scholarly journals Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Ju Zou ◽  
Ying-Hao Wang ◽  
Ling Wang ◽  
Ruo-Chan Chen

Background: Wilson's disease (WD) is a rare condition; its diagnosis is challenging owing to a wide spectrum of ATP7B genotypes and variable clinical phenotypes, along with environmental factors. Few cases of WD with presentation of skin lesions and acute neurovisceral symptoms have been reported in the literature. To our knowledge, this is the first reported case of WD with an uncommon ATP7B gene mutation and rare symptoms of photosensitivity, sensation abnormality, and skin eruption occurring in a 19-year-old woman.Case presentation: We report the case of a 19-year-old woman with WD presenting with liver failure, skin manifestations, and acute neurovisceral symptoms.The rare mutation in intron 1 of ATP7B (c.51+2T > G) was further confirmed by gene sequencing. The patients' symptoms improved after administration of penicillamine and zinc therapy combined with plasma exchange. She received long-term penicillamine treatment, and her liver function was within the normal range at 1 year after discharge. However, she underwent liver transplantation at 1.5 years after discharge.Conclusions: We present a case of WD with a novel ATP7B gene mutation that may serve as a reference to generalists and specialists in hepatology or neurology of the rare clinical characteristics of WD, to prevent misdiagnosis and aid in the early diagnosis and treatment of the condition.

2015 ◽  
Vol 2015 ◽  
pp. 1-2
Author(s):  
Krishnaveni Nayini ◽  
Clive Gie

Introduction. Tubocutaneous fistula is a very rare condition; most cases described in the literature are secondary to endometriosis, tuberculosis, and complications of child birth and gynecological operations.Case Presentation. We report a case of 40-year-old woman who presented with tubocutaneous fistula secondary to pelvic inflammatory disease which was diagnosed in the setting of persistent discharging wound in the right groin.Conclusion. Tubocutaneous fistula is a rare condition. Salpingectomy and resection of fistulous tract is the treatment of choice as is treating the underlying cause. Early diagnosis and treatment of these patients are essential for avoiding long term complications.


1989 ◽  
Vol 29 (6) ◽  
pp. 301-305 ◽  
Author(s):  
Hans Bachmann ◽  
Joachim Lössner ◽  
Hans-Jürgen Kühn ◽  
Dietmar Biesold ◽  
Roland Siegemund ◽  
...  

Author(s):  
M. Gillespie ◽  
R. Tadros ◽  
T. Haddad ◽  
J. Lyou ◽  
J. Hanje ◽  
...  

2018 ◽  
Vol 49 ◽  
pp. 48-53 ◽  
Author(s):  
Harald Hefter ◽  
Osman Tezayak ◽  
Dietmar Rosenthal

2008 ◽  
Vol 32 (4) ◽  
pp. 378-381 ◽  
Author(s):  
V. Pabón ◽  
J. Dumortier ◽  
R. Gincul ◽  
J. Baulieux ◽  
C. Ducerf ◽  
...  

1991 ◽  
Vol 13 ◽  
pp. S172
Author(s):  
A. Solinas ◽  
A. Deplano ◽  
A. Tocco ◽  
P.A. Cossu ◽  
G. Posadinu ◽  
...  

Gene ◽  
2015 ◽  
Vol 569 (2) ◽  
pp. 276-279 ◽  
Author(s):  
Eva Mameli ◽  
Maria Barbara Lepori ◽  
Francesca Chiappe ◽  
Giusy Ranucci ◽  
Fabiola Di Dato ◽  
...  

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