scholarly journals Unusual neuromuscular presentation of a Wilson’s disease patient with one-stage surgical correction treatment: A case report

2020 ◽  
Vol 28 (2) ◽  
pp. 230949902093405
Author(s):  
Yi-Chen Lin ◽  
Ing-Ho Chen ◽  
Kai-Chiang Yang ◽  
Chen-Chie Wang

Wilson’s disease (WD), an autosomal recessive disorder of copper metabolism, may develop complex foot and ankle deformity associated with gastrosoleus muscle complex spasticity. In this case report, we present a female WD patient with bilateral equinocavovarus foot deformity in which the right foot deformity was progressed with severe contracture of posteromedial hindfoot structures and manifested as a rigid deformed foot. One-stage correction surgery including modified Lambrinudi arthrodesis, posterior tibialis tendon transfer to the lateral column of the foot, plantar fascia release (Steindler release), and Achilles tendon lengthening procedures was performed. Shortening the treatment period and decreasing possible complications due to multiple procedures are the main benefits of this technique. Although the limitation is that only a single patient was enrolled, this study provides a practical and reasonable surgical procedure with a satisfactory outcome.

2020 ◽  
Author(s):  
ying ma ◽  
Juan zhang ◽  
hong chen ◽  
YUNBAO WANG

Abstract Hepatolenticular degeneration, also known as Wilson's disease, is an autosomal recessive disorder of copper metabolism that causes rare diseases with significant morbidity and mortality. To our knowledge, no cases of hepatolenticular degeneration with massive cerebral infarction have been reported up to now. Here we present a case of hepatolenticular degeneration with massive cerebral infarction. Early, appropriate diagnosis and initiation of proper therapy could avoid further progression and reduce complications of the disease.


2016 ◽  
Vol 13 (1) ◽  
pp. 349-351
Author(s):  
Guoen Cai ◽  
Xinming Huang ◽  
Qinyong Ye ◽  
Wenting Xiong ◽  
Qing Duan

2020 ◽  
Vol 19 (3) ◽  
pp. 149-152
Author(s):  
Ioannis Thanopoulos ◽  
Kalliopi Pappa

Wilson’s disease is a rare inherited autosomal recessive disorder of copper metabolism causing toxic hepatic and neural accumulation. The gene that regulates the disease is located on chromosome 13 (13q14.3). The signs and symptoms of Wilson’s disease vary depending on the organs that are affected by the disease with almost all the patients showing evidence of progressive liver disease. Its severity varies and is strongly associated with the time of diagnosis. In the present case report we present a rare case presenting with Wilson`s disease during pregnancy and review current management options.


Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 336
Author(s):  
Guo-Min Yang ◽  
Rou-Min Wang ◽  
Nan Xia ◽  
Zi-Wei Zheng ◽  
Yi Dong ◽  
...  

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify whether the founder effect may account for their origins. We firstly summarized the frequency and geographical distribution of p.R778L, p.P992L and p.T935M in 715 WD patients. Then, to construct haplotypes associated with the three variants, Sanger sequencing and microsatellite typing at three dinucleotide-repeat markers (D13S314, D13S301, D13S316) flanking the ATP7B gene were performed in 102 WD families. An obvious regional-specific distribution feature was found in p.T935M. Linkage disequilibrium at the three markers was shown in all the three variants and we found the common haplotypes specific for p.R778L, p.P992L and p.T935M respectively, represented successively by 10-7-7, 10-9-5 and 12-4-8, which all exhibited great significance vs. the control chromosomes (p < 0.01). Meanwhile, haplotypes for the three variants differed from the studies in other regions to some extent. The common haplotypes we found indicate that three prevalent pathogenic variants emerge due to the founder effect. Furthermore, the study contributes to expand our knowledge of the genetic diversity of WD from a cross-regional perspective.


2018 ◽  
Vol 8 (1) ◽  
pp. 61-66
Author(s):  
Yoshinosuke Shimamura ◽  
Takuto Maeda ◽  
Yufu Gocho ◽  
Yayoi Ogawa ◽  
Kunihiko Tsuji ◽  
...  

1966 ◽  
Vol 1 (1) ◽  
pp. 54-54
Author(s):  
H. Takasaki ◽  
S. Murata ◽  
K. Saiki ◽  
Y. Kosaka ◽  
N. Ikeda ◽  
...  

Author(s):  
Harharpreet Kaur ◽  
Kiranjit Kaur ◽  
Navneet Sharma ◽  
Kiran Kumar

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