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153 Possible Causes for Diffuse Hypomyelination, Microcephaly

  • West Syndrome

    A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia.[ncbi.nlm.nih.gov] Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[ncbi.nlm.nih.gov] The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs.[ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration.[ncbi.nlm.nih.gov] 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]

  • Hypomyelinating Leukodystrophy Type 5

    Some authorities consider that it should be regarded as a form of cortical degeneration because of the presence of microcephaly and brainwave abnormalities.[plaza.umin.ac.jp] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[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]

  • Congenital Muscular Dystrophy

    In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations.[ncbi.nlm.nih.gov] Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly[ncbi.nlm.nih.gov]

  • Ring Chromosome 18

    As an example of this rare condition, we present a case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic[ncbi.nlm.nih.gov] hypomyelination.[ncbi.nlm.nih.gov] The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.[ncbi.nlm.nih.gov]

  • Phenylketonuria

    None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis.[ncbi.nlm.nih.gov] […] and edema 6 ) atrophy and compensatory ventricular dilatation may occur eventually DWI: reduced diffusion in acutely affected areas 4 MR spectroscopy: phenylalanine peak[radiopaedia.org] Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental retardation, heart problems, small head size (microcephaly[genome.gov]

  • Polymicrogyria

    MalaCards based summary : Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome An important gene associated with Microcephaly-Polymicrogyria-Corpus Callosum Agenesis[malacards.org] JENNIE E MURRAY and ANDREW P JACKSON, Exploring microcephaly and human brain evolution, Developmental Medicine & Child Neurology, 54, 7, (580), (2012).[doi.org] Neurological features include motor and cognitive impairment, epilepsy, microcephaly and spasticity.[ncbi.nlm.nih.gov]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures.[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] Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1.[moldiag.com]

  • Bonnemann-Meinecke-Reich Syndrome

    Bonnemann-Meinecke-Reich syndrome (BMRS), also known as encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration, is a rare congenital[symptoma.com] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.es] Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 57 Encephalopathy Intracranial Calcification Growth Hormone Deficiency Microcephaly[malacards.org]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Visual field defect Delayed speech and language development Optic neuropathy Sensory ataxia Episodic ataxia Abnormal chorioretinal morphology Hyporeflexia Truncal ataxia Microcephaly[mendelian.co] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Infantile onset Cerebellar atrophy Cerebral atrophy Delayed speech and language development Mental deterioration Cognitive impairment Rare Symptoms - Less than 30% cases Microcephaly[mendelian.co]

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