Case 250: Alpers-Huttenlocher Syndrome

History A 10-year-old girl with global developmental delay and attention deficit hyperactivity disorder was transferred from an outside hospital because of confusion and multiple episodes of left face and arm jerking. Physical examination revealed normal muscle bulk, strength, and tone in the bilateral upper and lower extremities but insuppressible left arm and jaw twitching Lumbar puncture revealed no white or red blood cells, a normal glucose level of 55 mg/dL (3.0 mmol/L) (normal range, 50-80 mg/dL [2.8-4.4 mmol/L]), and an elevated protein level of 81.6 mg/dL (normal range, 15-60 mg/100 dL). A comprehensive metabolic panel revealed lactic acidosis. The patient was initially started on levetiracetam, phenobarbital, phenytoin, and topiramate for status epilepticus. Hepatic dysfunction was not present at initial admission but developed 2 months later, with an alanine aminotransferase level of 90-406 U/L (1.5-6.8 μkat/L) (normal range, 8-37 U/L [0.13-0.62 μkat/L]) and aspartate aminotransferase in the range of 75-187 U/L (1.2-3.1 μkat/L) (normal range, 8-35 U/L [0.13-0.58 μkat/L]). Electroencephalography revealed right parietal and occipital spike-and-wave discharges, with bursts of up to 20 seconds, which were indicative of subclinical status epilepticus. The family history was remarkable for a sister with head lag, developmental delay, seizure disorder, and liver failure.