Severe haemophilia A in a neonate presenting as haemopneumothorax after tracheo-oesophageal fistula-oesophageal atresia repair

BMJ Case Rep. 2018 Nov 8:2018:bcr2018225526. doi: 10.1136/bcr-2018-225526.

Abstract

A male infant with oesophageal atresia and distal tracheo-oesophageal fistula (TEF type C) underwent right thoracotomy and transpleural repair of TEF on day 4 of life. He did not have a family history of coagulation disorders. A preoperative finding of prolonged partial thromboplastin time (PTT)>200 s was overlooked, and he went to surgery. There were no concerns with haemostasis prior to and even during the operation. The prolonged PTT was treated with one 10 mL/kg dose of fresh frozen plasma in the immediate postoperative period. On the fourth postoperative day, the infant developed a right haemopneumothorax, requiring fresh frozen plasma and packed cell transfusions. He was subsequently diagnosed with severe haemophilia A due to intron 22 inversion in the factor VIII gene, with factor VIII level <0.01 IU/mL.

Keywords: haematology (incl blood transfusion); neonatal intensive care; otolaryngology / ENT; paediatric surgery.

Publication types

  • Case Reports

MeSH terms

  • Blood Transfusion
  • Diagnosis, Differential
  • Esophageal Atresia / surgery*
  • Hemophilia A / complications*
  • Hemophilia A / diagnosis*
  • Hemophilia A / therapy
  • Hemopneumothorax / diagnosis
  • Hemopneumothorax / etiology*
  • Hemopneumothorax / therapy
  • Humans
  • Infant, Newborn
  • Male
  • Plasma
  • Thoracotomy
  • Tracheoesophageal Fistula / surgery*

Supplementary concepts

  • Esophageal atresia with or without tracheoesophageal fistula