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57 Possible Causes for Hypomyelination on Nerve Biopsy

  • Peripheral Neuropathy

    Nerve conduction studies demonstrated an asymmetric demyelinating-type peripheral neuropathy, and sural nerve biopsy documented reduced myelinated nerve fiber density with[ncbi.nlm.nih.gov] […] uniformly thin myelin sheaths, suggesting hypomyelination.[ncbi.nlm.nih.gov]

  • Hypomyelinating Leukodystrophy Type 5

    Sural nerve biopsy revealed hypomyelinated nerve fibers.[ncbi.nlm.nih.gov] METHODS: We performed neurological examination, neurophysiological, neuroimaging, and neuropathological studies on sural nerve biopsy in 10 hypomyelination and congenital[ncbi.nlm.nih.gov] […] on both brain MR imaging and nerve biopsy findings in this series.[ajnr.org]

  • Hypogonadotropic Hypogonadism

    The literature suggests that abnormal findings upon sural nerve biopsy may indicate peripheral hypomyelination, even in the absence of clinically and physiologically evident[ncbi.nlm.nih.gov] A sural nerve biopsy of this patient was normal, and this finding is further discussed.[ncbi.nlm.nih.gov] Brain magnetic resonance imaging showed hypomyelinated white matter, cerebellar atrophy, and a thin corpus callosum.[ncbi.nlm.nih.gov]

  • Déjerine-Sottas Disease

    A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[ncbi.nlm.nih.gov] Sural nerve biopsy specimens show hypomyelination, classic onion bulbs composed of whorls of Schwann cell processes that are characteristic of Dejerine-Sottas disease (5)[ajnr.org] Motor and sensory nerve conduction studies showed absent motor and sensory responses on electrical stimulation of the limb nerves.[ncbi.nlm.nih.gov]

  • Ataxia

    Sural nerve biopsy shows debris-lined myelin clefts, vacuolar disruption, and loss of normal myelin periodicity. Table 7.[emedicine.medscape.com] […] progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination[emedicine.medscape.com]

  • Autosomal Recessive Congenital Cataract 5

    Sural nerve biopsy revealed hypomyelinated nerve fibers.[ajnr.org] […] on both brain MR imaging and nerve biopsy findings in this series.[ajnr.org] Deep cerebellar white matter hypomyelination was found in 6 patients. Older patients had evidence of white matter bulk loss and gliosis.[ajnr.org]

  • Hereditary Motor and Sensory Neuropathy

    Motor nerve conduction velocities are extremely slow, and nerve biopsy shows partial hypomyelination with atypical onion-bulb formation.[healio.com] In this form, sural nerve biopsy shows a lack of large myelinated fibers, and motor nerve conduction velocities are only moderately slowed.[healio.com] In other types of congenital hypomyelination neuropathy, clinical manifestations are variable.[healio.com]

  • Congenital Cataract

    Sural nerve biopsy revealed hypomyelinated nerve fibers.[ajnr.org] Neuropathological evidence of primary hypomyelination is provided by nerve biopsy studies, showing also a superimposed demyelination/remyelination and axonal degeneration[ojrd.biomedcentral.com] […] on both brain MR imaging and nerve biopsy findings in this series.[ajnr.org]

  • Spinocerebellar Ataxia Type 6

    Sural nerve biopsy shows debris-lined myelin clefts, vacuolar disruption, and loss of normal myelin periodicity. Table 7.[emedicine.com] […] progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination[emedicine.com]

  • Spinocerebellar Ataxia Type 13

    Sural nerve biopsy shows debris-lined myelin clefts, vacuolar disruption, and loss of normal myelin periodicity. Table 7.[emedicine.com] […] progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination[emedicine.com]

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