EARLY AND SEVERE NEUROLOGICAL FEATURES IN A WILSON-DISEASE PATIENT COMPOUND HETEROZYGOUS FOR 2 FRAMESHIFT MUTATIONS

We describe a patient with Wilson disease who presented at 11 years of age with neurological symptoms and subsequent rapid progression of ne urological impairment but absent hepatic manifestations. Molecular ana lysis showed compound heterozygosity for two frameshift mutations, 229 9insC and 214delAT, which most likely result in an absent or inactive protein product. Mutation-phenotypic analysis indicates that this geno type does not explain the severe phenotype, suggesting the presence of modifying factors. Conclusion. Wilson disease may present even in chi ldhood or adolescence with neurological abnormalities in the absence o f hepatic manifestations.