Diagnostic Considerations
Clinicians must maintain a high index of suspicion for Wilson disease, particularly in the presence of only mild elevation of transaminases, or isolated neuropsychiatric involvement. [2]
Conditions to consider in the differential diagnosis of Wilson disease might include the following:
-
Autoimmune chronic active hepatitis
-
Aceruloplasminemia
-
Glycogen-storage disease type 0
-
Glycogen-storage disease type I
-
Glycogen-storage disease type II
-
Glycogen-storage disease type III
-
Glycogen-storage disease type IV
-
Glycogen-storage disease type V
-
Glycogen-storage disease type VI
-
Glycogen-storage disease type VII
-
Hepatocellular adenoma
-
Cirrhosis
-
Multiple sclerosis
-
Huntington disease
-
Depression
-
Antisocial personality disorder
-
Parkinson disease
-
Leukodystrophy
-
CNS vasculitis
-
Leigh disease
-
Neurodegenerative disease
-
α1-antitrypsin deficiency
-
Chronic anemia
-
Hereditary hemochromatosis
Differential Diagnoses
-
Computed tomography (CT) scan in a 15-year-old boy who presented with central nervous system findings consistent with Wilson disease. The CT scan reveals hypodense regions in the basal ganglia (caudate nucleus, putamen, globus pallidus). The differential diagnosis based on this image alone included leukodystrophy, vasculitis, and, less likely, infection. Ventricular enlargement and posterior fossa atrophy may also be seen on brain CT scans in a patient with Wilson disease. The extent of involvement as depicted on CT scans does not provide prognostic information.
-
Approach to the diagnosis of Wilson disease (WD) in a patient with unexplained liver disease. KF = Kayser-Fleischer ring; CPN = ceruloplasmin. From the American Association for the Study of Liver Diseases Practice Guidelines.
-
In this particular case, there is abundant Mallory hyaline. Another notable finding is the moderate to marked chronic inflammation which involved most portal tracts and periportal/perinodular areas.
-
Prismaflex eXeed II adds citrate anticoagulation with integrated calcium management. Image courtesy of Gambro.
-
Molecular adsorbents recirculating system (MARS) circuit.
-
Biopsy specimen showing hepatocellular injury in an explant specimen from a patient transplanted for Wilson Disease.
-
Biopsy specimen showing a more detailed image of the cellular injury in acute Wilson disease.
-
Wilson disease biopsy specimen with rhodanine stain.
-
Wilson disease biopsy specimen with rhodanine stain (stain specific for copper deposition).