Rare phenotype of common treatable neurogenetic disorder: Wilson disease masquerading as mitochondrial disorder
Year: 2025
Type: article
Study design: Case Report
Abstract: Wilson disease (WD) presents with hepatic and/or neurological features. In this report, we present a child with neuro WD presenting with unusual acute neurological deficits. Seven-year-old girl born to a consanguineously married couple presented with acute-onset ataxia with weakness on the left side of the body in the past 20 days. On examination, weight, height and head circumference all were below the 3 rd centile, mini-mental state score of 23/30, dysarthria, power of 3/5 left side and 4/5 on the right side, exaggerated deep tendon reflexes, extensor planters, dystonia, tremors, choreoathetosis with short stepped wide-based gait. On investigation, elevated serum glutamic-oxaloacetic transaminase (SGOT) (80 IU/l), with normal ammonia, lactate and tandem mass spectrometry. Magnetic resonance imaging brain showed features of bilateral and symmetric involvement of the globus pallidus, putamen thalamus and tegmentum of the midbrain. Slit-lamp examination showed a Kayser-Fleischer ring in both eyes. Serum ceruloplasmin was low (3.6 mg/dL) with high 24-h urinary copper excretion (250 mcg/day). Exome sequencing identified a pathogenic homozygous missense variant c.3182G>A, p.(Gly1061Glu) in exon-14 of the ATP7B gene. To conclude, WD should be suspected in a child with acute neurological manifestations such as stroke-like episodes and movement disorder, as this entity is treatable.
Source: Karnataka Pediatric Journal
DOI: 10.25259/kpj_1_2025
Institution: Indira Gandhi Institute of Child Health
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4408649337