PP-48. Fairly successful treatment of a patient with sulfur metabolism disorder and a new look to molybdenum metabolism

摘要: A preterm male, born by cesarean section for pericardial effusion and ascites at gestational age of 34 weeks with a birth weight 1770 g. The mother has methylenetetrahydrofolate reductase (MTHFR) heterozygous mutation was taking low molecular heparin treatment during pregnancy. Her two previous pregnancies ended intrauterine death other babies died the first 6 h after premature birth. At 10 delivery tense fontanel, seizures started. Amplitude integrated EEG (aEEG) monitoring CFM-Brainz (two channels cross cerebral) Natus® Early aEEG registration showed repetitive seizure activity burst suppression right hemisphere left side. Cranial ultrasonography 5×3 cm frontotemporal intraparenchymal hemorrhage shift. Platelet count 28,000/mm. Phenobarbital loaded, midazolam infusionwas started dose 0.1 mg/kg/ titrated to 0.2 mg/kg/h in next 4 h. As persisted, lidocaine infusion 36 which subsided lowered. On 6th day restarted he had multiple apneas, this time severe hemisphere. Second cranial no new hemorrhage. Midazolam levetiracetam. 8th day, his cytomegalovirus (CMV) polymerase-chain-reaction assay (PCR) urine blood found be positive, also developed bacterial sepsis, continued persisting thrombocytopenia having risk