Objective: Information on the occurrence of WD in the Kyrgyz Republic is currently missing. However, based on previously received epidemiological data to the territories of the USSR; its minimum score can range from 0.29 to 2.6 per 100,000 population.

Background: Wilson disease (WD) results from a defect in hepatocellular copper transport, leading to the accumulation of copper in the liver and other tissues, including the brain. Over time, the damage from the accumulation of copper results in the hepatic, neurologic, and psychiatric manifestations of WD. It is found worldwide, with an estimated prevalence of 1 case per 30,000 live births in most populations.

Method: A 15-year-old boy presented with prominent extrapyramidal features consisting of rigidity, tremors  of right hand at rest and in action, shuffling gait, slurred speech and emotional lability last 1 year. At the age of 10-year old he had conjugated hyperbilirubinaemia and ascites and false negative results of  viral hepatitis.

Results: Genealogical analysis has revealed that grandparents had marriage of close relatives.   His serum ceruloplasmin level as well as urine copper level were elevated.   Ophthalmologist: Kayser-Fleischer rings in both eyes Magnetic resonance (MR) imaging showed only subtle hyperintense signal on T2/FLAIR images was seen in the lentiform nuclei, bilateral thalami and putamen.

Conclusion: Wilson disease does occur in Kyrgyz children, although the diagnosis is rarely made.We would like to draw attention  that in developing countries where DNA analysis is not available yet, diagnosis can be based only on  neurological examination, careful anamnesis and genealogical analysis.  A diagnosis of Wilson disease should be entertained in the evaluation of  children presenting with liver dysfunction and/or extrapyramidal neurological features.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-report-of-wilson-disease-in-a-kyrgyz-teenager/