ABSTRACT
Case Presentation ................................................................................................... 105 Differential Diagnosis ............................................................................................ 106 Diagnostic Approach ............................................................................................. 106 Treatment Strategy ................................................................................................. 107 Long-Term Outcome .............................................................................................. 108 Pathophysiology/Neurobiology of Disease ............................................................ 108 Clinical Pearls ........................................................................................................ 108 Suggested Reading ................................................................................................. 108
The patient was born at term, without complications, to a 28-year-old female after an uneventful pregnancy. Her birthweight was 3.1 kg, and she was discharged at the same time as her mother. She met all of her early developmental milestones and was beginning to crawl, when at six months of age she became lethargic and was found to have a temperature of 38.5°C. She was noted to have jerking of one side of her body, which then spread to involve her entire body lasting less than 5 minutes. She was taken to the local children’s hospital where an electroencephalogram (EEG) and magnetic resonance imaging (MRI) scan of her brain were performed. Her mother was told these were normal and that her daughter had a complex febrile seizure (FS). There was no family history of epilepsy, with or without fever. The patient did crawl, but her development plateaued at cruising around furniture. Her speech never developed beyond two to three words. She continued to have seizures associated with fever. She followed up with the neurologist who repeated the previous studies, nding a similar MRI result but an EEG with very frequent, multifocal, independent spike and wave discharges, which at times appeared irregularly generalized. She underwent an extensive evaluation amino acids, including chromosomal microarray analysis, lysosomal enzymes, serum amino acids, urine (copper, amino acids, organic acids), spinal uid (lactate, biogenic amines), nerve (nerve conduction velocity), and muscle (biopsy for histology, electron microscopy, and mitochondrial enzymes).
