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13 Possible Causes for Decreased Number of Myelinated Fibers (Sural Nerve Biopsy), Photosensitivity

Did you mean: Decreased Number of Myelinated Fibers (Sural Nerve Biopsy, Photosensitivity

  • Acute Intermittent Porphyria

    Photosensitivity may be controlled by avoiding exposure to light. Removal of the spleen is useful in some cases of the erythropoietic type of porphyria.[medical-dictionary.thefreedictionary.com] Open nerve and muscle biopsies showed significantly decreased numbers of myelinated fibers in the sural nerve and atrophy of type I and II fibers in the quadriceps muscle,[doi.org] The presence of fluorescent red cells (fluorocytes) in AIP is probably under-recognized since AIP is a hepatic porphyria and not associated with photosensitivity.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum

    The diagnosis of XP is considered when a young patient presents with marked photosensitivity, xerosis and multiple pigmented lesions.[doi.org] (D) Representative image of sural nerve biopsy (embedded in Epon and stained with toluidine blue) from patient 1 demonstrating a decrease in the number of myelinated fibers[ng.neurology.org] Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites.[ncbi.nlm.nih.gov]

  • Autonomic Neuropathy

    Abstract The main aim of the present paper is to examine whether the pupillary light reflex (PLR) mediated by intrinsically photosensitive retinal ganglion cells (ipRGCs)[ncbi.nlm.nih.gov] Pathology Sural nerve biopsy reveals a marked reduction in nerve size and depletion of large and small myelinated fibers but only a slightly decreased number of unmyelinated[ojrd.biomedcentral.com] Although the tendon reflexes are decreased or absent, there is no muscle atrophy or muscle weakness.[ojrd.biomedcentral.com]

  • Déjerine-Sottas Disease

    601675 Xeroderma pigmentosum, group D 278730 E RCC3 2q14.3 Trichothiodystrophy 2, photosensitive 616390 Xeroderma pigmentosum, group B 610651 E RCC4 16p13.12 Fanconi anemia[institutobernabeu.com] 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] […] myoclonic 2A (Lafora) 254780 E RBB3 12q13.2 Lethal congenital contractural syndrome 2 607598 E RCC2 19q13.32 Cerebrooculofacioskeletal syndrome 2 610756 Trichothiodystrophy 1, photosensitive[institutobernabeu.com]

  • Dysautonomia

    Rogers Stevenson syndrome * Cushing syndrome, familial * Cushing's symphalangism * Cutaneous anthrax * Cutaneous larva migrans * Cutaneous lupus erythematosus * Cutaneous photosensitivity[medicalgeek.com] .: Sural nerve biopsy from a CMT1A case.[tankonyvtar.hu] The number of thick myelinated fibers decreased significantly, while concentric "onion bulb structure" is seen around the remaining fibers.[tankonyvtar.hu]

  • GM2-Gangliosidosis Variant AB

    Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity[books.google.it] Muscle biopsy shows signs of neurogenic atrophy with type grouping and increased connective tissue. Sural nerve biopsy demonstrates decreased fiber density.[78stepshealth.us] A histogram of counted nerve fibers shows a decrease in the number of large myelinated fibers and an increase in small myelinated fibers, indicating active regeneration.[78stepshealth.us]

  • Xeroderma Pigmentosum Complementation Group F

    Hautarzt 32:67–74 Google Scholar Calderon R, Gonzalez-Cantú N (1979) Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non-progressive mental retardation.[link.springer.com] (D) Representative image of sural nerve biopsy (embedded in Epon and stained with toluidine blue) from patient 1 demonstrating a decrease in the number of myelinated fibers[ng.neurology.org] We report an 18-year-old Japanese woman who had mild photosensitivity and a facial tumour, which was shown to be a morphoeic basal cell carcinoma.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum Complementation Group B

    Defects in XPB are also a cause of trichothiodystrophy photosensitive (TTDP) [ PMID: 9012405 ].[ebi.ac.uk] (D) Representative image of sural nerve biopsy (embedded in Epon and stained with toluidine blue) from patient 1 demonstrating a decrease in the number of myelinated fibers[ng.neurology.org] Inactivation of the NER pathway can result in the classic phenotype of XP, while inactivation of transcription can lead to photosensitivity phenotype like XP, CS and TTD.[ashg.org]

  • Congenital Autosomal Dominant Indifference to Pain

    Progeroid short stature with pigmented nevi Michels Caskey syndrome Acrofacial dysostosis Catania type Colpocephaly Peutz-Jeghers syndrome Degos disease Hair defect with photosensitivity[checkrare.com] Pathologically, HSAN II demonstrates a virtual absence of myelinated fibers and a decreased number of unmyelinated fibers in sural nerve biopsies ( table 1 ).[anesthesiology.pubs.asahq.org] Syndrome 2 4 Treacher Collins syndrome 3 4 Tricho-Dento-Osseous Syndrome 1 Trichorhinophalangeal Dysplasia Type I 1 Trichorhinophalangeal Syndrome Type 3 2 Trichothiodystrophy Photosensitive[preventiongenetics.com]

  • Combined Oxidative Phosphorylation Deficiency 15

    601675 Xeroderma pigmentosum, group D 278730 E RCC3 2q14.3 Trichothiodystrophy 2, photosensitive 616390 Xeroderma pigmentosum, group B 610651 E RCC4 16p13.12 Fanconi anemia[institutobernabeu.com] The 2 sural nerve biopsies showed markedly reduced numbers of myelinated fibers accompanied by numerous small myelinated fiber clusters, suggesting regeneration.[ng.neurology.org] […] myoclonic 2A (Lafora) 254780 E RBB3 12q13.2 Lethal congenital contractural syndrome 2 607598 E RCC2 19q13.32 Cerebrooculofacioskeletal syndrome 2 610756 Trichothiodystrophy 1, photosensitive[institutobernabeu.com]

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