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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,[] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[] impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating[]

  • Cockayne Syndrome

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

  • Neonatal Adrenoleukodystrophy

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

  • Leukodystrophy

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

  • Congenital Muscular Dystrophy

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

  • Zellweger Syndrome

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

  • Woodhouse Sakati Syndrome

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

  • Autosomal Recessive Deafness 103

    For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered.[] Rapid deterioration following head trauma or febrile illness, infantile to adult onset, diffusely abnormal cerebral white matter Leukodystrophy [ 137, 138 ] L-2-Hydroxyglutaric[] 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[]

  • Autosomal Recessive Deafness 76

    DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15.[] Rapid deterioration following head trauma or febrile illness, infantile to adult onset, diffusely abnormal cerebral white matter Leukodystrophy [ 137, 138 ] L-2-Hydroxyglutaric[] DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age.[]

  • Canavan Disease

    impairment Multifocal cystic and calcified white matter lesions, temporal cysts Genetic analysis None Mitochondrial DNA Depletion Syndrome MT-TK2, POLG1 Seizures, hepatorenal[] 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[] […] and cerebellar white matter, overall suggestive of hypomyelination ( Figure 3 ).[]

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