Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Wolf, Nicole I.; Harting, Inga; Boltshauser, Eugen; Wiegand, Gert; Koch, Matthias; Schmitt‐Mechelke, Thomas; Martin, E.; Zschocke, Johannes; Uhlenberg, Birgit; Hoffmann, G. F.; Weber, Lutz T.; Ebinger, Friedrich; Rating, D.

doi:10.1212/01.wnl.0000158615.56071.e3

Cited by 77 publications

(65 citation statements)

References 9 publications

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“…Systematic MRI pattern rec- ognition is important for research purposes, especially for the definition of novel disorders or description of phenotypic variation. 3,[5][6][7][8][9][10][11][12] For routine practice, the main lines of MRI pattern recognition suffice. They help to establish a reasonably short differential diagnosis.…”

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confidence: 99%

“…In disorders typically associated with peripheral nerve involvement, such as hypomyelination with congenital cataract and hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H syndrome), a peripheral neuropathy is inconstant or may be associated with normal nerve conduction velocity. 10,11,12 Peripheral nerve involvement may occasionally be observed in disorders not typically associated with a peripheral neuropathy, such as Pelizaeus-Merzbacher disease. 24 The DNA repair disorders trichothiodystrophy and Cockayne syndrome are invariably characterized by marked hypersensitivity of the skin to sunlight.…”

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“…25 In 4H syndrome, delayed, deficient, and abnormal dentition is an early feature. 11,12 Hypogonadotropic hypogonadism leads to the absence of normal puberty at a later stage. 12 Finally, it should be noted that the cause of hypomyelination presently remains unknown in many patients.…”

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confidence: 99%

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Schiffmann¹,

Knaap²

2009

Neurology

505

429

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Background:There are many different white matter disorders, both inherited and acquired, and consequently the diagnostic process is difficult. Establishing a specific diagnosis is often delayed at great emotional and financial costs. The pattern of brain structures involved, as visualized by MRI, has proven to often have a high diagnostic specificity. Methods:We developed a comprehensive practical algorithm that relies mainly on the characteristics of brain MRI. Results:The initial decision point defines a hypomyelination pattern, in which the cerebral white matter is hyperintense (normal), isointense, or slightly hypointense relative to the cortex on T1-weighted images, vs other pathologies with more prominent hypointensity of the cerebral white matter on T1-weighted images. In all types of pathology, the affected white matter is hyperintense on T2-weighted images, but, as a rule, the T2 hyperintensity is less marked in hypomyelination than in other pathologies. Some hypomyelinating disorders are typically associated with peripheral nerve involvement, while others are not. Lesions in patients with pathologies other than hypomyelination can be either confluent or isolated and multifocal. Among the diseases with confluent lesions, the distribution of the abnormalities is of high diagnostic value. Additional MRI features, such as white matter rarefaction, the presence of cysts, contrast enhancement, and the presence of calcifications, further narrow the diagnostic possibilities. White matter disorders or leukoencephalopathies comprise all disorders that exclusively or predominantly affect the white matter of the brain. Leukodystrophies are genetically determined leukoencephalopathies. There are many different leukoencephalopathies, which can occur at all ages, be progressive or static, and be genetic or acquired. Conclusion:1,2 The diagnostic workup is complicated. Many tests are performed, at high financial and emotional costs and often with disappointing results. 3MRI has proven to be pivotal in the diagnostic workup of patients with leukoencephalopathies.2 First, the presence of white matter abnormalities is usually established with MRI. CT may show white matter hypodensity, but it is much less sensitive than MRI and gives no details. Secondly, it has been shown repeatedly that individual leukoencephalopathies present themselves with distinct patterns of MRI abnormalities, which are homogeneous among patients with the same disorder and different in patients with different disorders, indicating the high diagnostic value of MRI patterns.

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Schiffmann¹,

Knaap²

2009

Neurology

505

429

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Section: Neuroimaging and The Diagnosis Of A Leukodystrophymentioning

confidence: 99%

Childhood leukodystrophies: a clinical perspective

Kohlschütter¹,

Eichler²

2011

Expert Review of Neurotherapeutics

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“…In addition, one patient had an increase in MI concentration, pointing to gliosis and astrocytic proliferation (50). The MR spectra of patients with 4H-Syndrome, a rare form of hypomyelinating leukodystrophy, reveals low Cho/Cr and NAA/Cr, while a prominent MI peak can be observed (51,52). Low Cho levels are indicative of hypomyelination due to decreased membrane synthesis and turnover.…”

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confidence: 99%