Presence Of Kayser-Fleischer Rings Research Articles

Ring and flower in the eye – An incidental finding of Wilson disease in a case of diabetic retinopathy: A case report

This is to report a rare case of Wilson disease (WD) with Kayser–Fleischer (KF) ring with sunflower cataract along with diabetic retinopathy. A 43-year-old male patient presented to the comprehensive clinic with a chief complaint of diminution of vision of both eyes since 8 months. On ocular examination, the cornea showed golden brown color pigment deposition in the Descemet membrane, indicative of KF ring, which is a pathognomonic feature of WD. There was brown plaque or spoke-like radial opacities on the anterior lens capsule in both eyes, which gives sunflower appearance, which is also a feature of WD. The posterior segment revealed diabetic retinopathy in both eyes. Serum ceruloplasmin was reduced, and the bilirubin level was mildly raised. Liver function test was mildly altered. Urine excretory copper levels were raised. Ultrasonography of the abdomen and pelvis revealed liver cirrhosis with portal hypertension, splenomegaly, gross ascites, and gall bladder calculi. This is a rare case of WD with KF ring with sunflower cataract with diabetic retinopathy in both eyes. Slit lamp examination is mandatory to diagnose it as WD in the presence of KF ring.

Update of expert recommendations on Wilson’s disease management

Wilson's disease is a rare autosomal recessive hereditary disorder of copper metabolism characterized by excessive copper build up in tissues, including brain and liver. The genetic defect localized at the 13q14 – q21 locus affects the gene for copper transporting protein ATP7B in the liver. This defect can be caused by deletions, insertions or missense mutations, leading to disruption of the copper incorporation into ceruloplasmin and the excretion of excess copper into bile. The disease is characterized by liver damage, neuropsychiatric symptoms, musculoskeletal, hematological and renal clinical signs, the presence of Kayser-Fleischer rings as well as many other possible symptoms, with their manifestation depending on the timeliness of diagnosis, stage and form of the disease, and therapeutic interventions.Organizations investigating the problems of Wilson's disease regularly issue new recommendations as knowledge about the disease expands. Innovative diagnostic and therapeutic procedures are put into practice, and views on the course of the disease features change. The general updates of the latest international recommendations described in this article for their early introduction into practical healthcare relate to diagnostic algorithms, indications and the choice of timing and methods of drug treatment in various groups of patients with Wilson's disease, including a more complete review of neuropsychiatric care, as well as the possible tools for therapy monitoring.

Vascular changes in macula, optic disc, and choroid in Wilson's disease: A cross-sectional optical coherence tomography angiography study

PurposeTo evaluate the changes in the retinal and optic disc (OD) microcirculation in patients with Wilson's disease (WD) using optical coherence tomography angiography (OCTA). Materials and MethodsThis cross-sectional comparative study included 35 eyes of 35 WD patients (study group) and 36 eyes of 36 healthy participants (control group). The patients with WD were divided into subgroups based on the presence of Kayser-Fleischer rings. All the participants underwent a comprehensive ophthalmological examination, including OCTA. ResultsThe inferior perifoveal deep capillary plexus vessel density (DCP-VD), inferior radial peripapillary capillary vessel density (RPC-VD), and inferior peripapillary retinal nerve fiber layer (PPRNFL) thickness were significantly lower in the WD group than in the healthy participants (p=0.041, p=0.043, and p=0.045, respectively). In addition, in the subgroup analysis, the superior RPC-VD and inferior PPRNFL were significantly lower in the subgroup with Kayser-Fleischer rings (p=0.013 and p=0.041, respectively). ConclusionWe showed there to be changes in certain OCTA parameters in WD patients when compared with healthy controls. Thus, we hypothesized that OCTA could detect any retinal microvascular changes in WD patients without clinical evidence of retinal or OD involvement.

Is anterior segment OCT superior to slit-lamp biomicroscopic examination for Kayser Flesicher ring in Wilson's disease?

