Kayser-Fleischer Ring evaluation in Wilson's Disease in a tertiary eye care centre of Nepal (original) (raw)

Kayser–Fleischer ring in Wilson's disease: A cohort study

European Journal of Internal Medicine, 2012

To evaluate Wilson's disease (WD) features in Sardinian patients with Kayser-Fleischer (KF) ring and to evaluate correlations between modifications in KF and anti-copper therapy and systemic WD evolution. Patients and methods: Sixty-seven WD patients (35 m/32 f; mean age 41 years) were retrospectively studied. At diagnosis and during follow up comprehensive ophthalmologic and neurologic examinations, brain RMN and ECD SPECT, detailed objective laboratory studies and hepatic histological examination were performed on all patients for analysis. All patients were given anti-copper therapy with D-Penicillamine in monotherapy or in combination with Zinc Salts. Results: At diagnosis, KF was observed in 27% of patients with equal distribution in all age groups. Significant correlations between KF at diagnosis, neuro-psychiatric manifestations and pathologic features in brain RMN and in brain ECD SPECT were found at diagnosis. During follow up, a decrease in, or regression of KF was seen in 14% of patients. Anti-copper therapy leads to KF regression and prevents the appearance of KF. No significant correlations were observed between KF regression and clinical neurological or neuro-imaging improvement nor between KF modifications and clinical hepatic improvement. Conclusions: Our study highlights the peculiar features of Sardinian WD patients: low representation of KF, its equal distribution in all age groups, significant correlation between KF at diagnosis and clinical neurological manifestations, pathologic brain RMN and brain ECD-SPECT are highlighted by our study. Anti-copper therapy induces KF regression and prevents its onset. Therefore, KF ring does appear to be a predictive factor in the neurological and hepatic evolution of WD.

Wilson disease; analysis of 34 Turkish patients

Hepatology Research, 1999

The aim of this study was to determine clinical and laboratory findings of 34 Turkish children with Wilson disease (WD) at diagnosis before treatment. Presenting symptom was chronic liver disease in 27 patients. Five patients also had neurological symptoms. Seven patients were detected by family screening (siblings) and two were asymptomatic. Evaluation included neurological and ophthalmic examination, routine laboratory tests and parameters of copper metabolism, including liver copper content in 20 liver biopsy specimens. In the whole group, serum ceruloplasmin level was 20 mg/dl in 76.5%, urinary copper excretion was increased in 81.4% and liver copper content was elevated in 45% at diagnosis. Kayser -Fleischer rings were detected in 47% of patients. We concluded that, in patients presenting with liver disease and/or neurologic abnormalities of unknown origin, even normal ceruloplasmin and hepatic copper concentration, WD should always be kept in mind. On the other hand, family screening must be done in order to find siblings who suffer from WD in the early stages.

Wilson's disease: Experience at a tertiary care hospital

Journal of the College of Physicians and Surgeons, 2013

Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism. Data regarding WD is not available from Pakistan. A cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, and all patients admitted with primary and secondary diagnosis of Wilson's disease were added. A total of 47 patients were seen; 68% (n = 32) were male. The mean age was 26.6 ± 9.97 years. Most of the patients presented with hepatic, (n = 22, 46.8%), neurological, (n = 17, 36.2%) and psychiatric (n = 8, 17%) symptoms. Mean ceruloplasmin level was 0.17 ± 0.13 g/dl; it was < 0.25 g/dl in 39 (86.6%) patients. Serum copper (Cu) was reduced in 32 (68.1%) patients and 24-hr-urinary Cu was raised in 22 (47.6%) patients. Slit lamp examination for Kayser-Fleischer (KF) rings was done on 15 (31.9%) patients and 9 (60%) of them had KF rings. Mean serum aspartate transaminase (AST) / alanine transaminases (ALT) ratio was 1.92 and median alkaline phosphatase / total bilir...

Clinicopathologic findings in 35 children with Wilson disease

Jordan Medical Journal

Background and Aim: Wilson disease is a rare autosomal recessive disorder of copper metabolism. Wilson disease is the most common metabolic cause of fulminant hepatic failure in children over the age of 3 years. The aim of this study was to find the major clinical & pathologic findings of Wilson disease in children in Tehran.

Value of Kayser-Fleischer ring as a diagnostic tool for Wilson’s disease in children

Z H Sikder Women’s Medical College Journal, 2021

The Kayser-Fleischer(K-F) ring is the hallmark of Wilson’s disease (WD). In most adults or older children, the diagnosis of Wilson’s disease may be made easily when K-Frings and low ceruloplasmin levels are present. In this study presence of K-F ring has been evaluated among children with liver disease in Bangladesh to improve the management of Chronic liver disease due to WD and reduce complications. This cross-sectional study was carried out at the Department of Paediatric Gastroenterology and Nutrition, BSMMU, Dhaka on 60 children presented with liver disease. Thirty children over three years of age considered as cases (Group-I) and thirty children with non- Wilsonian liver disease as control (Group-II). Slit lamp examination for K-F ring and twenty-four hour urinary copper excretion after giving one gram d-penicillamine 12-hour apart were done in each patient. The efficacy of K-F ring was studied. Mean age of WD patients was 8.9± 2.78 years, with a male female ratio of 1.3: 1. T...

