John Stockman1, Claire Bogosian2, Laura E. Saucier1, Shafali S. Jeste1, Tena Rosser1, Jonathan D. Santoro1, Nusrat Ahsan1
1Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 2Keck School of Medicine, University of Southern California
Objective:
We report a case of Wilson Disease in an adolescent presenting with isolated neurological symptoms in the absence of symptomatic hepatic, psychiatric or ophthalmologic involvement.
Background:
Wilson Disease is an autosomal recessive disorder of copper metabolism wherein copper deposition causes liver failure, neurological symptoms, and/or psychiatric symptoms. Neurological signs may include tremor, chorea, parkinsonism, dysarthria, dystonia, gait abnormalities, and seizures although these classically present after hepatic manifestations.
Results:
A 15-year-old healthy female was admitted with new-onset seizures characterized as loss of consciousness with tonic posturing of the extremities. Her examination was notable for preserved mentation, bradykinesia, symmetric hypertonicity in all extremities, and magnetic gait. She had no psychiatric symptoms. EEG captured seizure activity with left frontal onset. Neuroimaging demonstrated symmetric T2 signal prolongation in the basal ganglia, midbrain, and thalami with symmetric SWI hypointensity in the basal ganglia. CSF testing was negative. Under the presumption of atypical autoinflammatory disease, she was treated with IV methylprednisolone and IVIg, demonstrating mild clinical improvement of gait abnormalities and bradykinesia. Collateral history from family detailed that gait changes and bradykinesia had gradually emerged five months prior to presentation, therefore diagnostic evaluation was broadened. Wilson Disease was considered given the patient's neurological examination and characteristic MRI findings. Workup revealed decreased serum ceruloplasmin, decreased serum copper, and elevated 24-Hour urine copper. Clinical exome sequencing revealed compound heterozygous, likely pathogenic ATP7B variants. Serum studies showed mild thrombocytopenia without transaminitis. Abdominal ultrasound showed mild hepatosplenomegaly and coarsened echotexture of the liver. Kayser-Fleischer rings were absent on slit-lamp evaluation. Following the diagnosis, she was referred to hepatology for copper chelation.
Conclusions:
Wilson Disease may rarely present with isolated neurological manifestations and absent or subtle hepatic findings. Symmetric abnormalities on SWI in the basal ganglia should prompt investigation of mineralization disorders.
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