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dc.contributor.authorDurmus, Hacer
dc.contributor.authorParman, Yesim
dc.contributor.authorKotan, Dilcan
dc.contributor.authorDeymeer, Feza
dc.contributor.authorOflazer, Piraye
dc.contributor.authorCakar, Arman
dc.contributor.authorAtmaca, Murat Mert
dc.date.accessioned2022-07-04T14:50:54Z
dc.date.available2022-07-04T14:50:54Z
dc.date.issued2022
dc.identifier.citationCakar A., Atmaca M. M. , Kotan D., Durmus H., Deymeer F., Oflazer P., Parman Y., "Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis", NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, cilt.59, sa.1, ss.77-79, 2022
dc.identifier.issn1300-0667
dc.identifier.othervv_1032021
dc.identifier.otherav_9058bac3-99d9-465d-aba8-06e354ee6720
dc.identifier.urihttp://hdl.handle.net/20.500.12627/183737
dc.identifier.urihttps://doi.org/10.29399/npa.26124
dc.description.abstractHereditary transthyretin amyloidosis (hATTR) is caused by the mutations of the transthyretin (TTR) gene. Length dependent sensory-motor neuropathy with autonomic involvement is the hallmark of the disease. However, it can manifest with unusual phenotypes. A 53-year-old man presented with progressive weakness in lower limbs and operated for lumbar spinal stenosis. The progression of weakness restarted after two years with the addition of symptoms related to polyneuropathy. Electrodiagnostic studies revealed sensorimotor polyneuropathy with autonomic involvement. Surat nerve biopsy disclosed amyloid deposits. Genetic testing of TTR gene identified Glu89Gln mutation. Two years after the diagnosis, he had another decompressive surgery for lumbar spinal stenosis. Histopathological examination of ligamentum flavum specimens revealed amyloid deposits. During the follow up, he was diagnosed with laryngeal amyloidosis, which is an unusual manifestation. Seven years after the diagnosis, he died due to cardiac complications. Our patient suggested that hATTR with Glu89Gln may present with atypical symptoms. Clinicians should carefully look for hATTR in recurrent lumbar stenosis.
dc.language.isoeng
dc.subjectNeurology (clinical)
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectDahili Tıp Bilimleri
dc.subjectNeurology
dc.subjectNöroloji
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleLumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis
dc.typeMakale
dc.relation.journalNOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume59
dc.identifier.issue1
dc.identifier.startpage77
dc.identifier.endpage79
dc.contributor.firstauthorID3398072


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