A Challenging Case of Wilson's Disease

Cureus, 2023

Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea. The clinical presentation of WD can vary widely. Diagnosis requires a combination of clinical and biochemical findings. We present a case of a 20year-old woman who presented to the Emergency Room with progressive motor decline. She exhibited characteristic neurological symptoms and signs, such as hypomimia, bradyphrenia, bradykinesia, dysarthria, sialorrhea, upper limb dystonia, and wing-beating tremor. Ophthalmological examination revealed corneal deposits known as Kayser-Fleischer rings. Laboratory investigations demonstrated low levels of ceruloplasmin and elevated serum copper. Brain MRI showed typical signs of copper deposition in the basal ganglia. The Leipzig criteria were used to confirm the diagnosis. Treatment with penicillamine and zinc acetate resulted in symptom improvement. This case highlights the diverse presentation of WD and the importance of early diagnosis and prompt treatment initiation.

Image-based detection of Kayser-Fleischer ring in patient with Wilson Disease

2013

ABSTRACT In the paper the authors propose an image processing algorithm for detection of Kayser-Fleischer ring in eye cornea. This is a common symptom of a rare genetic disorder known as Wilson Disease. This pathology is cause of a malfunction in the copper excretion from the organism. So copper accumulates in tissues being responsible of oxidative processes in the organs affected. Copper deposit in the cornea is visible as a golden-brown, sometimes orange or greyish, pigmentation called Kayser-Fleischer ring. So it is considered a diagnostic sign of Wilson disease more than ever in individuals with neurological disorders. The proposed algorithm is based on an image processing approach. In detail, eye image is analyzed by means of a segmentation algorithm to detect the Kayser-Fleischer ring. The proposed screening method is non-invasive and automated. The innovative diagnostic tool aims to improve accuracy of actual methods used in practice. So the described technique reduces possible interpretation errors and assists doctor to diagnose the pathology.

Challenging diagnosis of Wilson’s disease – a case report

2023

Wilson's disease is a rare inherited disorder of copper metabolism. If left untreated, it can turn into a multi systemic disease with copper deposition in the liver, brain, and other tissues. Diagnosis of Wilson's is delayed in Pakistan by many years on average due to variable presentations. In adolescents, the initial signs are more likely to be neuropsychiatric. Here we present a case of Wilson's disease that presented initially with hepatic symptoms and did not have signs specific to the disease such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease only on further investigations and subsequently the patient was treated with chelation therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagnosis in adolescent patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

Analysis of clinical and biochemical spectrum of Wilson Disease patients

Indian Journal of Pathology and Microbiology, 2012

Background and Aims: Wilson disease (WD) is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages fi ve to 35 but it can vary from two years to 72 years. Materials and Methods: Study was carried out from June 2008 to November 2010. This study included nine families with eleven cases of WD to determine clinical presentation, diagnostic fi ndings (including laboratory results) and liver histology. It included 11 patients who presented with hepatic manifestations and/or Neuropsychiatric manifestations and/or family history suggesting features of WD. Patients with hepatitis B and C and those with history of taking antipsychotic drugs were excluded from the study. Patient's data was included in a well designed performa. Liver function test, serum ceruloplasmin, serum copper, 24 hour urinary copper, blood complete picture were analyzed. Quantitative data such as age, hemoglobin etc were expressed as mean with ± SD and quantitative variables such as sex, movement disorders, hepatic involvement etc were expressed as frequency and percentage. Results: There were fi ve male and six female patients with evidence of various manifestations here (i) hepatic in which they had only liver dysfunction (ii) hepatic and neurological (iii) neurological. The mean age of presentation was 8.7±3.92 years (range 4-19 years) and 45% were male patients. Decreased serum ceruloplasmin, enhanced 24-h urinary copper excretion and signs of chronic liver damage were confi rmed in all patients and Kayser-Fleischer rings (KF rings) in 72% of patients. In severe WD patients, serum prothrombin activity was less than 50%, serum ceruloplasmin were low and serum copper levels were high than those in non-severe WD patients. High degree of suspicion leads to early treatment with good outcome. Conclusions: The WD is rare but important cause of chronic liver disease. Clinical and biochemical analysis in cases of patients with unexplained liver disease with high degree of suspicion can lead to early treatment with good outcome.