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22 Possible Causes for Diffuse Hypomyelination, Secondary Optic Atrophy

  • 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]

  • 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]

  • Globoid Cell Leukodystrophy

    Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994;35(3):331–40. PubMed CrossRef Google Scholar 34.[link.springer.com] Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. Neurology. 1995;45(8):1526–32.[link.springer.com]

  • West Syndrome

    Characteristic retinal atrophy with secondary “inverse” optic atrophy identifies vigabatrin toxicity in children. Ophthalmology, 111 (2004), pp. 1935-1942 [25] J.[analesdepediatria.org] 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]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    , arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy.[orpha.net] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[checkorphan.org] In contrast to the neurological abnormalities of XP which are predominantly secondary to neuronal degeneration, in XP/CS complex, dysmyelination typical of CS is observed.[orpha.net]

  • Spastic Ataxia with Congenital Miosis

    Secondary optic atrophy and visual acuity loss are the sequelae of papilledema.[healio.com] MRI shows hypomyelination, as evident from the diffusely elevated T2 white-matter signal.[clinicalgate.com] MRI in PMD shows hypomyelination, indicated by diffusely elevated white-matter signal on T2 ( Figure 71-3A ).[clinicalgate.com]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    The same gene is mutated in neuronal ceroid lipofuscinosis 2 ( CLN2, 204500 ), a far more serious condition with epilepsy, optic atrophy, retinal degeneration, and a rapidly[disorders.eyes.arizona.edu] Hypomyelination with congenital cataracts.[ajnr.org] Genetics This is an autosomal recessive condition secondary to homozygous mutations in TPP1 (11p15).[disorders.eyes.arizona.edu]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    METHODS: Blood samples from the 80 unrelated Japanese patients with bilateral optic atrophy were screened for primary LHON mutations.[thedoctorsdoctor.com] Diffuse hypomyelination. Imaging in MNGIE: Asymptomatic leukoencephalopathy. Prominent leukoencephalopathy in almost all patients. Corpus callosum is usually spared.[clinicaladvisor.com] […] mutations in Japanese patients with Leber's hereditary optic neuropathy (LHON).[thedoctorsdoctor.com]

  • Amaurosis-Hypertrichosis Syndrome

    […] to spherophakia/ectopia lentis and megalocornea Goldmann-Favre syndrome Goniodysgenesis Gonococcal conjunctivitis Gyrate atrophy of choroid and retina HERNS syndrome Helicoid[se-atlas.de] diffuses central nervous system Macular ataxia myoclonies dégénerescence Ataxia myosis congenital Ataxia opsoclonie myoclonie Ataxia pancytopénie Family paroxystic ataxia[wikipedia.qwika.com] PGM3-CDG Locked-in syndrome Corneal hypesthesia, familial Spinocerebellar ataxia 23 Hereditary diffuse leukoencephalopathy with spheroids CADASIL Optic pathway glioma Binswanger's[checkrare.com]

  • Nonketotic Hyperglycinemia

    Symptoms such as leukodystrophy, secondary neurodegeneration after a period of normal development, Leigh disease, optic atrophy, cardiomyopathy and deafness are not part of[brain.oxfordjournals.org] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.es] atrophy GLRX5, BOLA3, LIAS Leigh disease LIAS severely affected patients Cardiomyopathy BOLA3 Both dilated and hypertrophic reported Deafness BOLA3, LIAS Infrequent Elevated[brain.oxfordjournals.org]

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