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174 Possible Causes for Diffuse Hypomyelination

  • Hypomyelinating Leukodystrophy Type 5

    Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[ncbi.nlm.nih.gov] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[ajnr.org] Neuroimaging studies demonstrated a diffuse supratentorial hypomyelination, with in some patients, additional areas of more prominent signal change in the frontal region.[ncbi.nlm.nih.gov]

  • Pelizaeus-Merzbacher Disease

    Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] Magnetic resonance imaging (MRI) of the brain had classical features of diffuse hypomyelination which is characteristic of PMD for this age group.[jpma.org.pk] A repeat brain MRI at 33 months of age confirmed the diffuse hypomyelinating pattern of the supratentorial cerebral white matter ( Figure 1B ).[omicsonline.org]

  • West Syndrome

    Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[ncbi.nlm.nih.gov] Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and[ncbi.nlm.nih.gov]

  • Unverricht-Lundborg Syndrome

    Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray and Grace Yoon, Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated[doi.org]

  • Pyruvate Carboxylase Deficiency

    Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[ncbi.nlm.nih.gov] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.com]

  • Fucosidosis

    MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] . • Typical MRI features combine bilateral globi pallidi hyperintensity on T1-weighted images that are hypointense on T2-weighted images with diffuse hypomyelination. • Proton[medlink.com] Magnetic resonance imaging (MRI) brain revealed features of hypomyelination with diffuse T2-weighted hyperintensity in subcortical and periventricular cerebral white matter[pediatricneurosciences.com]

  • Congenital Cataract

    Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities.[ncbi.nlm.nih.gov] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[ajnr.org] Axial T2-weighted images at age 6 years show preserved myelination in the cerebellum (asterisks [A]) and diffuse hypomyelination supratentorially (B-D); notice, in particular[jamanetwork.com]

  • X-Linked Spastic Paraplegia Type 2

    Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity.[rarediseases.info.nih.gov] Other MR techniques, including MR spectroscopy and diffusion tensor imaging are useful in the diagnosis of the disease.[rarediseases.info.nih.gov]

  • Cockayne Syndrome

    Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com] Patients with MEB show cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and cerebellar vermian[neurologyindia.com]

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