Detection of the Kayser-Fleischer (KF) ring in the diagnostic scoring and treatment follow-up of Wilson's Disease (WD) is important. Slit lamp (SL) biomicroscopic examination has traditionally been used in the evaluation of the KF ring. The role of Anterior Segment Optical Coherence Tomography (AS-OCT), which is used in various corneal diseases, in the detection of KF rings has attracted attention in recent years. In our study, we tried to demonstrate the effectiveness of AS-OCT in detecting the KF ring by comparing it with SL biomicroscopic examination. 64 of 356 patients followed in our outpatient clinic due to WD were included in the study in the order of their admission to the outpatient clinic. The KF ring was evaluated in both eyes by SL-biomicroscopic examination and AS-OCT. Ophthalmic examination, and findings were performed by the same physician. Age range was 18-67 years, mean 33.06±10.83 years, gender was 39.1% (n: 25) female. At the time of diagnosis, the mean age was 19.48 ± 9.36 years, range was minimum 5 years and maximum 51 years. Clinical presentation was mixed type involvement n: 18 (28.1%), hepatic involvement n: 32 (50%), neurological involvement n: 14 (21.9%). The follow-up period was 2-257 months (74.6±76.16). The presence of KF ring was evaluated together with both AS-OCT and slit-lamp examination, the presence of KF could be detected in both AS-OCT and SL biomicroscopic examination in 10 patients (15.6%), in 12 (18.8%) of the cases KF ring is positive in AS-OCT but was negative in Slit-lamp biomicroscopic examination, in 65.6 (n: 42) of the cases OCT and slit-lamp biomicroscopic examination results were negative. The sensitivity of AS-OCT in detecting the KF ring was higher than the slit-lamp biomicroscopic examination. AS-OCT can detect early stage of KF rings in Wilson's Disease patients, so that diagnosis and treatment accuracy can be evaluated effectively.

THE PSEUDOSCLEROTIC FORM (“WING-BEATING TREMOR”) OF WILSON’S DISEASE

Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “wing-beating tremor” in the right arm that started with two month in advance of hospital admission, than evolved to the left arm, a week before hospitalization. The slit-lamp examination showed the presence of Kayser-Fleischer rings in both eyes. The laboratory tests and brain MRI confirmed the diagnostic of Wilson’s disease.

The sunflower cataract in Wilson's disease: pathognomonic sign or rare finding?

The presence of Kayser–Fleischer ring in patients with Wilson’s disease (WD) is well documented and included in diagnostic algorithms; however, data about the occurrence of the second postulated ophthalmological sign of WD, sunflower cataract (SC), are limited and even conflicting. The aim of our study was to verify the occurrence of SC in WD. From January 2010 to May 2015, 81 consecutive, newly diagnosed WD patients underwent detailed ophthalmological examinations, including slit lamp examination with special attention to lens transparency, to verify the presence of SC in WD-naive patients. SC was detected in only one (1.2 %) of the examined WD patients, did not impact visual acuity; moreover, completely disappeared following a year of treatment for WD. SC may be a very rare and reversible ophthalmological manifestation of WD that is observed seldom and only at the time of WD diagnosis. We postulate that a finding of SC in WD patients is an interesting finding that may occur in the course of WD, but it is not a pathognomonic sign of WD.

Bipolar Disorder and Wilson’s Disease: A Case Report

Wilson’s disease is an uncommon inherited disorder characterized by low serum ceruloplasmin levels, hypercupriuria and Kayser-Fleischer rings. Here we describe the case of a young boy who presented with symptoms of bipolar depression along with bilateral hand tremors. He was started with Quetiapine but symptoms did not improve. Investigations revealed cirrhotic changes of liver, low serum ceruloplasmin levels, presence of Kayser-Fleischer rings. The diagnosis of Wilson’s disease was confirmed by high 24hr. urinary copper levels. Bipolar symptoms improved after 7 months of initiation of oral penicillamine treatment.J Psychiatric Association of Nepal Vol .3, No.2, 2014, pp: 50-52DOI: http://dx.doi.org/10.3126/jpan.v3i2.12399

Wilson's Disease Presenting With Pancytopenia

Wilson’s disease is an autosomal recessive disorder of copper metabolism characterized by excessive amount of copper in liver, brain, eye and other body tissues. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration. The main clinical symptoms are usually due to hepatic and/or neurologic involvement. Pancytopenia is a rare initial symptom of Wilson Disease. An 11-year-old female presented with pancytopenia. This raised suspicion of Wilson’s disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level and raised 24- hour urine copper level. Thus a pancytopenia may be the initial manifestation of Wilson’s disease in some patients of Wilson’s disease. Key Words: Wilson’s disease, pancytopenia, Kayser-Fleischer rings

Atypical Presentation of Wilson Disease

A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics. She had remission with reinstitution of antibiotics. Liver biopsy revealed pronounced bile ductular reaction, bridging fibrosis, and hepatocytic anisocytosis and anisonucleosis with degenerative enlarged eosinophilic hepatocytes, suggestive of Wilson disease. Diagnosis of Wilson disease was further established based on the low serum ceruloplasmin, increased urinary and hepatic copper and presence of Kayser-Fleischer rings. The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on.

