scholarly journals A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD

2019 ◽  
Vol 10 ◽  
Author(s):  
Kaloyan R. Stoychev ◽  
Maya Stoimenova-Popova ◽  
Petranka Chumpalova ◽  
Lilia Ilieva ◽  
Mohamed Swamad ◽  
...  
2011 ◽  
Vol 496 (1) ◽  
pp. 40-42 ◽  
Author(s):  
Anna Antonell ◽  
Mircea Balasa ◽  
Rafael Oliva ◽  
Albert Lladó ◽  
Beatriz Bosch ◽  
...  

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  

2020 ◽  
Vol 92 (7) ◽  
pp. 104-108
Author(s):  
P. A. Lebedev ◽  
E. V. Paranina ◽  
V. A. Rossiyev ◽  
E. Y. Fedorova ◽  
A. S. Nikolaeva

POEMS syndrome is a rare paraneoplastic syndrome whose name is an acronym formed from the initial letters of the names of the symptoms originally used to determine it: polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes. Due to the rarity of the disease and the small number of cases described in the literature, its diagnosis is difficult. The average time from onset of symptoms to diagnosis is 18 months. Moreover, the prognosis of the disease depends on the early onset of specific treatment. The article describes a clinical case of POEMS-syndrome in a 53-year-old man, which illustrates the difficulties associated with the timely recognition of this unusual disease.


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