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157 Possible Causes for Diffuse Hypomyelination, Pediatric Disorder

  • Pelizaeus-Merzbacher Disease

    The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates the full range of pediatric disorders diagnosable by modern neuroimaging.[books.google.com] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy.[ncbi.nlm.nih.gov]

  • Pyruvate Carboxylase Deficiency

    Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Pediatr. Res.[ncbi.nlm.nih.gov] 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]

  • Fucosidosis

    Pediatr Radiol 2007;37:1050-2. 8. Sanklecha MU, Kher A, Naik GG, Bharucha BA, Mahajan P. Storage disorders presenting like mucopolysaccharidosis.[pediatricneurosciences.com] 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]

  • Congenital Cataract

    Evaluation of pediatric cataracts and systemic disorders. Curr Opin Ophthalmol. 2011; 22(5):365-79.[invitae.com] 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]

  • Cockayne Syndrome

    As with other pediatric disorders, transition to adult services is problematic, not least because adults with CS are small, and many adult services are ill-equipped to manage[nature.com] 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]

  • Polymicrogyria

    Turk J Pediatr 2018; 60: 229-237.[ncbi.nlm.nih.gov] disorders.[ncbi.nlm.nih.gov] Pediatr Neurol. 1992; 8:299-302.[rarediseases.org]

  • Multiple Carboxylase Deficiency

    Disorders E-2903 168 Measurement of Health Outcomes in Pediatric Neurologic Disorders E-2910 169 The Influence of Computer Resources on Child Neurology E-2918 170 Education[books.google.com] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Pediatrics (1981) [ Pubmed ] Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.[wikigenes.org]

  • Zellweger Syndrome

    Peroxisomal disorders: A newly recognised group of genetic diseases. Eur J Pediatr 1986;144(5):430-40. Gould SJ, Raymond GV, Valle D.[acta.tums.ac.ir] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[ncbi.nlm.nih.gov] PEDBASE.org - The Pediatric Database - Detailed information of ZELLWEGER'S SYNDROME DEFINITION: A disorder of peroxisomes characterized by the congenital absence of functioning[pedbase.org]

  • Globoid Cell Leukodystrophy

    , Pediatric Clinics of North America, 62, 3, (787), (2015).[doi.org] Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994;35(3):331–40. PubMed CrossRef Google Scholar 34.[link.springer.com] Neurodegenerative disorders of childhood. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed.[nlm.nih.gov]

  • Canavan Disease

    Disease Focus: Genetic Disorder Neurological Disorders Pediatrics Grant Application Details Application Title: Developing a therapeutic candidate for Canavan disease using[cirm.ca.gov] […] and cerebellar white matter, overall suggestive of hypomyelination ( Figure 3 ).[ncbi.nlm.nih.gov] Pediatric Radiology: The Requisites. 4th ed. Philadelphia, PA: Elsevier; 2017:chap 8. Elitt CM, Volpe JJ. Degenerative disorders of the newborn.[nlm.nih.gov]

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