Kuzmanović Milos, Janković Borisav, Rasović-Gvozdenović Nada, Martić Jelena, Serbić Olivera
Institute for Health Care of Mother and Child of Serbia Dr Vukan Cupić, Belgrade, Serbia.
Vojnosanit Pregl. 2010 Oct;67(10):861-3. doi: 10.2298/vsp1010861k.
Hemophilia is the most frequently diagnosed inborn clotting factor deficiency in the newborn. In about half of the cases diagnosis is made during neonatal period. However, due to different clinical presentation comparing to older children, hemophilia in the newborn could be misdiagnosed, especially in the setting of negative family history.
Clinical features of three newborns with negative family history for hemophilia are described. All three newborns were the first born children with uneventful perinatal history, and they were referred for investigation of convulsions, soft tissue tumorous mass and sepsis, respectively. Prompt diagnosis of underlying bleeding disorder and adequate substitution therapy lead to the good outcome in all three boys.
Symptoms and signs of hemophilia in the newborn could be at time misleading and contribute to delayed treatment. High index of suspicion on inherited bleeding disorder is warranted in every neonate with intracranial bleeding.
血友病是新生儿中最常被诊断出的先天性凝血因子缺乏症。约半数病例在新生儿期得到诊断。然而，由于与大龄儿童临床表现不同，新生儿血友病可能被误诊，尤其是在家族史为阴性的情况下。
描述了3例血友病家族史阴性的新生儿的临床特征。这3例新生儿均为头胎，围产期病史正常，分别因惊厥、软组织肿瘤样肿块及败血症接受检查。及时诊断潜在的出血性疾病并进行充分的替代治疗，使3名男婴均取得了良好的预后。
新生儿血友病的症状和体征有时可能具有误导性，导致治疗延迟。对于每例颅内出血的新生儿，都应高度怀疑遗传性出血性疾病。
