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739 Possible Causes for Delayed Myelination

  • Cerebellar Hypoplasia and Atrophy

    delayed myelination [12] Pontine and cerebellar hypoplasia is also observed in certain phenotypes of X-linked mental retardation – so called MICPCH .[] Myelination was delayed in two boys. The brain stem and basal ganglia remained intact.[] […] psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum , and delayed myelination[]

  • Malignant Migrating Partial Seizures of Infancy

    We also report novel brain imaging findings including delayed myelination with white matter hyperintensity on brain magnetic resonance imaging in one-third of the cohort,[] Five demonstrated delayed myelination with T 2 hyperintensity of the deep white matter in four.[] Consequently, it is possible that if brain MRI had been performed later, after the age at which myelination should be complete, cerebral atrophy or delayed myelination, or[]

  • Methylmalonic Acidemia with Homocystinuria Type cblX

    Neurological symptoms are due to diffuse encephalopathy, delayed myelination, and cerebral atrophy, which are conditions that may be verified by means of diagnostic imaging[]

  • Beta-Ureidopropionase Deficiency

    delayed myelination in magnetic resonance imaging studies.[] [HPO:curators] Show HP:0002133 Status epilepticus Show HP:0002167 Neurological speech impairment Show HP:0002188 Delayed myelination Show HP:0002521 Hypsarrhythmia "Hypsarrhythmia[] MRI at 2 years showed dilated ventricles, prominent cortical sulci and incomplete myelination.[]

  • 10q22.3q23.3 Microdeletion Syndrome

    myelination Esotropia Cortical visual impairment Epileptic encephalopathy CNS hypomyelination Deep philtrum Precocious puberty Broad-based gait Myopathic facies Round ear[] Short 5th finger Sparse eyebrow Hypoplasia of the maxilla Motor delay Recurrent fractures Blue sclerae Large fontanelles Bowing of the long bones Congenital hip dislocation[] Visual impairment Facial asymmetry Respiratory insufficiency Encephalopathy Myoclonus High forehead Telecanthus Anxiety Apnea Dolichocephaly Unsteady gait Overlapping toe Delayed[]

  • Biotinidase Deficiency

    White matter abnormalities included delayed myelination but, in some patients, the increased signal was too great to be explained just by failure of myelination.[] Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination.[]

  • Congenital Muscular Dystrophy

    However, the issue of whether the radiological findings of white-matter lesions represent delayed myelination, demyelination or other problems remains controversial.[] myelination. [3] Various degrees of ventriculomegaly and hypoplasia of the pons can be seen sometimes. [3] , [4] Cerebellar polymicrogyria depicted as disorganized cerebellar[] […] involvement in some, whereas the latter involves the temporo-occipital lobes. [4] Most patients show prolonged T1 and T2 signal in the white matter, which is thought to be due to delayed[]

  • Ring Chromosome 4

    Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies.[]

  • Congenital Myasthenic Syndrome

    […] with delayed myelination and signs of hypoxic-ischemic injury in brain imaging.[] […] patient 2), the male patient (patient 1) experienced recurrent and severe episodes of apnea despite adequate treatment with AChE-inhibitors and shows a global developmental delay[]

  • Propionic Acidemia

    Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy.[] MRI in the infan-tile form shows delayed myelination or lack of normal myelination in the thalami, brainstem, and cerebellum [22].[] MRI shows severely delayed myelination and progres-sive atrophy and even disappearance of the caudate and putamen. The globus pallidus and thalamus remain normal.[]

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