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38 Possible Causes for Vacuolizing Myelinopathy

  • Nonketotic Hyperglycinemia

    These lesions are in the myelinated tracts of the neonate and are compatible with the expected sites of abnormality in vacuolating myelinopathy.[ncbi.nlm.nih.gov] At 3 weeks areas that are normally myelinated at this time showed increased T2-signal intensity and restricted diffusion, consistent with vacuolating myelinopathy.[ncbi.nlm.nih.gov] The underlying pathology consists of vacuolating myelinopathy that involves formed myelin sheaths with subsequent injury to the regions of expected normal myelination.[em-consulte.com]

  • Early Infantile Epileptic Encephalopathy Type 3

    Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Defect Type 14

    In vacuolating myelinopathy water is probably trapped within vacuoles between the myelin sheet layers, leading to isotropically restricted water diffusion.[mrineonatalbrain.com] The white matter pathology is vacuolating myelinopathy, seen mainly in the KSS. The most common mitochondrial disorders are listed below.[neuropathology-web.org] This explains the markedly increased signal intensities in areas of active vacuolating myelinopathy on diffusion-weighted images in MSUD ( Fig. 17.15 ).[mrineonatalbrain.com]

  • Atypical Glycine Encephalopathy

    myelinopathy is the pathology behind GE. [13] In our case, MRI brain showed mild thinning of posterior part of the body of corpus callosum and proton MR spectroscopy reveals[pediatricneurosciences.com] Brain malformations such as agenesis of corpus callosum, gyral malformation, posterior fossa cysts, and ventricular enlargement may be evident in MRI brain. [11] , [12] Vacuolating[pediatricneurosciences.com]

  • Combined Oxidative Phosphorylation Defect Type 8

    The white matter pathology is vacuolating myelinopathy, seen mainly in the KSS. The most common mitochondrial disorders are listed below.[neuropathology-web.org] Gray matter lesions consist of hypoxic-ischemic neuronal changes affecting individual or groups of neurons (MELAS), neuronal loss (MERFF), and a vacuolization and vascular[neuropathology-web.org]

  • Congenital Bilateral Megacalycosis

    Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy. Brain & Development.34(2):151-155.[gooa.las.ac.cn]

  • Neonatal Adrenoleukodystrophy

    In vacuolating myelinopathy water is probably trapped within vacuoles between the myelin sheet layers, leading to isotropically restricted water diffusion.[mrineonatalbrain.com] This explains the markedly increased signal intensities in areas of active vacuolating myelinopathy on diffusion-weighted images in MSUD ( Fig. 17.15 ).[mrineonatalbrain.com] A specific form of brain edema (‘myelin edema’) related to vacuolating (or spongioform) myelinopathy has a peculiar appearance on diffusion-weighted images.[mrineonatalbrain.com]

  • Thalamic Neoplasm

    The high T2 signal was explained by the vacuoles being filled with water. It remained unclear why FASI areas sometimes regress 7 .[radiopaedia.org] Di Paolo et al. published the findings of FASI areas on pathology study as characterized by spongiform myelinopathy or vacuolar change of myelin with no inflammatory reaction[radiopaedia.org]

  • Pseudo-Zellweger Syndrome

    In vacuolating myelinopathy water is probably trapped within vacuoles between the myelin sheet layers, leading to isotropically restricted water diffusion.[mrineonatalbrain.com] This explains the markedly increased signal intensities in areas of active vacuolating myelinopathy on diffusion-weighted images in MSUD ( Fig. 17.15 ).[mrineonatalbrain.com] A specific form of brain edema (‘myelin edema’) related to vacuolating (or spongioform) myelinopathy has a peculiar appearance on diffusion-weighted images.[mrineonatalbrain.com]

  • Alexander Disease

    CD bears some resemblance to the spongy myelinopathy seen in amino acid and organic acid disorders. These vacuoles appear to develop between myelin lamellae.[neuropathology-web.org] SM is caused by vacuoles developing between myelin lamellae. SM is not associated with myelin break down and is not progressive.[neuropathology-web.org] LEUKOENCEPHALOPATHIES AND RELATED WHITE MATTER LESIONS AMINO ACID AND ORGANIC ACID DISORDERS Several amino acid and organic disorders, most notably nonketotic hyperglycinemia, show spongy myelinopathy[neuropathology-web.org]

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