A Case Study of a Child With Mitochondrial Disease

A 4-year-old girl recently diagnosed with epilepsy presented to her pediatric advanced practice registered nurse (APRN) in a primary care clinic with 2 weeks of increased seizure activity after a medication change from carbamazepine to valproic acid. Symptoms also included a sudden increase in lethargy, ataxia, and drowsiness. She is co-managed by a pediatric neurologist for seizure control who was currently away from the office. Associated test results included a normal valproic acid level, elevated ammonia and liver function (Table 1), and an abnormal electroencephalogram reading; indicating a generalized process with ongoing focal-like features.

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