INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.

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

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. There was significant low level of serum ceruloplasmin in 93.33% of cases (p<.001). After penicillamine challenge, 24-hour urinary copper excretion was found significantly higher in patients with WD (median 3626.5±1698 μg/24h, range 1262- 195000) than non-Wilsonian liver disease (median 450±278.09 μg/24-h, range 47- 2062 μg/24h), (p<.001). K-F ring was found in 15 (50%) patients, absent in all patients of non-Wilsonian liver disease group and the difference was statistically significant (p<.001). Evaluation of Kayser-Fleischer ring is still a very essential diagnostic tool and is a non-invasive, affordable way to assist in the diagnosis of a potentially fatal disease.

Prolonged Hypercupremia after Laparoscopic Vertical Sleeve Gastrectomy Successfully Treated with Oral Zinc

A 30-year-old female underwent vertical sleeve gastrectomy. Postoperatively, hypercupremia and elevated ceruloplasmin were identified. Further testing revealed normal blood levels of transaminases, alkaline phosphatase, and albumin. She stopped ingestion of multivitamins, began a copper-free multivitamin, and then began a low copper diet, but with no improvement in hypercupremia. Protein electrophoresis was normal with no M-spike. Urinary copper excretion was normal at 0.24 micromol/24 hours (normal: < 0.55), and there were no Kayser-Fleischer rings on slit lamp examination. Two years postoperatively, she lost 44% of excess preoperative weight and she began zinc sulfate before meals twice daily (115 mg elemental Zinc/day). At 2 months and 8 months later, plasma copper and ceruloplasmin had essentially normalized. Increased production of ceruloplasmin could have been a response to significant weight loss or the presence of nonalcoholic steatohepatitis. The mechanism of zinc’s beneficial effect is uncertain but may be related to suppressing hepatic synthesis of or secretion of ceruloplasmin.

An Unusual Findings of Elevated Urinary Copper Excretion in a Patient with Subacute Sclerosing Panencephalitis (SSPE): A Case Report

Subacute sclerosing panencephalitis is a progressive neurological disorder of childhood and early adolescence. It is caused by persistent defective measles virus1.We report a ten years old normally developed female patient who came with a history of drop attacks while walking, declining scholastic performance, progressively increasing myoclonic jerks. She had history of measles at five years of age though she was vaccinated as per EPI schedule. Physical examination and cerebrospinal fluid findings along with EEG changes in addition supported its diagnosis as a case of SSPE. The presence of increased urinary excretion of copper in SSPE is so far not yet reported in any published literature.Journal of National Institute of Neurosciences Bangladesh, 2017;3(2): 113-115

Seizures and Shakes

Wilson’s disease is an autosomal recessive, treatable heredodegenerative disorder characterized by excessive deposition of copper in the liver, brain, and other tissues including the kidneys, pancreas, and joints. Early recognition of the disorder, which can present with a variety of movement disorders and neuropsychiatric phenomena, is critical to avoid irreversible end organ damage through the initiation of copper chelating agents. Diagnosis relies first on demonstrating evidence of brain iron deposition on magnetic resonance imaging of brain and elevated urinary copper excretion in the appropriate clinical context. Genetic testing for mutations in the ATP7B gene will identify a mutation in up to 90% of cases.

Spectrum of Hepatic Presentation of Wilson’s Disease in Children Attending A Tertiary Care Centre of Dhaka City

Background: The incidence of Wilson’s disease (WD) is increasing day by day in every ethnic group worldwide. WD has been found as a common cause of chronic liver disease in children. This study was undertaken to find out the occurrence and different types of hepatic presentation of Wilson’s disease in children admitted with liver diseases at a tertiary care centre of Bangladesh. Methodology: This cross sectional descriptive study was carried out at the department of Paediatric Gastroenterology and Nutrition, BSMMU during the period from March 2008 through April 2010. A total number of 71 children of both sexes aged 3-15 years, who had the features of liver disease (jaundice with or without hepatomegaly / splenomegaly and / or raised serum ALT), were enrolled in this study. For the purpose of the study, the diagnosis of WD was made by the presence of any 2 of the 3 features: presence of K-F ring by slit lamp examination, low serum ceruloplasmin level (<20 mg/dL) and urinary copper excretion of >1600 ?gm /24 hours after penicillamine challenge. Results: Wilson’s disease was found in 31 (43.7%) of 71 children. Among them chronic liver diseases were 18 (58%), acute hepatitis 6 (19.4%), acute liver failure 6 (19.4%) and asymptomatic WD case was 1 (3.2%). The mean age ±SD of WD cases at presentation was 9.87±2.6 years and 22 (70%) cases were male. Maximum numbers of WD cases were found in children below 10 year of age. The two common presenting features of WD cases were jaundice 28 (90.3%) and ascitis (58.1%). Other features were K-F ring, 25 (80.6%) and hepatomegaly, 24 (77.4%). Biochemical findings showed low serum ceruloplasmin level (done in 20 patients) in 20 cases and 24 hours urinary copper excretion of >1600 mg/day in 23 cases. About one third of children presented with liver diseases were diagnosed as Wilson’s disease and about 50% of WD cases presented with chronic liver diseases. Conclusion: Wilson’s disease is a common cause of chronic liver disease. Penicillamine challenge is a reliable diagnostic test for Wilson’s disease. DOI: http://dx.doi.org/10.3329/bjch.v38i2.21142 Bangladesh J Child Health 2014; VOL 38 (2) : 79-85