Neurológia pre prax 1/2026
Wing-beating tremor and double panda sign in a patient with Wilson's disease – case report
In this case report, we present a 51-year-old patient who sought medical help for approximately 3 years of complaints of impaired limb mobility and coordination, altered behavior, speech articulation disorders, and gait disorders. Magnetic resonance imaging of the brain in T2-weighted images showed pathological changes in the mesencephalon namely the "face of the giant panda" sign and also the rarer "double panda sign" in pons Varoli. These MRI findings were corresponding with a metabolic disease with copper accumulation. Laboratory tests confirmed decreased serum copper and ceruloplasmin levels. Following these results, increased urinary copper excretion was found, confirming a presumed systemic disorder of copper metabolism. Additional eye examination confirmed the presence of Keyser-Fleischer rings in both eyes. Additional molecular genetic testing confirmed the pathogenic variant p.His1069Gln, c.3207C>A in the ATP7B gene in a homozygous state, thus confirming the presumptive diagnosis of Wilson's disease.
Keywords: Kayser-Fleischer ring, hepato-lenticular degeneration, ataxia, autosomal recessive disorder, tremors, copper accumulation.
