CASE REPORTSUnusual presentation of haemophilia in two paediatric patientsDe Luca, Maia; Carducci, Francesca I. Calò; Pansini, Valeria; Coletti, Valentina; Tucci, Filippo M.; Cirillo, Marco; Acquila, Maura; Bicocchi, Maria Patrizia; D’Argenio, Patrizia; Luciani, MatteoAuthor Information aUniversity Hospital Pediatric Department bDepartment of OncoHematology cDepartment of Surgery dDepartment of Radiology eDepartment of Pediatrics, Bambino Gesù Children's Hospital, Rome fThrombosis and Hemostasis Unit, Giannina Gaslini Children's Hospital, Genoa, Italy Correspondence to Maia De Luca, Bambino Gesù Children Hospital, Piazza Sant’Onofrio 4, 00100, Rome, Italy Tel: +39 06 685 925 08; fax: +39 06 685 925 08; e-mail: email@example.com Received 14 November, 2012 Revised 25 January, 2013 Accepted 31 January, 2013 Blood Coagulation & Fibrinolysis: September 2013 - Volume 24 - Issue 6 - p 645-648 doi: 10.1097/MBC.0b013e32835fad85 Buy Metrics Abstract 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 24 h, 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. Copyright © 2013 YEAR Wolters Kluwer Health, Inc. All rights reserved.