title: A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report
creator: Schänzer, Anne
creator: Kimmich, Christoph
creator: Röcken, Christoph
creator: Haverkamp, Thomas
creator: Weidner, Isabell
creator: Acker, Till
creator: Krämer, Heidrun H.
subject: ddc-610
subject: 610 Medical sciences Medicine
description: Introduction: Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. Diagnosis can be challenging, especially if other family members are not affected or an obvious systemic involvement is lacking. The patients are often misdiagnosed, leading to a delay in the initiation of therapy.   Case presentation: A 35-year-old woman of Turkish origin presented to our outpatient clinic with severe polyneuropathy associated with distally pronounced tetraparesis and hypesthesia of 2 to 3 years’ duration. In addition, small nerve fiber involvement with impaired detection of cold temperatures and tingling pain in the lower legs was reported. She did not complain of autonomic dysfunction or visual disturbance. Her family history was empty regarding neuromuscular disorders. The routine diagnostic work-up was unremarkable. A sural nerve biopsy disclosed amyloid deposits, which led to the identification of a rare heterozygous transthyretin mutation (p.Glu74Gly; old classification: p.Glu54Gly).   Conclusions: Few cases with this very heterozygous mutation can be found in the literature. In contrast to the case of our patient, all of the previously described patients in the literature presented with additional severe autonomic symptoms, involvement of the eyes and a positive family history. In this case report, we emphasize that, in patients with progressive neuropathy with small fiber involvement, an amyloid neuropathy should be considered in the differential diagnosis, even if the family history is empty and other organs are not affected.  
publisher: BioMed Central
date: 2014
type: Article
type: info:eu-repo/semantics/article
type: NonPeerReviewed
format: application/pdf
identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/19436/1/13256_2014_Article_3022.pdf
identifier: DOI:
identifier: urn:nbn:de:bsz:16-heidok-194363
identifier:   Schänzer, Anne ; Kimmich, Christoph ; Röcken, Christoph ; Haverkamp, Thomas ; Weidner, Isabell ; Acker, Till ; Krämer, Heidrun H.  (2014) A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report.  Journal of Medical Case Reports, 8 (403).  pp. 1-4.  ISSN 1752-1947     
relation: https://archiv.ub.uni-heidelberg.de/volltextserver/19436/
rights: info:eu-repo/semantics/openAccess
rights: Please see front page of the work (Sorry, Dublin Core plugin does not recognise license id)
language: eng