Copper deficiency myeloneuropathy in a patient with Wilson disease

Cases of copper deficiency myeloneuropathy (CDM) have been increasingly reported but hypocupremia remains to be an underrecognized cause of myelopathy.1 As zinc reduces copper gastrointestinal absorption, excess zinc ingestion is an important cause of hypocupremia.2 Wilson disease (WD) is a disorder of copper metabolism characterized by impaired excretion of this metal, resulting in its accumulation in many organs, such as liver, brain, and cornea. Treatment options include penicillamine, trientine, and zinc. We report the case of a patient with WD treated with zinc who developed a myeloneuropathy in the setting of copper deficiency. ### Case report. A previously healthy woman developed depression, postural tremor, and dysarthria at the age of 29 years. Based on the presence of Kayser-Fleischer rings and a low ceruloplasmin level (4 mg/dL, normal range 20–60), a diagnosis of WD was made. She received penicillamine for 1 year with resolution of symptoms and signs. Due to adverse event, this medication was switched to …

Clinical features of Wilson disease: Analysis of 10 cases

The diagnosis of Wilson disease is based on the results of several clinical and biochemical tests. This study aimed to clarify the clinical features and spectrum of Wilson disease, including severe Wilson disease. Between 1985 and 2009, 10 patients with clinical, biochemical or histological evidence of Wilson disease were either diagnosed or had a previously established diagnosis confirmed at Fukuoka University Hospital. Severe Wilson disease was defined by a serum prothrombin time ratio of more than 1.5 or serum prothrombin activity of less than 50%. The 10 Wilson disease patients were divided into two groups, one containing three non-severe patients and the other containing seven severe patients, and the biochemical features of the patients in these two groups were compared. The mean age at diagnosis was 21.5 ± 11.7 years (range, 7-39). Decreased serum ceruloplasmin, enhanced 24-h urinary copper excretion, presence of Kayser-Fleischer rings and histological signs of chronic liver damage were confirmed in 100%, 100%, 66.7% and 100% of patients, respectively. Severe Wilson disease patients had higher levels of serum ceruloplasmin and serum copper (P < 0.05, P < 0.05, respectively) than non-severe patients. In severe Wilson disease patients, the serum ceruloplasmin and serum copper levels were higher than those in non-severe Wilson disease patients.

Clinical Features and Therapeutic Response in Taiwanese Children With Wilson's Disease: 12 Years of Experience in a Single Center

Wilson's disease (WD) is an autosomal recessive defect of cellular copper export. Early diagnosis in children is difficult due to its obscure clinical presentations. The efficacy of zinc salts is well documented, although there are limited data concerning zinc use in pediatric patients with WD. We performed a retrospective analysis of clinical features, laboratory results and treatment responses in children with WD diagnosed at Taichung Veterans General Hospital between 1996 and 2008. Diagnosis was established by low serum ceruloplasmin, high 24-hour urinary copper excretion, presence of Kayser-Fleischer rings, and mutation analysis. Eleven children were included in this study. The main initial presentations were impaired liver function tests (6/11) and hemolytic anemia (2/11). Gene studies in seven children showed six different mutations (G934D, R778Q, C490X, 304insC, IVS4-1 G > C, P992I) and one possible novel mutation (L1181P). All patients had improved liver function tests and hemoglobin levels after treatment with D-penicillamine, trientine and zinc supplement therapy. During a mean period of 3.4 +/- 2.1 years with zinc therapy, six patients had serum zinc levels above the normal limit, and seven patients had serum copper levels below the normal range. Serum ceruloplasmin and 24-hour urinary copper examinations could be used to rule out WD in children with chronic hepatitis and hemolytic anemia. Gene analysis is helpful for prompt diagnosis of asymptomatic siblings and patients with atypical features. Zinc treatment is generally safe in pediatric patients with WD. However, its adverse effects should be monitored.

