Create issue ticket

49 Possible Causes for Nerve Biopsy Shows Hypomyelination

  • Hypomyelinating Leukodystrophy Type 5

    Sural nerve biopsy showed a slight-to-severe reduction in myelinated fiber density, with several axons surrounded by a thin myelin sheath or devoid of myelin.[ncbi.nlm.nih.gov] Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers.[ncbi.nlm.nih.gov] Hypomyelination and mild axonal loss may be seen in peripheral nerve biopsies while neuroimaging shows evidence of diffuse and progressive cerebral white matter atrophy.[disorders.eyes.arizona.edu]

  • Déjerine-Sottas Disease

    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] 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] Nerve conduction studies reveal severe slowing of peripheral nerve conduction, with denervation changes in the associated muscle groups.[ajnr.org]

  • Hypogonadotropic Hypogonadism

    Brain magnetic resonance imaging showed hypomyelinated white matter, cerebellar atrophy, and a thin corpus callosum.[ncbi.nlm.nih.gov] 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]

  • 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]

  • Ataxia

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

  • Spinocerebellar Ataxia Type 6

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

  • Triple A Syndrome

    His sural nerve biopsy showed a moderate loss of myelinated fibers and hypomyelination.[ncbi.nlm.nih.gov]

  • Congenital Cataract

    Neuropathological evidence of primary hypomyelination is provided by nerve biopsy studies, showing also a superimposed demyelination/remyelination and axonal degeneration[ojrd.biomedcentral.com] Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers.[ajnr.org] Sensory action potential values are of normal amplitude, suggesting a relatively uniform degree of slowing of conduction across nerve fibres, consistent with congenital hypomyelination[ojrd.biomedcentral.com]

  • Autosomal Recessive Congenital Cataract 5

    Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers.[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]

Further symptoms