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436 Possible Causes for Delayed Myelination

  • Vitamin B12 Deficiency

    The underlying mechanisms may involve delayed myelination or demyelination of nerves; alteration in the S-adenosylmethionine:S-adenosylhomocysteine ratio; imbalance of neurotrophic[] MRI revealed cerebral atrophy and delayed myelination.[] The Brain CT revealed a cerebral atrophy and delayed myelination. Vitamin B12 supply was effective on anaemia and psychomotor delay.[]

  • Allan-Herndon-Dudley Syndrome

    In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis[] We report a patient with Allan-Herndon-Dudley syndrome characterized by developmental delay, hypotonia, and delayed myelination caused by a novel SLC16A2 mutation (p.L291R[] Myelination delay and Allan-Herndon-Dudley syndrome caused by a novel mutation in the SLC16A2 gene. La Piana R. , Vanasse M. , Brais B. , Bernard G.[]

  • Hyperuricemia

    At the age of 23 years MR imaging revealed globally delayed myelination with relative sparing of the corpus callosum and frontal lobes.[]

  • Psychomotor Retardation

    Whole exome sequencing (WES) was performed in siblings with severely delayed myelination and psychomotor retardation.[] […] tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.[] Sequential cerebral MRI at age one and two year(s) respectively revealed frontal accentuated brain atrophy and significantly delayed myelination.[]

  • West Syndrome

    This patient is considered to have had an unusual variant of West syndrome associated with focal delayed myelination.[] MRI revealed cerebral atrophy and delayed myelination.[] myelination as a key factor underlying abnormal findings on DTI.[]

  • Hypomyelination - Congenital Cataract Syndrome

    We report two affected siblings with congenital cataracts, congenital heart defects, prenatal onset ventriculomegaly, progressive microcephaly, severely delayed myelination[] Delayed myelinationDelayed myelination is a non specific finding associated with global developmental delay.[] Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017 ).[]

  • Entrapment Neuropathy

    In the other case, the lesion seemed to be a mild injury to the myelin sheath.[] Delayed segmental conduction velocity and partial conduction block were found at the midarm level.[]

  • Autosomal Recessive Spastic Paraplegia Type 56

    delayed myelination.[] New compound mutations in SPG56 gene – causing complicated HSP with delayed myelination.[] As a rare clinical feature, delayed myelination has previously been reported in only two patients with CYP2U1 mutations.[]

  • Aspartylglucosaminuria

    Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.[] This is consistent with previous magnetic resonance imaging findings in the brains of aspartylglucosaminuria patients, revealing delayed myelination in childhood.[] On MRI, there may be poor differentiation between the gray and white matter, as well as evidence of delayed myelination.[]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    ., Principles of Neurology, 6th ed, p54) Delayed myelination MedGen UID: 224820 • Concept ID: C1277241 • Finding Delayed myelination.[] […] lesions Abnormality of metabolism/homeostasis Sensorineural hearing impairment Poor speech Ataxia CSF lymphocytic pleiocytosis Death in childhood Hemiplegia Poor head control Delayed[] Cerebellar atrophy Hypertonia Encephalopathy Myoclonus Clonus Rare Symptoms - Less than 30% cases Muscle weakness Skeletal muscle atrophy Poor suck Delayed myelination Brain[]

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