Document Detail

A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report.
MedLine Citation:
PMID:  25471118     Owner:  NLM     Status:  Publisher    
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: pGlu54Gly).
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.
Anne Schänzer; Christoph Kimmich; Christoph Röcken; Thomas Haverkamp; Isabell Weidner; Till Acker; Heidrun H Krämer
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-12-4
Journal Detail:
Title:  Journal of medical case reports     Volume:  8     ISSN:  1752-1947     ISO Abbreviation:  J Med Case Rep     Publication Date:  2014 Dec 
Date Detail:
Created Date:  2014-12-4     Completed Date:  -     Revised Date:  2014-12-5    
Medline Journal Info:
Nlm Unique ID:  101293382     Medline TA:  J Med Case Rep     Country:  -    
Other Details:
Languages:  ENG     Pagination:  403     Citation Subset:  -    
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