A 10-year-old girl presented with falls, subacute onset of dysarthria and ataxia. She showed notable neurological manifestations as follows: Flat affect and disinhibition Findings localizing to the cerebellum with choppy smooth pursuits on extra-ocular movements but no nystagmus Motor impersistence Dysmetria and ataxia Wide-based shuffling gait Positive Romberg test Failure to perform stress gait No choreoathetosis or dystonia but she had dysarthria with odd slow and halting speech. Increased transaminases were found, Kf ring was not observed in ophthalmologic examination and neuroimaging did not reveal any markable signs. ATP7B sequencing showed the presence of two pathologic variants c.3955c>T.
Elevated copper was found in liver biopsy. What can be the probable diagnosis? *This patient case is from the Docplexus Editorial Team for educative purposes only. Source:…
