title: Unusual presentation of haemophilia in two paediatric patients.
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.
authors.affiliation: University Hospital Pediatric Department, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Maia
authors.initials: M
authors.lastname: De Luca
authors.forename: Francesca I Calò
authors.initials: FI
authors.lastname: Carducci
authors.forename: Valeria
authors.initials: V
authors.lastname: Pansini
authors.forename: Valentina
authors.initials: V
authors.lastname: Coletti
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Tucci
authors.forename: Marco
authors.initials: M
authors.lastname: Cirillo
authors.forename: Maura
authors.initials: M
authors.lastname: Acquila
authors.forename: Maria Patrizia
authors.initials: MP
authors.lastname: Bicocchi
authors.forename: Patrizia
authors.initials: P
authors.lastname: D'Argenio
authors.forename: Matteo
authors.initials: M
authors.lastname: Luciani
mesh_terms: D005169:Factor VIII / Q000235:genetics / Q000378:metabolism; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography
chemical_list: D005169:Factor VIII