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Erschienen in:
10.11.2016 | Images in Metabolic Medicine
Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt
Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 1/2017
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A term male infant presented at 48 h of age with apnea, lethargy, and seizures. Plasma ammonia was 1180 μmol/L, and biochemical studies (plasma citrulline <2 μM; urine orotate 1142 μg/ng creatinine) were consistent with a proximal urea cycle disorder (UCD). Initially, hyperammonemia improved with continuous renal replacement therapy (cRRT) and ammonia scavengers. Upon discontinuation of cRRT, hyperammonemia worsened and lactic acidosis developed, with coexistent fulminant hepatic and renal failure. Color Doppler ultrasound of the liver (Fig. 1a–d identified a large congenital intrahepatic portosystemic shunt (PSS) with enlarged middle hepatic vein (MHV) with abnormal tortuous portosystemic shunt to the left portal vein (LPV).
Fig. 1
Color Doppler ultrasound of the patient’s liver: a, c transverse and b, d longitudinal planesᅟ
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