ABSTRACT
Case Presentation ..................................................................................................... 71 Differential Diagnosis .............................................................................................. 73 Treatment Strategy ................................................................................................... 74 Pathophysiology/Neurobiology of Disease .............................................................. 75 Long-Term Outcome ................................................................................................ 75 Clinical Pearls .......................................................................................................... 76 Suggested Reading ................................................................................................... 76
A 41-week-old female was born to a 23-year-old primigravida womanwho experienced decreased fetal movements several days beforedelivery. Fetal distress, indicated by bradycardia and loss of variability on fetal monitoring, was noted during labor. A neurologically depressed female infant wasdelivered and was transferred to a levelIII neonatal intensive care unit (NICU). Intrauterine growthrestriction was diagnosed based on a birthweight of 2400 gfor 39 weeks gestational age. Apgar scores were 3 at 1 minute,6 at 5 minutes, and 8 at 10 minutes. Minimal resuscitative efforts were needed. Within 7 hours after birth,the infant exhibited clinical seizures, characterized by multifocal
clonic movements conrmed on EEG recordings to representmultifocal seizures (Figure 8.1). Both head computed tomography (CT) and brain magnetic resonance imaging (MRI) revealed diffuse cerebral edema. The placental examination documentedvascular changes consistent with fetal thrombotic occlusivedisease, including hyalinized and avascular villi (Figure 8.2). A coagulation prole documented methyltetrahydrofolatereductase deciency with a high serum homocysteine level and homozygosity; mother was found to be a carrier. At 5 years of age, the child exhibited microcephaly, spastic quadriplegia, and intractable generalizedand focal seizures that began at less than 1 month of age (despite treatment with three antiepileptic medications).
