BMJ case reports · 2017
Congenital hypofibrinogenaemia: a presymptomatic detection of an extremely rare bleeding disorder in preterm twins.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Breen Catherine Mary, Riazat Muhammad I, McCallion Naomi, Boyle Michael A
Аннотация
Twenty-eight-week-old preterm monochorionic-diamniotic twins were admitted to the neonatal intensive care unit secondary to low birth weight and mild respiratory distress syndrome. A low fibrinogen level of less than 0.5 g/L was detected following an abnormal full blood count. They required fibrinogen transfusions until 32 weeks corrected gestation to maintain adequate fibrinogen levels. Parental screening revealed that their mother had a previously undiagnosed hypofibrinogenaemia. Of note, her only symptom was menorrhagia. This may have implications on further pregnancies as it can be associated with spontaneous miscarriage and post-partum haemorrhage. Congenital hypofibrinogenaemia is a rare disorder and there are no reported cases from Ireland. A higher degree of suspicion for screening is required to detect new cases and demonstrates the benefits of checking parental levels in such situations.
Предметные рубрики MeSH
AfibrinogenemiaContinuous Positive Airway PressureDiagnosis, DifferentialFemaleFibrinogenHemorrhageHumansInfant, Low Birth WeightInfant, NewbornInfant, Premature, DiseasesInfusions, IntravenousIrelandMenorrhagiaPregnancyPregnancy, TwinPremature BirthPulmonary SurfactantsRare DiseasesRespiratory Distress Syndrome, NewbornTreatment OutcomeTwins, Monozygotic