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

  • Cockayne Syndrome

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

  • Globoid Cell Leukodystrophy

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

  • West Syndrome

    Characteristic retinal atrophy with secondary “inverse” optic atrophy identifies vigabatrin toxicity in children. Ophthalmology, 111 (2004), pp. 1935-1942 [25] J.[] Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[] Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and[]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    , arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy.[] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[] 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.[]

  • Spastic Ataxia with Congenital Miosis

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

  • 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[] Hypomyelination with congenital cataracts.[] Genetics This is an autosomal recessive condition secondary to homozygous mutations in TPP1 (11p15).[]

  • 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.[] Diffuse hypomyelination. Imaging in MNGIE: Asymptomatic leukoencephalopathy. Prominent leukoencephalopathy in almost all patients. Corpus callosum is usually spared.[] […] mutations in Japanese patients with Leber's hereditary optic neuropathy (LHON).[]

  • Amaurosis-Hypertrichosis Syndrome

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

  • 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[] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[] atrophy GLRX5, BOLA3, LIAS Leigh disease LIAS severely affected patients Cardiomyopathy BOLA3 Both dilated and hypertrophic reported Deafness BOLA3, LIAS Infrequent Elevated[]

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