Literature DB >> 23998100

Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.

Mani Kant Kumar1, Vijay Kumar, Praphul Kumar Singh.   

Abstract

Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we are reporting two siblings who were affected by Wilson's disease, with only neurological manifestations, without any hepatic involvement.

Entities:  

Keywords:  ATP7B; Dystonia; Kayser – Fleischer ring; Wilson’s Disease

Year:  2013        PMID: 23998100      PMCID: PMC3749670          DOI: 10.7860/JCDR/2013/5974.3188

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 in total

1.  'Face of the giant panda' sign in Wilson's disease: revisited.

Authors:  A Kuruvilla; S Joseph
Journal:  Neurol India       Date:  2000-12       Impact factor: 2.117

2.  Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma.

Authors:  N A Holtzman; B M Gaumnitz
Journal:  J Biol Chem       Date:  1970-05-10       Impact factor: 5.157

Review 3.  Wilson disease.

Authors:  Dominik Huster
Journal:  Best Pract Res Clin Gastroenterol       Date:  2010-10       Impact factor: 3.043

4.  Wilson's disease--early onset and lessons from a pediatric cohort in India.

Authors:  V Kalra; D Khurana; R Mittal
Journal:  Indian Pediatr       Date:  2000-06       Impact factor: 1.411

5.  Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.

Authors:  Alastair Compston
Journal:  Brain       Date:  2009-08       Impact factor: 13.501

6.  Molecular diagnosis and prophylactic therapy for presymptomatic Chinese patients with Wilson disease.

Authors:  Zhi-Ying Wu; Min-Ting Lin; Shen-Xing Murong; Ning Wang
Journal:  Arch Neurol       Date:  2003-05

7.  Development of cell therapy strategies to overcome copper toxicity in the LEC rat model of Wilson disease.

Authors:  Harmeet Malhi; Brigid Joseph; Michael L Schilsky; Sanjeev Gupta
Journal:  Regen Med       Date:  2008-03       Impact factor: 3.806

8.  Clinical correlation of brain MRI and MRS abnormalities in patients with Wilson disease.

Authors:  R A Page; C A Davie; D MacManus; K A Miszkiel; J M Walshe; D H Miller; A J Lees; A H V Schapira
Journal:  Neurology       Date:  2004-08-24       Impact factor: 9.910

  8 in total
  1 in total

1.  Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases.

Authors:  Md Rukunuzzaman
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2015-06-29
  1 in total

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