Teaching Video Neuro Images : Excessive grinning in Wilson disease

A 19-year-old man presented with a 3-month history of excessive grinning. Examination revealed unrestrained grinning and mild symmetric parkinsonism. Wilson disease was suspected and confirmed by the presence of Kayser-Fleischer ring …

415: Neurological features of Wilson’s disease precipitated by liver tranplantation

The debate concerning the pathogenesis of neurological features in Wilson’s Disease continues. We present a case which confronts some accepted concepts, and raises other issues regarding the risks of liver transplantation for patients with Wilson’s Disease. We review the case of a 50 year old gentleman, newly diagnosed with chronic liver disease due to Wilson’s Disease and with minimal neurological involvement. The diagnosis was based on the combination of low serum caeruloplasmin, elevated 24-h urinary copper excretion, presence of Kayser-Fleischer rings, and compatible liver histology.

Diagnosis of Wilson's Disease: A Comprehensive Review

Wilson's disease is an autosomal recessive disorder of copper metabolism. The culprit gene is ATP7B. The worldwide prevalence is about 1 in 30,000, which may vary by population. Higher prevalence rates were reported using more sensitive screening techniques and pilot population screening. Typical presentations include neuropsychiatric and hepatic dysfunction, whereas atypical presentations are protean. Diagnosis relies on a high clinical suspicion, typical neurological symptoms, presence of Kayser-Fleischer rings, and reduced serum ceruloplasmin concentration. The conventional value of < 0.20 g/l is not a universal diagnostic value. Age of the subjects and analytical variations should be considered when interpreting these levels. Patients with inconclusive findings require further investigations such as 24 h urinary free-copper excretion, penicillamine challenge test, liver copper measurement, and detection of gene mutations. Direct molecular diagnosis remains the most decisive tool. Other tests such as non-ceruloplasmin–bound copper are unreliable. Potential pitfalls and limitations of these diagnostic markers are critically reviewed in this paper. The mainstays of therapy are trientine, penicillamine, and/or zinc. Liver transplantation is lifesaving for those with advanced disease. Ceruloplasmin oxidase activity and serum free-copper concentration should be monitored in patients on long-term de-coppering therapy to prevent iatrogenic copper deficiency.

P0263 WILSON???S DISEASE IN CHILDHOOD - PRESENTATION AND MANAGEMENT ( 4 YEARS RETROSPECTIVE STUDY )

Introduction: Objective of the study:to evaluate the effectiveness of the different treatments methods with chelating agents, Zinc or Orthopic Liver Transplantation based on hepatic or neurological manifestation at the pediatric patients with Wilson’s Disease. Methods: Between January 2000 and December 2003, 14 children were Wilson’s Disease diagnosed: 10 male and 14 female, with an average age of 10,2 years. The average duration from the beginning to the diagnosis was 14 months, longer at those ones with initial neurological disorder (20 months). The diagnosis was based on the low serum ceruloplasmin level (under 0,2g/l), increased of the copper in 24-hours urine and the presence of Kayser-Fleischer rings. The chelating drugs D-Penicillamine was the main stay of therapy for 10 patients (2 of them in association with Zinc);1 patient was treated with Zinc salts only; one with Trientine and 2 benefited by Orthotopic Liver Transplantation. No severe side effects were noticed. We have regularly monitories (every 6 months): serum copper, ceruloplasmin, liver biochemistries, physical examination. To determine the compliance at the treatment or to adjust the medication dosage, we measured the copper excretion in 24-hours urine (under 0,5g/l)every 6 months. Results: All the patients had a hepatic disease at the beginning of the study: hepatic cirrhosis (6 cases), chronic hepatitis (3), fulminate hepatic failure (3).5 patients had a neuropsychiatrical disorder.2 patients with fulminate hepatic failure and hemolytic anemia who benefited by Orthotopic Liver Transplantation had a good further evolution. A patient with fulminate hepatic failure was treated with Trientine during a month, without improvement and evolution to exitus-we suspect poor compliance at the treatment. At the 5 patients with hepatic and neurological manifestation a partial remition of the neuropsihiatrical symptoms was achieved and the hepatic disease was stabilized. The neurological improvement was faster at those who received Zinc as well. At the 6 patients with hepatic disease, treated with D-Penicillamine a hepatic function improvement was noticed (3 by those ones were at presymptomatic stage). Conclusion: 1. The liver disease (unknown origin) with positive family history should imply Wilson’s Disease strongly. 2. The faster the introduction of the chelating therapy is, the better the results are. 3. At the symptomatic patients with a good compliance at the treatment an improvement of the hepatic disease was obtained. 4. The patients at whom the chelating treatment was initiated before the beginning of the clinical symptoms had an excellent evolution: no appearance of the symptoms on the followed period. 5. For patients with fulminate hepatic failure and hemolytic anemia, the only solution was the Orthotopic Liver Transplantation.

Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a copper-transporting P-type ATPase. A search for ATP7B mutations in WD patients from five population samples, including 109 North American patients, revealed 27 distinct mutations, 18 of which are novel. A composite of published findings shows missense mutations in all exons-except in exons 1-5, which encode the six copper-binding motifs, and in exon 21, which spans the carboxy-terminus and the poly(A) tail. Over one-half of all WD mutations occur only rarely in any population sample. A splice-site mutation in exon 12 accounts for 3% of the WD mutations in our sample and produces an in-frame, 39-bp insertion in mRNA of patients homozygous, but not heterozygous, for the mutation. The most common WD mutation (His1069Glu) was represented in approximately 38% of all the WD chromosomes from the North American, Russian, and Swedish samples. In several population cohorts, this mutation deviated from Hardy-Weinberg equilibrium, with an overrepresentation of homozygotes. We did not find a significant correlation between His1069Glu homozygosity and several clinical indices, including age of onset, clinical manifestation, ceruloplasmin activity, hepatic copper levels, and the presence of Kayser-Fleischer rings. Finally, lymphoblast cell lines from individuals homozygous for His1069Glu and 4 other mutations all demonstrated significantly decreased copper-stimulated ATPase activity.

Acneiform Papules on the Neck

REPORT OF A CASE In 1975, a 29-year-old white woman was diagnosed with Wilson's disease by neurologic examination and the presence of Kayser-Fleischer rings. She was given penicillamine (0.5 mg twice daily), which reversed most of her symptoms, and the Kayser-Fleischer rings disappeared. Approximately 14 years later, an acneiform eruption developed on her neck that persisted for 1 year. Physical examination revealed erythematous papules in an arciform pattern on the anterior neck ( Figure 1 ). A lesional skin specimen was obtained and submitted for histopathologic examination ( Figures 2 through 4 ). These lesions failed to respond to intralesional triamcinolone acetonide but later improved with liquid nitrogen cryotherapy. What is your diagnosis? DIAGNOSIS: Elastosis perforans serpiginosa (EPS). HISTOPATHOLOGIC FINDING Individual papules consisted of a reactive thickened epidermis, increased dermal elastin, and inflammation. The epidermis was hyperkeratotic and acanthotic. Occasionally, the epidermis was disrupted by transepidermal

Wilson’s Disease in an Elderly Patient

A 65-year-old man with Fanconi’s syndrome was investigated for the cause of chronic liver disease. Wilson’s disease was diagnosed based on the detection of bilateral Kayser-Fleischer rings, a low serum ceruloplasmin level, increased urine copper excretion and positive histochemical stains of his liver for copper. This case is unusual because of the patient’s elderly age at the time of diagnosis and the absence of neurological changes due to Wilson’s disease in spite of advanced hepatic disease and the presence of Kayser-Fleischer rings. Even in the elderly patient, Wilson’s disease should be considered a possible cause of chronic liver disease.

Wilson's Disease in Saudi Arabia: Report of a Saudi Arab Family

A Saudi family with Wilson's disease (hepatolenticular degeneration) is described. The index case presented with anicteric hepatitis and hydrops of the gallbladder. Neurological involvement appeared later. The diagnosis of Wilson's disease was based on the presence of Kayser-Fleischer rings, a low serum ceruloplasmin level, and an elevated urinary copper concentration. Histological examination of the liver biopsy specimen revealed active cirrhosis. Acute hepatic failure developed during D-penicillamine therapy. Continuation of the drug at a lower dose, along with other supporitve measures, was successful in reversing this. After three years of therapy, the index patient's neurological signs disappeared, and liver function and gallbladder size and function returned to normal. Family screening revealed that three other siblings have the disease, and all have been treated with D-penicillamine. The parents are related but are asymptomatic. An unusual feature of the index case was the presence of a distended nonfunctioning gallbladder that reverted to normal with decoppering. Although D-penicillamine treatment possibly precipitated the acute hepatic failure, paradoxically it was also successful in treating it.