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Washington University Experience | VASCULAR | Hypoxia-Ischemia, fetal-neonatal | White Matter | 6A0 Case 6 History
Case 6 History ---- The patient is a premature infant born on 09/18 at 31 weeks EGA to a 19-year-old G1P1 mother. Preterm labor began on 9/13, and the mother was treated with Celestone and magnesium. A prenatal ultrasound on 9/17 showed cerebral ventriculomegaly, polyhydramnios and no stomach bubble. The patient was born via C-section secondary to breech presentation on 9/18 after spontaneous rupture of membranes. At birth, the patient was noted then to have poor tone and no respiratory effort. Birth weight was 1255 grams. She received chest compressions and epinephrine for a heart rate less than 60, then was intubated at 30 minutes of life and transferred to the NICU at SLCH. Apgar scores were 1 at one minute, 1 at five minutes, and 1 at 10 minutes. On initial examination, she was noted to have no spontaneous respiratory effort, no spontaneous motor activity, and poor peripheral perfusion, as well as distal arthrogryposis of her hands and fixed flexion deformity at her elbows, multiple contractures, poor development of gluteal muscles and fixed extension deformity at her knees, consistent with arthrogryposis. A head ultrasound on day of life 1 showed bilateral subependymal hemorrhages with left and possibly right intraventricular hemorrhage, lateral and third ventricular dilatation, abnormal thalami bilaterally, and extra-axial fluid, subarachnoid versus subdural. A follow up brain MRI on day of life 3 showed early subacute venous thrombosis in the sigmoid and transverse sinuses, and changes associated with venous infarction as well as left cystic periventricular leukomalacia, right cystic encephalomalacia, abnormal sulcation/gyration pattern and abnormal dilated veins anterior to the spinal cord likely secondary to venous hypertension. She was treated with full ventilatory support, gentamicin and ampicillin for possible sepsis, TPN, and phototherapy for hyperbilirubinemia. On day 7 of life, she had episodes of desaturations and was found to be extubated, was given bag and mask ventilation with improvement of her O2 to 90’s and 100, and then was reintubated. Muscle biopsy and skin biopsy were performed. On day 8 was found to be jaundiced, with minimal spontaneous movement and gasping respirations. The upper extremities appeared contracted and the lower extremities appeared extended, with increased tone and no spontaneous eye opening. The patient was extubated after her prognosis was discussed with the family and was pronounced dead. The work up was remarkable for normal serum amino acids, elevation of multiple urine amino acids, in a pattern that did not suggest a specific metabolic disease, low antithrombin III activity, low Protein S, low Protein C, present Prothrombin G>A 20210 gene mutation (heterozygous), and present Methylenetetrahydrofolate reductase C677T mutation (heterozygous). ---- Autopsy showed hypoxic/ischemic damage, subacute and remote, severe, diffuse characterized by diffuse white matter astrocytosis with calcifications, mineralized neurons in the basal ganglia, thalamus and brainstem; neuron loss and astrocytosis in the hippocampus. Periventricular hemorrhage was not identified grossly but microscopic amounts of hemosiderin deposition were identified.
