Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation.
We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. The mutation is a GA deletion in the core domain leading to a premature stop at codon 502. The child had severe deficiency with two episodes of intracerebral hemorrhage. He also developed spontaneous splenic rupture, an unusual complication of this disorder.
Khalife
Hassan
H
Children's Cancer Center of Lebanon and Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon.
Muwakkit
Samar
S
Al-Moussawi
Hayfa
H
Dabbous
Ibrahim
I
Khoury
Ruby
R
Peyvandi
Flora
F
Abboud
Miguel R
MR
D002648:Child; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000150:complications / Q000235:genetics*; D006474:Hemorrhagic Disorders / Q000150:complications; D006801:Humans; D008297:Male; D009154:Mutation; D012422:Rupture, Spontaneous; D013161:Splenic Rupture / Q000209:etiology*
D005176:Factor XIII