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151 Possible Causes for Diffuse Hypomyelination, Hearing Impairment

  • Fucosidosis

    Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[symptoma.com] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating[rarediseases.info.nih.gov]

  • Cockayne Syndrome

    Clinical features included short stature, cachectic senile look, neurological deterioration, photosensitivity, mental retardation, hearing impairment and carious teeth.[ncbi.nlm.nih.gov] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] We describe a premature, small for gestational age infant girl with micropthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental[ncbi.nlm.nih.gov]

  • Neonatal Adrenoleukodystrophy

    Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound.[orpha.net] (CACH) Childhood Ataxia with Diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease) Craniometaphysical Dysplasia with Leukoencephalopathy Cystic Leukoencephalopathy[huntershope.org] Krabbe Disease) GM1 Gangliosidosis GM2 Gangliosidosis (Tay-Sachs Disease) Hereditary Adult Onset Leukodystrophy Simulating Chronic Progressive Multiple Sclerosis Herditary Diffuse[huntershope.org]

  • Leukodystrophy

    There was no history of impaired cognition, seizures, impaired vision or hearing, night blindness, malabsorption, headache, vomiting, or episodic deterioration.[annalsofian.org] Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994 ; 35: 331 – 40. Google Scholar Crossref ISI 2.[doi.org] The presenting complaints included gait difficulties (7), behavioral abnormalities (7), impaired vision (6), decreased hearing (6), poor school performance (6), seizures ([annalsofian.org]

  • Congenital Muscular Dystrophy

    Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com] Patients with MEB show cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and cerebellar vermian[neurologyindia.com]

  • Zellweger Syndrome

    It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment.[ncbi.nlm.nih.gov] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[ncbi.nlm.nih.gov] Furthermore, Zellweger syndrome causes hearing impairment, profound mental retardation and developmental delay.[ic.steadyhealth.com]

  • Woodhouse Sakati Syndrome

    The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov] Brain MRI showed diffusely increased periven-tricular white matter and centrum semiovale signal intensities onT2 images, suggestive of white matter hypomyelination, but wasotherwise[docslide.com.br] Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus,[ncbi.nlm.nih.gov]

  • Autosomal Recessive Deafness 103

    For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered.[hereditaryhearingloss.org] 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] impairment: the role of the possible mutation of connexin 26in the pathogenesis of the hearing loss; the audiological and clinical aspects of the hear-ing impairment; therapy[vdocuments.site]

  • Autosomal Recessive Deafness 76

    DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15.[ingentaconnect.com] 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] DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age.[uniprot.org]

  • Canavan Disease

    impairment Multifocal cystic and calcified white matter lesions, temporal cysts Genetic analysis None Mitochondrial DNA Depletion Syndrome MT-TK2, POLG1 Seizures, hepatorenal[ncbi.nlm.nih.gov] Usher Syndrome Type 1F is characterized by profound hearing loss which is present at birth, and adolescent-onset retinitis pigmentosa, a disorder that significantly impairs[kveller.com] […] and cerebellar white matter, overall suggestive of hypomyelination ( Figure 3 ).[ncbi.nlm.nih.gov]

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