Winner of the Clinical Quiz Dr Vibhu Agarwal MD Pediatrics Senior Resident ABVIMS and RML Hospital, Delhi. Question 1: Mention the findings in the eye shown in Image 1a (torch light examination) and Image 1b (slit-light examination)? Image 1: (a) torch light examination of the eye, (b) slit lamp examination of the eye, (c and d) magnetic resonance imaging of the brain, T2 FLAIR imagesAnswer: Kayser–Fleischer (K-F) ring. K-F ring is a gold or green-brown opacity in the periphery of the cornea. It represents deposition of copper and sulfur granules in the Descemet’s membrane of the cornea and is reversible with treatment. 1, 2 Although, K-F ring can be visible with the naked eye, a slit-lamp examination is necessary for confirmation. Question 2: What is the diagnosis in this patient? Answer: Wilson’s disease (WD). The K-F ring could be present in more than 90% patients with neurologic manifestations. 1, 2 Question 3: What does the video demonstrate Video 1? "href": "Single Video Player", "role": "media-player-id", "content-type": "play-in-place", "position": "float", "orientation": "portrait", "label": "Video 1. ", "caption": "", "object-id": {"pub-id-type": "doi", "id": "", "pub-id-type": "other", "content-type": "media-stream-id", "id": "1ᵣao18qsi", "pub-id-type": "other", "content-type": "media-source", "id": "Kaltura"} Answer: The video demonstrates chorea and multifocal myoclonus. Chorea is a frequent, brief, jerky, non-rhythmic, purposeless, dance-like involuntary movements. 3 One typical sign of chorea is motor impersistence, as seen in the fluctuating strength of the grip, the so-called “milkmaid’s grip. ” Chorea occurs as a result of disruption of the complex neuronal networks that interconnect the basal ganglia, thalamus, and related frontal lobe cortical areas. 4 Myoclonic jerks are sudden, quick, involuntary shock-like muscle jerks. Neurologic symptoms in WD are caused by copper toxicity in the basal ganglia, thalamus, cerebellum, and upper brainstem. Question 4: Describe the findings in magnetic resonance imaging of the brain in Image 1c and d Answer: Image 1c: Axial T2 FLAIR image showing symmetric hyperintensity involving heads of bilateral caudate nuclei (yellow arrowheads), bilateral putamina (yellow arrows), and ventrolateral thalami (white arrows) ; Image 1d: Axial T2 FLAIR image showing hyperintensity involving the dorsal pons (white arrow). Question 5: What is the treatment of the condition? Answer: Drug therapy for WD includes copper chelating agents such as D-penicillamine or Trientine, along with a low-copper diet. Zinc salts are being increasingly used in the treatment of WD. Screening of siblings of affected patients is essential to start therapy in presymptomatic patients, to prevent progression of WD. Comments by Dr. Ankita Patel (Section Editor) This quiz emphasizes the importance of early recognition and timely management of Wilson disease in adolescents presenting with movement disorders. It illustrates how careful correlation of clinical, radiologic, and laboratory findings can guide prompt intervention and improve outcomes. We are pleased to see a good number of participants engaging with this quiz, reflecting keen interest and enthusiasm in pediatric neurology. We warmly encourage all readers to continue participating in future quizzes, as they provide an excellent opportunity for learning and staying updated in pediatric practice. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Pai et al. (Wed,) studied this question.