2015
DOI: 10.1016/j.ymgme.2014.12.434
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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Abstract: Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority… Show more

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Cited by 177 publications
(177 citation statements)
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“…Recently, a distinct MRI pattern was defined for patients with SDH deficiency-related leukoencephalopathy (Helman et al 2015), with a typical progression of MRI appearance during the course of disease, allowing differentiation from other mitochondrial leukoencephalopathies. It can be added to the list of recognizable MRI patterns, which serve as valuable diagnostic tools in the evaluation of genetic leukoencephalopathies (Schiffmann and van der Knaap 2009;Parikh et al 2015). MRI pathologies of the patients in this study fit into this MRI pattern description, probably corresponding to early or intermediate stage of the disease.…”
Section: Discussionmentioning
confidence: 85%
“…Recently, a distinct MRI pattern was defined for patients with SDH deficiency-related leukoencephalopathy (Helman et al 2015), with a typical progression of MRI appearance during the course of disease, allowing differentiation from other mitochondrial leukoencephalopathies. It can be added to the list of recognizable MRI patterns, which serve as valuable diagnostic tools in the evaluation of genetic leukoencephalopathies (Schiffmann and van der Knaap 2009;Parikh et al 2015). MRI pathologies of the patients in this study fit into this MRI pattern description, probably corresponding to early or intermediate stage of the disease.…”
Section: Discussionmentioning
confidence: 85%
“…Because of the strong heterogeneity of hereditary leukoencephalopathy, it is difficult even for experienced doctors to make a definitive diagnosis, and a multistep process is often needed721. Currently, routine clinical diagnostic tests for leukodystrophy often consist of screening for genes on the basis of ethnic origin, MRI features, family history, personal history and findings from physical examinations22. In China, the problem seems more serious, with the lack of a referral system, many patients and their families wasted valuable time, finances, and medical resources seeing various doctors and getting repeat examinations in search of a correct diagnosis.…”
Section: Discussionmentioning
confidence: 99%
“…Moredetailed reviews of metabolic and genetic white matter disease of children have been recently published (http://www.ncbi.nlm.nih.gov/books/ NBK184570). 25,26 Distinguishing demyelinating disease from these inherited conditions can be challenging, and the MRI appearance can guide further diagnostic studies based on the imaging pattern. Some typical MRI appearances that would raise the consideration of several of these disorders are listed in table 1 and included in the figure.…”
Section: Role Of Mri In Ms Diagnosismentioning
confidence: 99%