Severe hepatic Wilson's disease in preschool-aged children

• Published in: The Journal of pediatrics Vol. 137; no. 5; pp. 719 - 722
• Main Authors: Wilson, David C., Phillips, M.James, Cox, Diane W., Roberts, Eve A.
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.11.2000; Elsevier
• Subjects: Adenosine Triphosphatases - genetics; Biological and medical sciences; Carrier Proteins - genetics; Cation Transport Proteins; Child; Child, Preschool; Copper-transporting ATPases; Diagnosis, Differential; Female; Gastroenterology. Liver. Pancreas. Abdomen; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; Humans; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Medical sciences; Mutation; Other diseases. Semiology; ALT; WD; AST; Human; Preschool age; Nervous system diseases; Wilson disease; Metabolic diseases; Hepatic disease; Enzymopathy; Genetic disease; Case study; Etiology; Digestive diseases; Copper; Severe; Child
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1067/mpd.2000.108569

A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C , expected to destroy completely the functional gene product of ATP7B , the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver disease in the preschool-aged child. (J Pediatr 2000;137:719-22)