Incidental Diagnosis of Wilsonʼs Disease: A Case Report

Abstract

Wilson's disease (WD) is a genetic disorder of copper metabolism caused by complete absence or dysfunction of a copper transporting enzyme which is a transmembrane protein ATPase (ATP7B) encoded on chromosome 13. The incidence of this condition is seen in 1 in 30 000 individuals. The presentation of WD is variable and usually involves the hepatic and neuropsychiatric systems with symptoms ranging from chronic liver disease, compensated or decompensated cirrhosis, fulminant liver failure, dystonia,choreiform movements, tremor, gait disturbances, personality changes and cognitive impairments which are attributed to copper accumulation. We present a case where routine imaging for a persistent problem considered to be chronic pelvic pain led to the diagnosis of WD. A 28-year-old female with history of longstanding depression and Type 1 Diabetes Mellitus was admitted with recurrent abdominopelvic pain. She had been hospitalized multiple times for evaluation of recurrent abdominopelvic pain. Her initial episode of abdominopelvic pain was evaluated with a CT Abdomen that showed a pelvic abscess which was managed surgically with complete resolution and since then, she has had extensive evaluation including serial imaging during subsequent hospitalizations which were negative for any acute process. During this admission, a repeat CT Abdomen showed new onset cirrhosis of the liver which was absent on previous imaging studies. Patient denied alcohol use and after a negative infectious, autoimmune and hematological workup, further laboratory evaluation showed low serum levels of ceruloplasmin (5.4 mg/dl) and an elevated 24 hour urine copper excretion (302 ug/d).Slit light examination of the eyes was negative for Kayser-Fleisher rings. MRI Brain showed T2 high signal intensity in the pons. She was empirically started on zinc gluconate. Genetic testing showed heterozygous mutation in the gene ATP7B and a diagnosis of Wilson's disease was made. Patient continues to be maintained on zinc therapy and is closely being followed as an outpatient for liver transplant evaluation. The diagnosis of WD can be easily missed and if diagnosed early could potentially prevent or reverse many of its serious manifestations. Despite the involvement of the hepatic and neurological system on imaging, our patient was completely asymptomatic which makes this case unique. Our case further reiterates the importance of always keeping WD on the differential in evaluating patients with cirrhosis.