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Washington University Experience | VASCULAR | Hypoxia-Ischemia, fetal-neonatal | White Matter | 15A0 Case 15 History
Case 15 History ---- The patient was an 81 day old male born prematurely to a G4P3 31 year old female at 32 weeks gestation on 9/10. Apgars following vaginal delivery were 4 and 8 at 1 and 5 minutes, respectively. His birth weight was 1440 grams. Shortly after delivery he developed respiratory distress requiring 100% CPAP and was transferred to an OSH. An umbilical artery catheter was in place temporarily and was radiographically present at T9. He was extubated two days later and begun on parentally supplemented gavage feeds. On 9/27 he developed abdominal distention and emesis for which he was cultured (negative), started on antibiotics and made NPO for ten days. On 10/6 he developed left ventricular failure and pulmonary edema which required intubation, digitalization, Lasix, fluid restriction and blood transfusions. He was extubated and restarted his gavage feedings. On 11/1 he again acutely developed heart failure requiring intubation and IPPB. On the following day he improved, was extubated and subsequently transferred to SLCH for evaluation of his congestive heart failure. Initial physical examination showed a lethargic, cachectic infant in mild respiratory distress. The initial height was 43 cm, OFC 33 cm, and weight was 1420 grams. Neurologic examination showed lethargy and diminished consciousness, however, it was otherwise non focal. The initial cardiology workup included a chest radiograph (massive cardiomegaly, pulmonary venous congestion and edema, RLL infiltrate), an electrocardiogram (axis-90, posterior hypertrophy, ST-T wave changes) and two dimensional echocardiography (severe hypocontractility of both RV and LV, dilated LV and LA, normal cardiac structure, no R to L shunt) consistent with a congestive cardiomyopathy, etiology unknown. His initial problem list, in addition to his cardiomyopathy included prematurity and malnutrition. The hospital course was complicated. The etiology of the congestive cardiomegaly was never found and in the course of evaluation the following were considered and ruled out: electrolyte disturbances, hypothyroidism, viral infections, and carnitine deficiency. Initially he required mechanical ventilation, inotropic support and diuretics. Parenteral nutrition was instituted via a central venous access site. Transfusions were administered for anemia and methicillin and gentamicin were begun because of questionable sepsis. Episodes of bradycardia and hypotension occurred. The CPK was elevated with the MB fraction increased, however, no infarctions were seen on thallium scan. The head ultrasound examination showed extensive anterior and possible posterior periventricular leukomalacia. Over the initial few days the infant became more vigorous and was weaned to room air. He continued on a dopamine and dobutamine drip, digoxin, aldactazide and apresoline which was temporarily discontinued on 11/13. Enteral feeding began on 11/13 with low lactose containing supplements. On 11/18 jaundice developed with a total bilirubin of 19.2, direct 12.2, SGOT 79, and SGPT 117. The initial hepatic transaminases (11/4) had been markedly elevated into the 5,000 range. The oral feeds and central line were discontinued. Blood cultures were positive for Staph epidermidis. An abdominal ultrasound (11/21) showed an echogenic left kidney and normal bile ducts and gallbladder. Liver function tests at that time elevated. On 11/22 right atrial thrombus was documented consistent with the previous central line. A galactosemia screen was negative, however, the definitive test for the enzyme galactose-1-phosphate uridyltransferase showed it to be absent. On 11/29 the patient acutely developed bradycardia and lost spontaneous respirations. Despite resuscitative efforts he expired. ---- Autopsy showed galactosemia and periventricular infarction, bilateral, extensive, cystic and remote. The CNS pathology of galactosemia is not well-characterized or specific; in any event, with extensive pathology attributable to hypoxic/ischemic insult present, the contribution of galactosemia to the histologic picture was unclear.
