Document Detail

Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.
MedLine Citation:
PMID:  22802474     Owner:  NLM     Status:  In-Data-Review    
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.
H Georgouli; K H Schulpis; H Michelakaki; M Kaltsa; T Sdogou; L Kossiva
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Publication Detail:
Type:  Journal Article     Date:  2010-12-29
Journal Detail:
Title:  BMJ case reports     Volume:  2010     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2010  
Date Detail:
Created Date:  2012-07-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Second Department of Pediatrics, P&A, Kyriakou, Children's Hospital, Athens University, Athens, Greece.
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