Wilson Disease Presenting as Isolated Dysarthria in a Paediatric Patient: A Rare Case Report
Year: 2025
Type: article
Abstract: Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene. It involves the liver, brain, eyes, blood, kidneys, and endocrine glands. The usual manifestations are hepatic (approximately 40%), neurological (approximately 35%), or psychiatric (approximately 10%). Wilson disease without hepatic manifestations is rare. A nine-year-old girl presented to the paediatric outpatient department with two months of difficulty speaking and with occasional purposeless jerky movements for one and a half months. She had tremor while speaking for the past month. The rest of the general and systemic examination was normal. Neurological complaints in an adolescent girl raise suspicion of Wilson disease. Slit-lamp examination showed a Kayser–Fleischer ring. Serum ceruloplasmin was low, and Magnetic Resonance Imaging (MRI) brain showed basal ganglia involvement, which confirms the diagnosis of Wilson disease. The child was managed with copper chelating therapy (D-penicillamine and zinc acetate) and a low-copper-containing diet with supportive care. This case highlights that isolated dysarthria can be a presenting feature of Wilson disease, emphasising the importance of considering this diagnosis in patients with unexplained speech difficulties.
Authors: Hunny Verma, Dinkar Yadav, Pooja Ahlawat, Alok Khanna, Anjali Verma
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $275
OpenAlex ID: W7083579567
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