Presenter: Tyler Reimschisel, MD Preceptor: Harvey Singer, MD


October 07, 2002

Case 2 -- Update on Clinical Status

The infant in this case is now almost 3 years old. He has required a stepwise escalation in anticonvulsant therapy. He is currently receiving topiramate (15 mg/kg/day) and valproic acid (30 mg/kg/day). Phenobarbital, clonazepam, and zonisamide proved ineffective for controlling his seizures. A recent EEG showed no posterior basic rhythm, large amplitude diffuse slowing, multifocal spikes, and tonic events with electrodecremental response. He is also taking baclofen for severe spasticity. He receives therapeutic interventions through the state Infants and Toddlers Program. He has suffered recurrent otitis media infections and 2 life-threatening episodes of pneumonia. We have had numerous end-of-life conversations with his family during routine clinic visits. After a recent admission for pneumonia, he was discharged to a hospice program.

The following Table 1 summarizes the similarities and differences between Wilson's disease and Menkes disease.


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