Unusual presentation of haemophilia in two paediatric patients

Maia De Luca, Francesca I Calò Carducci, Valeria Pansini, Valentina Coletti, Filippo M. Tucci, Marco Cirillo, Maura Acquila, Maria Patrizia Bicocchi, Patrizia D'Argenio, Matteo Luciani

Research output: Contribution to journalArticlepeer-review


Haemophilia A is a rare X-linked recessive bleeding disorder caused by deficiency or functional defects in coagulation factor VIII (FVIII). Here, we report two cases of challenging diagnosis of haemophilia A because of unusual presentation. The first case is a 10-month-old female, admitted to our hospital because a neck mass appeared within the previous 24h, who had a past medical history consistent with recurrent spontaneous haematomas but no family history of bleeding disorders. Despite several radiological evaluations, only the histology of the mass defined the presence of a haematoma. Chromosomal analysis revealed a normal female karyotype and a de-novo mutation into the FVIII intron 22 associated with a skewed X chromosome inactivation. The second case is a male neonate with a history of seizures who underwent brain MRI that showed a suspicious vascular malformation on the quadrigeminal cistern, causing cerebellum compression and hydrocephalus. The clinical conditions of the child progressively worsened and blood tests revealed a severe deficit of FVIII levels. The radiological images were re-evaluated; vascular anomalies were excluded and the diagnosis of haematoma was made. Family history was negative for coagulation disorders. Molecular studies revealed a rearrangement of the FVIII gene involving intron 22. The haemophilia A diagnosis can be challenging. Lack of family history, difficulties in detecting haematomas by imaging techniques, female sex and neonatal age represent misleading factors that can delay the diagnosis.

Original languageEnglish
Pages (from-to)645-648
Number of pages4
JournalBlood Coagulation and Fibrinolysis
Issue number6
Publication statusPublished - Sep 2013


  • brain hematoma
  • children
  • factor VIII
  • female
  • haemophilia
  • X inactivation

ASJC Scopus subject areas

  • Hematology


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