The wilson's disease is a disease in which there is a genetic defect in the body for copper metabolism,so that copper is not being utilised in the body and accumulated in the body in various body parts & organs.It will be presented with various clinical presentions like early liver damage & later brain damage.Here i am going to represent 3 cases of the wilson' disease having different type of presentation at early stage.
Table of Contents
1. ABSTRACT
2. INTRODUCTION
3. CASE REPORT – 1
4. CASE REPORT – 2
5. CASE REPORT - 3
6. DISSCUSSION
Research Objectives and Themes
The primary objective of this case report is to present and analyze three distinct clinical presentations of Wilson disease, highlighting the variety of symptoms and the underlying metabolic disturbances involving copper regulation. The study aims to correlate clinical manifestations with the pathology of the disease, emphasizing the importance of early diagnosis and specific treatment protocols.
- Pathophysiology of copper metabolism and ATP7B gene mutation.
- Clinical manifestations ranging from hepatic cirrhosis to neurologic impairments.
- Diagnostic relevance of Kayser-Fleischer rings and biochemical markers.
- Evaluation of therapeutic approaches using copper chelating agents.
Excerpt from the Book
DISSCUSSION
A neurologic disorder had been described previously by Gowers (1906) under the title of "tetanoid chorea" & by Westphal (1883) & Strümpell (1898) as "pseudosclerosis." None of them, recognized the association with cirrhosis.
The clinical studies of Hall (1921) and the histopathologic studies of Spielmeyer (1920), who reexamined sections from the liver & brain of Westphal's and Strümpell's cases, clearly established that the pseudosclerosis was the same disease as the one that had been described by Wilson.
Interestingly, none of these authors, including Wilson, noticed the golden brown (Kayser-Fleischer) corneal ring, the one pathognomonic sign of the disease.
The onset of neurologic symptoms is usually in the second decade. Half of patients are symptomatic by age 15 years, but exceptional cases, including two under our care, had their first clinical manifestations as late as their midthirties. In all instances the initial event is a deposition of copper in the liver, leading to an acute or chronic hepatopathy and eventually to multilobular cirrhosis and splenomegaly. In childhood, attacks of jaundice, unexplained hepatosplenomegaly, or hypersplenism with thrombocytopenia and bleeding. Rarely there is clear evidence of cirrhosis alone.
Summary of Chapters
ABSTRACT: Summarizes the etiology of Wilson disease as a familial nervous disorder linked to cirrhosis and copper accumulation, while noting the observation of three specific clinical cases.
INTRODUCTION: Explains the autosomal recessive transmission of Wilson disease caused by ATP7B gene mutations and the resulting disturbances in copper metabolism.
CASE REPORT – 1: Details a 30-year-old male patient presenting with transient episodes of postural loss and gait abnormality, subsequently diagnosed with Wilson disease.
CASE REPORT – 2: Reports on a 34-year-old male with abdominal distention and hemiplegia, who unfortunately succumbed to acute liver failure before discharge.
CASE REPORT - 3: Describes a 19-year-old patient admitted with hepatosplenomegaly and ascites, highlighting the severity of hepatic involvement in younger patients.
DISSCUSSION: Provides a historical overview of the disease's classification and discusses the typical clinical onset, neurologic manifestations, and the importance of pathognomonic signs like the Kayser-Fleischer ring.
Keywords
Wilson disease, Progressive Lenticular Degeneration, Cirrhosis, Copper metabolism, ATP7B, Ceruloplasmin, Kayser-Fleischer ring, D-Penicillamine, Hepatopathy, Splenomegaly, Neurologic disorder, Chelation therapy, Liver failure.
Frequently Asked Questions
What is the core focus of this publication?
The publication focuses on the clinical presentation, diagnosis, and management of Wilson disease through the documentation of three specific patient cases.
What are the primary themes discussed in this paper?
The central themes include the pathophysiology of copper accumulation, the link between hepatic and neurologic symptoms, diagnostic methodology, and therapeutic strategies.
What is the ultimate goal of the research presented?
The goal is to illustrate the diverse clinical manifestations of Wilson disease and underscore the necessity of early detection for effective management.
Which scientific methodology is employed in this study?
The study utilizes a clinical case report methodology, involving patient history analysis, physical examination, biochemical investigations, and follow-up observations.
What topics are covered in the main body?
The main body covers the theoretical introduction to Wilson disease, detailed patient case studies, and a discussion regarding the history and clinical progression of the condition.
How can the content be summarized by keywords?
The content is best summarized by terms such as Wilson disease, Cirrhosis, Copper metabolism, Kayser-Fleischer ring, and D-Penicillamine treatment.
Why are Kayser-Fleischer rings significant?
They are considered a pathognomonic sign of Wilson disease, appearing as a golden-brown ring in the cornea, which helps clinicians in the early detection of the disease.
What were the outcomes for the three patients documented?
The outcomes varied: one patient showed gradual improvement with treatment, one died due to acute liver failure, and the third passed away due to hepatic encephalopathy after a temporary recovery.
- Arbeit zitieren
- Dr. Vishal Sadatia (Autor:in), Dr. Mehul Patel (Autor:in), Dr. Jyotin Shah (Autor:in), 2011, Wilson Disease (Westphal- Strümpell Pseudosclerosis), München, GRIN Verlag, https://www.grin.com/document/175892
