Neuro Wilson’s – An Alien Presentation.

Wilson’s disease is an Autosomal recessive disorder of inborn error of copper metabolism in liver which results in accumulation of copper in the liver, brain, kidneys, eye and other organs affecting commonly children and young adults. Its incidence varied from 33 to 68 per 100,000 in India and 1 in 30,000– 40,000 in worldwide population. Mainstay of diagnosis primarily depends on clinical features, biochemical parameters, presence of Kayser-Fleischer (KF) ring. A middle aged man referred as spinocerebellar ataxia was incidentally found to be an exclusive case of Neuro Wilson’s without involvement of the liver and hence we intend to report this case for its rarity.

The diagnostic value and limits of diagnostic parameters for Wilson’s disease / 中华肝脏病杂志

Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author’s long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD. In china, Kayser-Fleischer rings are present in 72.2% of patients at the time of diagnosis, the positive rate is significantly higher in patients with a neurological presentation (93.4%) than patients presenting with liver disease (63.3%), however, they are usually absent in children under 6 years old, occasionly present in patients with chronic cholestatic liver disease. The mean serum ceruloplamin level in WD patients is 71.1 ± 48.7 mg/L, the level is < 200 mg/L in 98.9% of patients, < 100 mg/L in about three fourths patients, < 50 mg/L in about half patients, but it may be low in 50% of patients with severe end-stage liver disease of any etiology too, and even lower than 50 mg/L in patients with nephritic syndrome. Basal 24-hour urinary copper excretion may be≥100 g at presentation in 86.7% of patients with WD, but also in 22% of Patients with certain chronic liver diseases, the sensitivity of penicillamine challenge test is lower than basal urinary copper excretion, however, the specificity is significantly higher than former (97% versus 78%). Hepatic copper determination remains the gold standard for the diagnosis of WD. We have designed a standard method for hepatic copper determination. The most useful cut-off value is 209 g/g dry wt using our method, with the sensitivity of 99.4%, and specificity of 96.1%. However, long-standing hepatic failure and or obstruction can cause heptic copper elevations into the WD area. In recent years, direct complete DNA sequencing has become easy, rapid, less expensive and commercially available. Currently reported mutation detection rate is 90%, the specificity is almost 100%. The limitation to the method has been the ability to identify all the affected alleles in suspected individuals. If no mutation is identified, the diagnosis of WD could not be excluded. None of the laboratory parameters alone allows a definite diagnosis of WD. The WD diagnostic scoring system based on a composite of key parameters helps clinicians to gauge the degree of certainty of the diagnosis: WD scores greater than 4, the diagnosis of WD is highly likely; score 0 or 1, the diagnosis is unlikely. However, the WD diagnosis could not be excluded in suspected patients who do not perform genetic test and hepatic copper determination. Patients with chronic cholestatic liver disease may have scores more than 4.

Re-evaluation of the diagnostic criteria in mild Wilson Disease / 中国医师杂志

Objective With the development of children 's health care policy, mild Wilson Disease as the first symptom of pa-tients is increasing.In this study, we assessed the reliability of the 2001 international general standards of the Wilson Disease diagnos -tic score.Methods Twenty -one cases of Wilson Disease in children (11 cases were boys, 10 cases were girls, average age was 3 ~10.8 years) included in the study, other 21 cases with liver disease were age-matched and gender-matched.There were no clinical symptoms, only with abnormal liver function in laboratory tests .All the patients with Wilson Disease were all confirmed through genetic diagnosis.Results Receiver operating characteristic (ROC) curve analysis showed that at 20 mg /L threshold, the sensitivity of cer-uloplasmin was 93.4% (95% CI : 81.2% ~98.8%), the specificity was 81.8 (95% CI : 71.6% ~93.6%); urinary copper diag-nostic threshold was 40μg/L/24h, the sensitivity was 75.9% (95% CI :61.7% ~92.4%); the specificity was 89.9% (95% CI :73.7% ~96.6%).WD scoring diagnostic system of the positive and negative predictive values as high as 93% and 91.6%.Penicil-lamine load test in Wilson Disease and control groups , no significant difference between the ROC curve showed a sensitivity of only 10%.Conclusions WD scoring diagnostic system in the mild Wilson Disease patients still has a high diagnostic specificity , but peni-cillamine load test does not have diagnostic significance in some patients .