Category: Pediatric Movement Disorders
Objective: I have chosen this case to demonstrate an atypical presentation of Neuro-Wilson disease without a prominent hepatic involvement. I have also aimed to call attention to importance of multimodal therapy including pharmacotherapy, DBS as a part of neurosurgical approach and neurorehabilitation in the management of our case.
Background: A 14-year-old boy, first child born to third-degree consanguineous parents was brought to paediatric neurology outpatient department with complaints of slurred speech for 8 months, involuntary writhing movements of the hands, muscle contractions of both upper and lower extremities, progressive gait disturbance and worsening academic performance for 4 months. His developmental milestones were normal. Physical examination findings at presentation included low-arch of the soft palate on the left side with left deviated uvula, dysarthria, dysphagia, choreiform movements and rigidity in both hands, dystonic posture of lower extremities, increased deep tendon reflexes, and bilateral extensor plantar reflexes and gait disturbance. Other systemic examination and ophthalmic examination were normal. Brain magnetic resonance imaging of the patient revealed hyperintensities in bilateral putamen, globus pallidus, and caudate nucleus. Neurometabolic diseases and Neuro Wilson were considered in differential diagnosis. Serum ceruloplasmin level was 0.03 mg/ml. Although the patient did not have any symptoms for liver involvement, abdominal ultrasonography demonstrated minimal parenchymal heterogeneity. Whole-exome sequencing showed a homozygous variant in ATP7B: c.2071G>A (p.Gly691Arg) which is the 5th common variant accounting for 3.6% of 192 Wilson Disease alleles in Turkey
Results: Despite the increasing doses of trientine as copper chelator, levodopa/benserazide, baclofen, trihexyphenidyl treatments and neurological rehabilitation, there was no significant improvement in the neurological symptoms. Thus, deep brain stimulation (DBS) targeting putamen, globus pallidus, and caudate nucleus was performed for neurological symptoms. The patient is still continuing pharmacotherapy, DBS, and neurological rehabilitation exercises with neurological improvement.
Conclusion: At present, he is able to hold objects, sit on the chair, walk dependently, eat and drink.
To cite this abstract in AMA style:S. Bozkaya Yilmaz, N. Olgaç Dündar, G. Basarir, P. Gencpinar, A. Ersen. DBS Experience In A Pediatric Neurowilson Case [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/dbs-experience-in-a-pediatric-neurowilson-case/. Accessed December 5, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/dbs-experience-in-a-pediatric-neurowilson-case/