Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


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PMID (PMCID)
26508179
 FEMALE Child
Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome.
Sirucek P, Sulakova A, Jirsa M, Mrhac L, Havel M, Kraft O.
Pediatr Int. 2015;57(5):981-5.
Infectious etiology of jaundice, autoimmune diseases, drug-induced liver injury, hemolytic anemia, 945-1 anti-trypsin deficiency, Wilson disease and Gilbert syndrome were ruled out.
20818742
 FEMALE Adult
Recurrent liver failure in a 25-year-old female.
Salek J, Byrne J, Box T, Longo N, Sussman N.
Liver Transpl. 2010;16(9):1049-53.
Elevated aminotransferases, jaundice, an elevated international normalized ratio, and confusion were typical of idiopathic ALF, and a low serum ceruloplasmin level initially led to a misdiagnosis of acute Wilson disease.