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 journalArticle

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 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
Volume24
Issue number6
DOIs
Publication statusPublished - Sep 2013

Fingerprint

Factor VIII
Hemophilia A
Hematoma
Pediatrics
Introns
Hemorrhage
X Chromosome Inactivation
Vascular Malformations
Hematologic Tests
Hydrocephalus
Karyotype
Cerebellum
Blood Vessels
Histology
Seizures
Neck
Newborn Infant
Mutation
Brain
Genes

Keywords

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

ASJC Scopus subject areas

  • Hematology

Cite this

Unusual presentation of haemophilia in two paediatric patients. / De Luca, Maia; Carducci, Francesca I Calò; Pansini, Valeria; Coletti, Valentina; Tucci, Filippo M.; Cirillo, Marco; Acquila, Maura; Bicocchi, Maria Patrizia; D'Argenio, Patrizia; Luciani, Matteo.

In: Blood Coagulation and Fibrinolysis, Vol. 24, No. 6, 09.2013, p. 645-648.

Research output: Contribution to journalArticle

@article{d01ae59e225f407a99574e2d3b5c48d6,
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 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.",
keywords = "brain hematoma, children, factor VIII, female, haemophilia, X inactivation",
author = "{De Luca}, Maia and Carducci, {Francesca I Cal{\`o}} and Valeria Pansini and Valentina Coletti and Tucci, {Filippo M.} and Marco Cirillo and Maura Acquila and Bicocchi, {Maria Patrizia} and Patrizia D'Argenio and Matteo Luciani",
year = "2013",
month = "9",
doi = "10.1097/MBC.0b013e32835fad85",
language = "English",
volume = "24",
pages = "645--648",
journal = "Blood Coagulation and Fibrinolysis",
issn = "0957-5235",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

TY - JOUR

T1 - Unusual presentation of haemophilia in two paediatric patients

AU - De Luca, Maia

AU - Carducci, Francesca I Calò

AU - Pansini, Valeria

AU - Coletti, Valentina

AU - Tucci, Filippo M.

AU - Cirillo, Marco

AU - Acquila, Maura

AU - Bicocchi, Maria Patrizia

AU - D'Argenio, Patrizia

AU - Luciani, Matteo

PY - 2013/9

Y1 - 2013/9

N2 - 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.

AB - 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.

KW - brain hematoma

KW - children

KW - factor VIII

KW - female

KW - haemophilia

KW - X inactivation

UR - http://www.scopus.com/inward/record.url?scp=84882452536&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84882452536&partnerID=8YFLogxK

U2 - 10.1097/MBC.0b013e32835fad85

DO - 10.1097/MBC.0b013e32835fad85

M3 - Article

C2 - 23492911

AN - SCOPUS:84882452536

VL - 24

SP - 645

EP - 648

JO - Blood Coagulation and Fibrinolysis

JF - Blood Coagulation and Fibrinolysis

SN - 0957-5235

IS - 6

ER -