TY - JOUR
TI - Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.
AU - Georgouli, H.
AU - Schulpis, K.H.
AU - Michelakaki, H.
AU - Kaltsa, M.
AU - Sdogou, T.
AU - Kossiva, L.
JO - BMJ Case Reports
PY - 2010
VL - 2010
TODO - null
SP - null
PB - 
SN - 1757-790x
TODO - 10.1136/bcr.07.2010.3150
TODO - article;  blood clotting disorder;  case report;  classification;  Escherichia coli infection;  human;  infant;  male;  sepsis;  tyrosinemia, Blood Coagulation Disorders;  Escherichia coli Infections;  Humans;  Infant;  Male;  Sepsis;  Tyrosinemias, MLCS;  MLOWN
TODO - Hereditary tyrosinaemia type 1 (HT1) is caused by an enzymatic defect in tyrosine metabolism. It is an autosomal recessive disorder and affects both sexes equally. In young infants HT1 can present as severe liver involvement and in older infants as liver failure and renal tubular dysfunction together with growth failure and rickets. The authors report the case of a 5-month-old, previously healthy, male infant who presented with Escherichia coli sepsis and severe coagulopathy due to liver dysfunction. Despite the early diagnosis of HT1 and treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC), the patient died from severe coagulopathy and multi-organ failure.
ER -