S2755 Subclinical Liver Involvement in Wilson's Disease

Abstract

Introduction: Wilson’s disease is an autosomal recessive disorder resulting in defective cellular copper transport. End-organ damage due to copper accumulation in the liver and brain disease (hepatolenticular degeneration) is the most common clinical manifestation. Case Description/Methods: A 29 year old woman was evaluated at the emergency department for a suicidal gesture. During the initial evaluation, she admitted she did not want to kill herself but was rather seeking immediate help for issues that she felt had been unattended to. Her complaints included bilateral leg pain associated with muscle cramps, stiffness, weakness, symmetric resting and intentional tremors, ataxia and depressed mood evolving over the previous six months. The patient had been diagnosed with a variety of psychiatric disorders. The patient stated she had moved to Indiana shortly after Hurricane Maria and returned to PR at the onset of the present illness. No family history of neurologic or liver disease. The physical exam revealed an unaltered mental status, flat affect, facial grimacing, cogwheel rigidity of the upper extremities with mild muscle weakness, bradykinesia, dystonia, fasciculations, muscle wasting, choreoathetosis and a Parkinsonian gait. Hepatomegaly or stigmata of cirrhosis were not found. Initial laboratories were negative for anemia, thrombocytopenia, coagulopathy or hyperbilirubinemia, as was serology for Lyme disease, syphilis, hepatitis and HIV. Moreover, transaminases, inflammatory markers, ANA, ASMA, ammonia and aldolase levels were also all normal. Brain MRI suggested encephalopathy. CSF revealed no pleocytosis. The working diagnosis was encephalitis, possibly infectious or autoimmune, and the patient was initially treated with antibiotics & intravenous glucocorticoids. An elevated AFP was reported which led to an abdominal CT scan that revealed hepatomegaly with heterogeneous enhancement throughout the liver parenchyma and surface nodularity. Ophthalmology evaluation showed Kaysher-Fleischer rings. Low ceruloplasmin levels, high urine copper levels and liver biopsy were all confirmatory of Wilson’s disease, and the patient was treated with penicillamine. Discussion: This case report emphasizes the importance of ruling out organic disease before diagnosing a psychiatric illness. A young patient with neurological symptoms in the absence of evident liver disease at presentation should prompt evaluation for uncommon disorders such as Wilson’s disease.