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63 Possible Causes for Diffuse Hypomyelination, Juvenile Cataract

  • Congenital Cataract

    Nine other families have been previously reported with dominant congenital/juvenile cataracts and mutations in EPHA2.[ncbi.nlm.nih.gov] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities.[ncbi.nlm.nih.gov] Back to top *Congenital and juvenile cataracts. Ophthalmology, 3rd ed . 2008. **Pediatric cataracts. Textbook of Family Practice, 7th ed. 2007.[allaboutvision.com]

  • Hypomyelinating Leukodystrophy Type 5

    A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet. 2008 Feb;16(2):261-4. Epub 2007 Oct 10.[ghr.nlm.nih.gov] 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] Congenital Cataract, Punctate, Progressive Juvenile-Onset CTRCT4 CACA CCA3 PCC 115700 Genetic Test Registry Cataract 47 Cataract, Juvenile, With Microcornea And Glucosuria[ukgtn.nhs.uk]

  • Cockayne Syndrome

    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]

  • Autosomal Recessive Congenital Cataract 5

    Pande A, Pande J, Asherie N et al. (2000) Molecular basis of a progressive juvenile‐onset hereditary cataract.[els.net] 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] , but also juvenile-onset cataracts.[medsci.org]

  • Ataxia

    Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological[ncbi.nlm.nih.gov] Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016; 86 :1622–6. [ PMC free article : PMC4844237 ] [ PubMed : 27029625 ] La Spada AR.[ncbi.nlm.nih.gov] A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics. 1987 Aug; 18 (3):164–169. [ PubMed ] [ Google Scholar ] 106.[ncbi.nlm.nih.gov]

  • Leukodystrophy

    Most individuals with CTX have been diagnosed as juveniles.[encyclopedia.com] Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994 ; 35: 331 – 40. Google Scholar Crossref ISI 2.[doi.org] His skeletal survey showed diffuse osteopenia. Neuroimaging showed global hypomyelination with bilateral T2-weighted basal ganglia hyperintensities [Figure 2].[annalsofian.org]

  • Autosomal Recessive Deafness 103

    In cere-inous xanthomatosis juvenile cataracts aree presenting symptom, while tendon xantho-n develop later in the third and fourth de-ost patients have low intelligence or[docslide.us] Rapid deterioration following head trauma or febrile illness, infantile to adult onset, diffusely abnormal cerebral white matter Leukodystrophy [ 137, 138 ] L-2-Hydroxyglutaric[cerebellumandataxias.biomedcentral.com] Transient manifestations of pellagra, cerebellar ataxia and psychosis, amino aciduria, early onset Metabolic disorder [ 136 ] Childhood ataxia with central nervous system hypomyelination[cerebellumandataxias.biomedcentral.com]

  • Cataract 35

    […] syndrome ), and Turner's syndrome, and in the case of neurofibromatosis type 2, juvenile cataract on one or both sides may be noted.[en.wikipedia.org] : 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] , juvenile, or metabolic cataracts are characterised by diffuse posterior and/or anterior, subcapsular or cortical ‘snowflake’ opacities.[adc.bmj.com]

  • Spastic Paraplegia

    , hearing loss, and neurodegeneration ALS2 IAHSP amyotrophic lateral sclerosis, juvenile; Primary lateral sclerosis, juvenile AMPD2 * SPG63 pontocerebellar hypoplasia AP4B1[invitae.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] […] paraplegia, Distal hereditary motor neuronopathy AD 16 60 SACS Spastic ataxia, Charlevoix-Saguenay AR 254 262 SETX Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile[blueprintgenetics.com]

  • Paraplegia

    , hearing loss, and neurodegeneration ALS2 IAHSP amyotrophic lateral sclerosis, juvenile; Primary lateral sclerosis, juvenile AMPD2 * SPG63 pontocerebellar hypoplasia AP4B1[invitae.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] […] paraplegia, Distal hereditary motor neuronopathy AD 16 60 SACS Spastic ataxia, Charlevoix-Saguenay AR 254 262 SETX Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile[blueprintgenetics.com]

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