Table of Contents
Washington University Experience | VASCULAR | Hypoxia-Ischemia, fetal-neonatal | White Matter | 19A0 Case 19 History
Case 19 History ---- This male infant was born via vaginal delivery at 39 weeks 3 days gestation to a 28-year-old G3P3 mother at an OSH on 7/29. The infant was noted to have decreased tone with no spontaneous respirations and was started on respiratory support. The infant was moderately to severely encephalopathic, and therapeutic hypothermia was begun at 3 hours of life. No seizure activity was seen on EEG. He experienced persistent metabolic acidosis with lactic acidosis and hyperglycemia of unknown etiology. He was noted to have cardiomegaly on chest x-ray, and an echocardiogram was concerning for pulmonary hypertension with patent ductus arteriosus. The etiology of his cardiorespiratory failure was also unclear. He was transferred to SLCH and began ECMO. On 7/31, head ultrasound demonstrated increasing multi-compartmental hemorrhage and diffuse edema in the setting of anticoagulation for ECMO. The family decided to redirect to comfort care and he passed away on that same day at an age of 2 days. Genetics was consulted prior to death and whole genome sequencing was ordered. It identified biallelic variants in FBXL4, which is associated with mitochondrial DNA depletion syndrome 13 (FBXL4-related disorder). The genetics team believed these variants, present in trans, likely explained his clinical picture.
