Bartlett E, Mikulis DJ. Chasing "chasing the dragon" with MRI: leukoencephalopathy in drug abuse. Br J Radiol. 2005; 78(935): 997–1004.
- Singh R, Saini M. Toxic leucoencephalopathy after 'chasing the dragon'. Singapore Med J. 2015; 56(6): e102–e104.
- Filley CM, Kleinschmidt-DeMasters BK. Toxic leukoencephalopathy. N Engl J Med. 2001; 345(6): 425–432.
- Alambyan V, Pace J, Miller B, et al. The Emerging Role of Inhaled Heroin in the Opioid Epidemic: A Review. JAMA Neurol. 2018; 75(11): 1423–1434.
- Konno T, Yoshida K, Mizuno T, et al. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol. 2017; 24(1): 37–45.
- Eichler FS, Li J, Guo Y, et al. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016; 139: 1666–72.
- Mochel F, Delorme C, Czernecki V, et al. Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. J Neurol Neurosurg Psychiatry. 2019; 90(12): 1375–1376.
- Zanin L, Saraceno G, Panciani PP, et al. SARS-CoV-2 can induce brain and spine demyelinating lesions. Acta Neurochir (Wien). 2020; 162(7): 1491–1494.
- Mahammedi A, Saba L, Vagal A, et al. Imaging in Neurological Disease of Hospitalized COVID-19 Patients: An Italian Multicenter Retrospective Observational Study. Radiology. 2020 [Epub ahead of print]: 201933.
- Renaud DL. Adult-Onset Leukoencephalopathies. Continuum (Minneap Minn). 2016; 22(2 Dementia): 559–578.
- Tavazzi E, White MK, Khalili K. Progressive multifocal leukoencephalopathy: clinical and molecular aspects. Rev Med Virol. 2012; 22(1): 18–32.
- McKinney AM, Kieffer SA, Paylor RT, et al. Acute toxic leukoencephalopathy: potential for reversibility clinically and on MRI with diffusion-weighted and FLAIR imaging. AJR Am J Roentgenol. 2009; 193(1): 192–206.
- Lee SY, Dinesh SK, Thomas J. Hypertension-induced reversible posterior leukoencephalopathy syndrome causing obstructive hydrocephalus. J Clin Neurosci. 2008; 15(4): 457–459.
- Garrett LT, Hickman N, Jacobson A, et al. Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool. J Genet Couns. 2016; 25(6): 1146–1156.
- Cloak CC, Ernst T, Fujii L, et al. Lower diffusion in white matter of children with prenatal methamphetamine exposure. Neurology. 2009; 72(24): 2068–2075.
- Donald KA, Roos A, Fouche JP, et al. A study of the effects of prenatal alcohol exposure on white matter microstructural integrity at birth. Acta Neuropsychiatr. 2015; 27(4): 197–205.
- Fryer SL, Schweinsburg BC, Bjorkquist OA, et al. Characterization of white matter microstructure in fetal alcohol spectrum disorders. Alcohol Clin Exp Res. 2009; 33(3): 514–521.
- Lebel C, Warner T, Colby J, et al. White matter microstructure abnormalities and executive function in adolescents with prenatal cocaine exposure. Psychiatry Res. 2013; 213(2): 161–168.
- van der Knaap MS, Breiter SN, Naidu S, et al. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 1999; 213(1): 121–133.
- van der Knaap MS, Valk J, de Neeling N, et al. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology. 1991; 33(6): 478–493.
- Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009; 72(8): 750–759.
- Poyiadji N, Shahin G, Noujaim D, et al. COVID-19-associated Acute Hemorrhagic Necrotizing Encephalopathy: CT and MRI Features. Radiology. ; 2020: 201187.
- Kandemirli SG, Dogan L, Sarikaya ZT, et al. Brain MRI Findings in Patients in the Intensive Care Unit with COVID-19 Infection. Radiology. 2020 [Epub ahead of print]: 201697.
- Fang XJ, Yu M, Wu Y, et al. Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Chin Med J (Engl). 2017; 130(9): 1042–1048.
- Nelis P, Kleffner I, Burg MC, et al. OCT-Angiography reveals reduced vessel density in the deep retinal plexus of CADASIL patients. Sci Rep. 2018; 8(1): 8148.
- Rahmlow M, Shuster EA, Dominik J, et al. Leflunomide-associated progressive multifocal leukoencephalopathy. Arch Neurol. 2008; 65(11): 1538–1539.
- Moriguchi T, Harii N, Goto J, et al. A first case of meningitis/encephalitis associated with SARS-Coronavirus-2. Int J Infect Dis. 2020; 94: 55–58.
- Espinosa PS, Rizvi Z, Sharma P, et al. Neurological Complications of Coronavirus Disease (COVID-19): Encephalopathy. Cureus. 2020; 12(3): e7352.
- Gilkes CE, Love S, Hardie RJ, et al. Brain biopsy in benign neurological disease. J Neurol. 2012; 259(5): 995–1000.
- Koga S, Roemer SF, Kasanuki K, et al. Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS". Parkinsonism Relat Disord. 2019; 68: 79–84.
- Moghekar A, Kraut M, Elkins W, et al. Cerebral white matter disease is associated with Alzheimer pathology in a prospective cohort. Alzheimers Dement. 2012; 8(5 Suppl): S71–S77.
- Rost NS, Sadaghiani S, Biffi A, et al. Setting a gold standard for quantification of leukoaraiosis burden in patients with ischemic stroke: the Atherosclerosis Risk in Communities Study. J Neurosci Methods. 2014; 221: 196–201.
- Gouw AA, Seewann A, Vrenken H, et al. Heterogeneity of white matter hyperintensities in Alzheimer's disease: post-mortem quantitative MRI and neuropathology. Brain. 2008; 131(Pt 12): 3286–3298.
