Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Cholangitis

Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.

Total: 2

(per page)

PMID (PMCID)
21901661	FEMALE
	Atypical presentation of Wilson disease.
	Wadera S, Magid MS, McOmber M, Carpentieri D, Miloh T. Semin Liver Dis. 2011;31(3):319-26.
	The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on.
21901661	FEMALE
	Atypical presentation of Wilson disease.
	Wadera S, Magid MS, McOmber M, Carpentieri D, Miloh T. Semin Liver Dis. 2011;31(3):319-26.
	The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on.