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106 Possible Causes for Cortical Dysplasia, Diffuse Hypomyelination

  • West Syndrome

    The underlying etiology consisted of lissencephaly, Down's syndrome, and focal cortical dysplasia.[ncbi.nlm.nih.gov] Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[ncbi.nlm.nih.gov] […] encephalopathy, and cortical dysplasia.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] In view of cortical dysplasia with characteristic distribution, cerebellar abnormalities, preserved general configuration of the brain and normal ophthalmologic examination[neurologyindia.com] Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.[ncbi.nlm.nih.gov]

  • Hypomyelinating Leukodystrophy Type 5

    . • Cortical dysplasia  Zellweger syndrome. • Hyperdense thalami  Krabbe’s disease. • Associated Addison disease adrenoleukodystrophy. 16.[slideshare.net] 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] Dysplasia of the head and face is evident, and deformities such as microcephaly, flattened facial features, orbital hypertelorism, heart malformations, syndactyly, deafness[plaza.umin.ac.jp]

  • Polymicrogyria

    Advanced neuroradiologic and neurophysiologic techniques are required to provide an effective and safe resection of the epileptogenic cortex in cortical dysplasias.[ncbi.nlm.nih.gov] Among the more frequently identified are cortical dysplasia, pachygyria, and polymicrogyria. The pathogenesis of these common developmental anomalies remains uncertain.[ncbi.nlm.nih.gov] Twenty-eight (48%) patients additionally had schizencephaly, heterotopia, or focal cortical dysplasia.[ncbi.nlm.nih.gov]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    dysplasia 25799227 NDE1 Lissencephaly with microcephaly (AR), plus deletion a risk factor for generalized epilepsy 21529751 PCDH19 Epilepsy in females with mental retardation[tests.labmed.washington.edu] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] dysplasia With cerebellar hypoplasia Diffuse white matter changes WM changes and cortical dysplasia WM changes and cerebellar hypoplasia Laminin α2 (merosin) 6q2 CMD with[mrineonatalbrain.com]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] dysplasia, complex, with other brain malformations Cortical dysplasia-focal epilepsy syndrome Corticobasal Degeneration, CFL1 related Creatine deficiency syndrome X-linked[qlinics.com] dysplasia - focal epilepsy syndrome Corticobasal degeneration Cowden syndrome Cramp Fasciculation syndrome Craniopharyngioman Craniosynostosis Craniosynostosis - Dandy-Walker[sanfordresearch.org]

  • Congenital Myopathy with Excess of Thin Filaments

    […] lupus erythematosus Chronic myeloid leukemia Chronic myelomonocytic leukemia Common variable immunodeficiency Congenital mesoblastic nephroma Fibrosarcoma Isolated focal cortical[csbg.cnb.csic.es] MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com] dysplasia type IIb Left ventricular noncompaction Lymphangioleiomyomatosis Tuberous sclerosis Adrenocortical carcinoma B-cell chronic lymphocytic leukemia Congenital dyserythropoietic[csbg.cnb.csic.es]

  • Unverricht-Lundborg Syndrome

    Focal cortical dysplasia can cause specific features such as focal tonic stiffening or focal movements such as head or eye deviation. [9] Lennox-Gastaut syndrome This consists[emedicine.medscape.com] Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray and Grace Yoon, Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated[doi.org] dysplasia, complex, with other brain malformations, type 1 TUBB3 Cortical dysplasia, complex, with other brain malformations, type 5 TUBB2A Cortical dysplasia-focal epilepsy[centogene.com]

  • Spastic Ataxia with Congenital Miosis

    dysplasia Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type II Ito hypomelanosis Jeavons syndrome Joubert syndrome Joubert syndrome and related[se-atlas.de] MRI shows hypomyelination, as evident from the diffusely elevated T2 white-matter signal.[clinicalgate.com] Brain MRI at age 5 months showed mildly dilated and disfigured lateral ventricles, focal cortical dysplasia, and diffusely delayed myelination.[findzebra.com]

  • X-Linked Spastic Paraplegia Type 2

    […] with Dislocation of Radius 1 Cortical Blindness, Retardation, and Postaxial Polydactyly 0 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0 Creases[rgd.mcw.edu] Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity.[rarediseases.info.nih.gov] Hyperextensibility of Fingers and Facial Dysmorphism 0 Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0 Congenital Micromelic Dysplasia[rgd.mcw.edu]

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