A Case with Hereditary Neuropathy with Liability to Pressure Palsy

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dc.contributor.authorDag, Ersel
dc.contributor.authorInal, Elem
dc.contributor.authorTurkel, Yakup
dc.contributor.authorGokce, Nalan
dc.contributor.authorOrkun, Sevim
dc.date.accessioned2025-01-21T16:34:54Z
dc.date.available2025-01-21T16:34:54Z
dc.date.issued2013
dc.departmentKırıkkale Üniversitesi
dc.description.abstractHereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease which characterized by recurrent mononeuropathies with focal sensory or motor disturbance precipitated by minor trauma or compression. Clinically, it generally presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We reported a case study of a 22 year-old female who presenting with low back pain, After detection of an Achilles reflex loss in her neurological examination and electrophysiological studies and genetic investigation was done than she diagnosed with HNPP. We want to emphasize that, the diagnosis of hereditary neuropathy with liability to pressure palsy is often delayed because it is rare in the practice of medicine and confused with polyneuropathy, careful neurological examination may be the most important factor in the diagnosis.
dc.identifier.doi10.4328/JCAM.1869
dc.identifier.endpage12
dc.identifier.issn1309-0720
dc.identifier.issn1309-2014
dc.identifier.startpage10
dc.identifier.urihttps://doi.org/10.4328/JCAM.1869
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24032
dc.identifier.volume4
dc.identifier.wosWOS:000215552600004
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.language.isotr
dc.publisherDerman Medical Publ
dc.relation.ispartofJournal of Clinical and Analytical Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectHereditary Neuropathy with Liability to Pressure Palsy; Mononeuropathy; Peripheral Myelin Protein22
dc.titleA Case with Hereditary Neuropathy with Liability to Pressure Palsy
dc.typeArticle

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