RESUMO
Ultrasound showing an anechoic collection with interspersed echogenic foci (blue arrows - gas bubbles) proximal to the hyperechoic bone flap (red asterisk; post-decompressive craniectomy). Serratia marcescens was isolated from the collected fluid. Bedside ultrasound can be a reliable and effective tool to aid in the diagnosis of bone flap infections.
Assuntos
Craniectomia Descompressiva , Humanos , Craniectomia Descompressiva/métodos , Retalhos CirúrgicosRESUMO
The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as protein S deficiency, 2 diseases that contrast in their intrinsic bleeding/thrombotic risk. The patient's high-risk pregnancy was carried out up to a successful full-term eutocic delivery which required fibrinogen concentrate to reduce life-threatening bleeding. The patient's child was also diagnosed with hypofibrinogenaemia, later on confirmed with the pathogenic mutation Fibrinogen Marseilles II. This case was used to conduct a literature review of congenital fibrinogen disorders, rare entities that require more awareness for early diagnosis and accurate management. LEARNING POINTS: Fibrinogen disorders are uncommon causes of either bleeding or thrombotic events and may be acquired or inherited in a recessive or dominant autosomal manner.Congenital fibrinogen deficiencies are rare but should be investigated when undergoing diagnostic work-up for thrombotic or haemorrhagic events in adult years.Determination of molecular defects is important for confirmation and to elaborate a treatment strategy according to the inherent risk for either thrombotic or haemorrhagic events.