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Washington University Experience | VASCULAR | Hypoxia-Ischemia, fetal-neonatal | White Matter | 14A0 Case 14 History - Copy
Case 14 History ---- The infant is a 56 day old male who was born on 3/25 at 37 weeks of gestation to a 39 year old G1 P0 now P1 mother. The maternal antenatal history was unremarkable with negative serologies. The labor and delivery process was complicated by prolonged rupture of membranes and vacuum extraction . At birth the neonate had no initial respiratory effort and detectable heart rate and was intubated and resuscitated. Apgar scores were 0, 0 and 3 at 1, 5 and 10 minutes. An echocardiogram at 2 hours of life revealed moderate to severe persistent pulmonary hypertension. He was given empiric antibiotics following suspicious WBCs that were discontinued following negative cultures. On 04/17 genetic testing showed DM1 mutation with >1500 repeats consistent with myotonic dystrophy performed at Athena Diagnostics, Inc. On day 33 of life he was transferred to SLCH for further care. The infant's hospital course was complicated by pleural effusions, pneumothorax and the need for mechanical ventilation. A brain MR on 4/28 showed periventricular white matter changes with cystic encephalomalacia anterior to the frontal horns; a small brainstem, an enlarged ventricular system and subdural hematomas overlying the inferior left temporal lobe and posterior right cerebellum. The infant died on 5/20. ---- Autopsy demonstrated hypoxic/ischemic damage with periventricular white matter gliosis, cavitation and calcifications, mineralized axons and neurons in the thalamus, resolving left parietal lobe subependymal germinal matrix hemorrhage with subarachnoid extension. A Myotonic Dystrophy Type 1 gene defect was identified. There were some myopathic changes (fiber size variation, inflammatory cell collections) found in the skeletal muscle in the hematoxylin and eosin stained sections of this case. These changes are not specific, but demonstration of the gene defect myotonic dystrophy type (DM1) provides a definitive diagnosis.
