Abstract Details

Title Isolated Neurologic Manifestations of Adolescent-Onset Wilson Disease

Topic Child Neurology and Developmental Neurology

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-013

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.

Design/Methods N/A

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.

Authors/Disclosures
John Stockman (Children's Hospital Los Angeles) PRESENTER	The institution of an immediate family member of Dr. Stockman has received research support from National Science Foundation.
Claire Bogosian, BS MTM	Ms. Bogosian has nothing to disclose.
Laura Saucier, MD (Children’s Hospital Los Angeles)	Dr. Saucier has nothing to disclose.
Shafali Jeste, MD, FAAN (Children's Hospital of Los Angeles)	Dr. Jeste has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Roche Pharmaceuticals. Dr. Jeste has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche Pharmaceuticals. Dr. Jeste has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis Pharmaceuticals. Dr. Jeste has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN Continuum. The institution of Dr. Jeste has received research support from NIH. The institution of Dr. Jeste has received research support from DoD. The institution of Dr. Jeste has received research support from Dup15q Alliance.
Tena Rosser, MD (Childrens Hospital Los Angeles)	Dr. Rosser has received publishing royalties from a publication relating to health care. Dr. Rosser has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant with Children's Tumor Foundation. Dr. Rosser has received personal compensation in the range of $500-$4,999 for serving as a Speaker/consultant with Springworks Therapeutics.
Jonathan Santoro, MD (Department of Neurology, Children's Hospital Los Angeles)	Dr. Santoro has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Santoro has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Cycle Pharma. Dr. Santoro has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dianthus. Dr. Santoro has received personal compensation in the range of $500-$4,999 for serving as a Consultant for National Down Syndrome Society.
Nusrat Ahsan, MD	Dr. Ahsan has nothing to disclose.

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