Atypical Presentation of Wilson Disease

Abstract

A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics. She had remission with reinstitution of antibiotics. Liver biopsy revealed pronounced bile ductular reaction, bridging fibrosis, and hepatocytic anisocytosis and anisonucleosis with degenerative enlarged eosinophilic hepatocytes, suggestive of Wilson disease. Diagnosis of Wilson disease was further established based on the low serum ceruloplasmin, increased urinary and hepatic copper and presence of Kayser-Fleischer rings. 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.

Diagnostic challenges of Wilson’s disease presenting as acute pancreatitis, cholangitis, and jaundice

“…The low serum uric acid level found in our patient may be characteristic, although not diagnostic, of Wilson's disease and is caused by renal tubular defects [2] . The reversible coagulopathy with anemia observed in the present patient has also been previously described in a patient with Wilson's disease [20] . The pigmented gallstones associated with Wilson's disease are related to hemolytic episodes and might be a presenting feature of the disease [2][3][4][5][6][7][8] .…”

“…Cholelithiasis is frequently observed in female patients with Wilson's disease, but its incidence is not high among male patients with the disease. Acute cholangitis with bile duct stones has not been described in Wilson's disease, although edema of the gallbladder, mimicking acute cholecystitis and clinical cholangitis, but with normal bile duct imaging findings, has been reported [17,20] . The diagnosis of Wilson's disease in the presence of cholestasis or long-term bile duct obstruction is difficult and challenging.…”

“…Cholelithiasis, as a result of hemolysis and pigmented gallstone formation, has also been reported in Wilson's disease [10][11][12][13][14][15][16][17][18][19] . The atypical clinical presentation of cholangitis in patients with normal findings on bile duct imaging has also been reported [20] . However, pigmented gallstone pancreatitis and cholangitis, with concomitant obstructive jaundice, have not been reported as the presenting features of Wilson's disease.…”

Febrile Syndrome as a First Clinical Manifestation of Wilson Disease

“…Although in patients with the classical manifestations described by Kinnear Wilson in 1912 characterized by Kayser-Fleischer rings, neurological and hepatic symptoms the diagnosis seems to be easy [1,4], it is a challenge in those patients with atypical manifestations [5,6], such as our patient. The clinical manifestations are varied so the diagnostic is often difficult and delayed.…”

Neurologic Wilson Disease Presenting with Acute Delirium And Automatic Writing Behaviour: A Case Report

“…Various other organ systems such as cornea, reproductive system, bones, joints, heart, pancreas, skin and endocrine system may also be involved [3,5]. Kayser-Fleischer ring represent copper deposition in the descemet's membrane of the cornea [6]. Although Kayser-Fleischer ring is considered to be specific for neurological involvement of the disease, only 77.8-85.25% of WD patients with neurological involvement have been reported to have Kayser-Fleischer ring [7].…”