Article Text

Download PDFPDF
Rare disease
Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1
  1. H Georgouli1,
  2. K H Schulpis2,
  3. H Michelakaki3,
  4. M Kaltsa1,
  5. T Sdogou1,
  6. L Kossiva1
  1. 1Second Department of Pediatrics, P&A, Kyriakou, Children's Hospital, Athens University, Athens, Greece
  2. 2Institute of Child Health, ‘Aghia Sophia’ Children's Hospital, Athens, Greece
  3. 3Department of Enzymology and Cellular Function, Institute of Child Health, ‘Aghia Sophia’ Children's Hospital, Athens, Greece
  1. Correspondence to L Kossiva, lydiakossiva{at}hotmail.com

Summary

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.

View Full Text

Statistics from Altmetric.com

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.