ABSTRACT
Case Presentation ..................................................................................................... 79 Differential Diagnosis ..............................................................................................80 Diagnostic Approach ............................................................................................... 81 Treatment Strategy ................................................................................................... 82 Outcome ................................................................................................................... 82 Neurobiology/Pathophysiology of Disease .............................................................. 83 Clinical Pearls .......................................................................................................... 83 Suggested Reading ................................................................................................... 83
A 2-month-old girl was transferred from an outside hospital with medically intractable seizures that began on the second day of life. She was the product of an uncomplicated pregnancy, labor, and delivery. However, in retrospect, her mother reports the onset of episodes of occasional, unusually intense fetal movements about two months before delivery. The patient was treated with phenobarbital and did not have seizures for about 1 week. Her seizures then recurred and became increasingly frequent. An EEG was reported to be “abnormal” and an MRI scan was reportedly normal. She had an unremarkable metabolic workup. She received trials of folinic acid and pyridoxine, both of which were unsuccessful in controlling the seizures. The seizures began to increase in frequency and to cluster. She was intubated and treated with IV midazolam for several weeks. The seizures persisted in spite of intense therapy. She had repeated pulmonary infections that became life-threatening, and the midazolam was discontinued. At the time of transfer, she was on phenobarbital and zonisamide.
