History of Wilson's disease: 1912 to 2000

2006 ◽  
Vol 21 (2) ◽  
pp. 142-147 ◽  
Author(s):  
John M. Walshe
2021 ◽  
Vol 5 (2) ◽  
pp. 39-44
Author(s):  
Elham Zare ◽  
Zahra Mahbubi ◽  
Maryam Panahi

We report a short-statured, 39-year-old male presenting with recurrent kidney stones, history of refractory rickets, and bone deformity. He had been consuming multiple doses of calcium supplements and multiple courses of vitamin D over past 30 years beforeprior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi’s syndrome attributable to Wilson’s disease. This patient highlighted that in case of resistant rickets, a high index of uncertainty must be invoked for Wilson’s disease. Appropriate timely recognition of this entity results in prompt ministrations and prevention of disability. We also presented and discussed reviews on Wilson’s disease from literature.


2011 ◽  
Vol 7 (1) ◽  
pp. 182-184 ◽  
Author(s):  
Orazio Sorbello ◽  
Daniela Riccio ◽  
Margherita Sini ◽  
Mauro Carta ◽  
Luigi Demelia

A psychiatric involvement is frequently present in Wilson’s disease. Psychiatric symptoms are sometimes the first and only manifestation of Wilson’s disease. More often a psychiatric involvement is present beside a neurologic or hepatic disease. We describe the case of a 18 years-old male patient who shows a clinic and laboratoristic pattern of cirrhosis and an history of subchronic hallucinatory psychosis, behavioral symptoms and mood disturbances with depressed mood. He hadn’t familiar history of liver or psychiatric disease. Laboratory and imaging tests confirmed the diagnosis of Wilson’s disease with psichiatric involvement. After liver transplantation copper metabolism and liver function normalised and we noticed no recurrency of the psichiatric illness. Very few cases of psychiatric improvement after orthotopic liver transplantation (OLT) has been described until now.


The Lancet ◽  
1967 ◽  
Vol 290 (7517) ◽  
pp. 672 ◽  
Author(s):  
J.M. Walshe

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Saeed Shokoohi-Rad ◽  
Hamid-Reza Heidarzadeh

Purpose. To report a female with a history of Wilson’s disease who underwent a successful photorefractive keratectomy (PRK) for myopic correction. Case Presentation. A twenty-year-old female with a history of Wilson’s disease and D-penicillamine use was referred to our clinic for myopic refractive surgery. Her best-corrected visual acuity (BCVA) was 20/20 for both eyes with a refraction of ‐ 1.25 ‐ 0.5 ∗ 75 ° and ‐ 1.25 ‐ 0.25 ∗ 55 ° for the right and left eyes. The slit examination showed a prominent Kayser-Fleischer ring (K-F ring) in both eyes. She underwent a successful myopic PRK surgery, and her BCVA became 20/20 with no significant refraction. Conclusions. In this report, we report a successful PRK surgery for myopic correction in a case of Wilson’s disease with prominent K-F rings in both eyes.


2018 ◽  
Vol 40 (2) ◽  
pp. 54-60
Author(s):  
Y. S. Tsimmerman

The article presents a detailed review of modern ideas on Wilson’s disease – hepatocerebral dystrophy. The definition, terminology, history of the study of the disease are stated. Special attention is paid to the analysis of the pathogenesis of hepatocerebral dystrophy, including the genetic basis of its development, the disturbance of copper metabolism. The clinical picture is thoroughly described, taking into account the characteristics of liver lesion and extrahepatic manifestations, diagnostics, classification. Particular attention is paid to the means of pathogenetic and symptomatic treatment.


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