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15 Possible Causes for Diffuse Hypomyelination, Psychomotor Regression in Infants

  • Pelizaeus-Merzbacher Disease

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

  • Fucosidosis

    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] Magnetic resonance imaging (MRI) brain revealed features of hypomyelination with diffuse T2-weighted hyperintensity in subcortical and periventricular cerebral white matter[pediatricneurosciences.com]

  • Presenile Dementia with Bone Cysts

    Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy[nectarmutation.org] Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331-340. (57.)[thefreelibrary.com]

  • Spastic Paraplegia

    Progressive psychomotor regression can be seen.Weakness, loss of vision, and intellectual regression can recognized in some affected individuals.[5].[explainmedicine.com] In SPG2, white matter abnormalities are also typical; they resemble (but to a lesser extent) the diffuse hypomyelination found in the allelic Pelizaeus-Merzbacher disease[scielo.br] […] around the age of one year or fifth decade with slow progression of the disease.Extreme irritability, spasticity, and developmental delay are the recognized features in infant[explainmedicine.com]

  • X-Linked Spastic Paraplegia Type 34

    Progressive psychomotor regression can be seen.Weakness, loss of vision, and intellectual regression can recognized in some affected individuals.[5].[explainmedicine.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] […] around the age of one year or fifth decade with slow progression of the disease.Extreme irritability, spasticity, and developmental delay are the recognized features in infant[explainmedicine.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Progressive psychomotor regression can be seen.Weakness, loss of vision, and intellectual regression can recognized in some affected individuals.[5].[explainmedicine.com] […] central nervous system hypomyelination, (CACH) X-linked AdrenoLeukodystrophy (X-ALD) Zellweger Spectrum: Zellweger Syndrome, Neonatal AdrenoLeukodystrophy, and Infantile[themorganproject.org] Hypomyelination with congenital cataracts.[ajnr.org]

  • Pure Hereditary Spastic Paraplegia

    Progressive psychomotor regression can be seen.Weakness, loss of vision, and intellectual regression can recognized in some affected individuals.[5].[explainmedicine.com] : Diffuse; Progressive Putamen: Small or Absent Head of the caudate: Reduced size Cerebellar atrophy: Especially granular layer Hypomyelinating Leukodystrophy 9 (HLD9) Arginyl-tRNA[neuromuscular.wustl.edu] […] around the age of one year or fifth decade with slow progression of the disease.Extreme irritability, spasticity, and developmental delay are the recognized features in infant[explainmedicine.com]

  • Canavan Disease

    The progressive loss of abilities requiring the coordination of mental and muscular activity (psychomotor regression) and mental retardation also become apparent during infancy[rarediseases.org] […] and cerebellar white matter, overall suggestive of hypomyelination ( Figure 3 ).[ncbi.nlm.nih.gov] Most affected infants do learn to smile, laugh, raise their heads and interact socially.[rarediseases.org]

  • Hereditary Spastic Paraplegia

    Progressive psychomotor regression can be seen.Weakness, loss of vision, and intellectual regression can recognized in some affected individuals.[5].[explainmedicine.com] In SPG2, white matter abnormalities are also typical; they resemble (but to a lesser extent) the diffuse hypomyelination found in the allelic Pelizaeus-Merzbacher disease[scielo.br] […] around the age of one year or fifth decade with slow progression of the disease.Extreme irritability, spasticity, and developmental delay are the recognized features in infant[explainmedicine.com]

  • Sandhoff Disease

    A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented.[ncbi.nlm.nih.gov] He demonstrated changes in the basal ganglia, diffuse asymmetric hypomyelination–dysmyelination syndrome, and cerebral hemiatrophy.[neurologyindia.com]

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