The participant was delivered via C-section at 35 weeks gestation. The pregnancy was complicated by persistent nausea and vomiting (hyperemesis gravidarum), as well as decreased fetal movements. In early infancy, she exhibited sweating with feeding which led to the detection of an irregular heartbeat (Wolff-Parkinson-White syndrome), which was treated with … read more
During pregnancy, the mother of the participant developed a kidney infection that was treated with antibiotics and painkillers. Ultrasounds revealed that the participant’s legs were hyperextended at the knee, his feet were by his face, and his arms were to the side. After birth, he had trouble feeding and was … read more
At 3 months, the patient began having seizures (generalized tonic and complex partial seizures), which was confirmed by EEG. A head CT at this time was normal. An MRI at 7 months showed a small head size (microcephaly) and underdeveloped nerve fibers joining the hemispheres of the brain (hypoplasia of … read more
