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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.[] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[] Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy.[]

  • Pyruvate Carboxylase Deficiency

    Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Pediatr. Res.[] Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[]

  • Fucosidosis

    Pediatr Radiol 2007;37:1050-2. 8. Sanklecha MU, Kher A, Naik GG, Bharucha BA, Mahajan P. Storage disorders presenting like mucopolysaccharidosis.[] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[] . • Typical MRI features combine bilateral globi pallidi hyperintensity on T1-weighted images that are hypointense on T2-weighted images with diffuse hypomyelination. • Proton[]

  • Congenital Cataract

    Evaluation of pediatric cataracts and systemic disorders. Curr Opin Ophthalmol. 2011; 22(5):365-79.[] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities.[] 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[]

  • 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[] 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.[]

  • Polymicrogyria

    Turk J Pediatr 2018; 60: 229-237.[] disorders.[] Pediatr Neurol. 1992; 8:299-302.[]

  • 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[] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[] Pediatrics (1981) [ Pubmed ] Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.[]

  • 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.[] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[] - The Pediatric Database - Detailed information of ZELLWEGER'S SYNDROME DEFINITION: A disorder of peroxisomes characterized by the congenital absence of functioning[]

  • Globoid Cell Leukodystrophy

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

  • Canavan Disease

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

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