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Abstract：
BACKGROUND: Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical manifestation of severe haemophilia in preterm infants poses a great challenge to the therapeutic team. As extreme prematurity is linked to an increased risk of central nervous system or gastrointestinal bleeding, a well-informed and balanced treatment from the first days of life is crucial to prevent long-term damage. Haemophilia is most commonly caused by inheriting defective genes, and can also be linked to skewed X inactivation and Turner syndrome. The coincidental occurrence of haemophilia A and Turner syndrome is extremely rare, with only isolated cases described to date. Hence, a multidisciplinary approach is needed.
METHODS: The authors report on a preterm girl (gestational age 28 weeks) diagnosed with haemophilia and Turner syndrome. The first manifestation of haemophilia was prolonged bleeding from injection sites on the second day of life. Indeterminate aPTT and factor VIII level < 1% confirmed the diagnosis of haemophilia A. Dysmorphic features which did not match the typical clinical picture of haemophilia, the female sex, and a negative paternal family history led to the diagnosis of Turner syndrome. While in hospital, the girl received multiple doses of recombinant factor VIII in response to prolonged bleedings from the injection sites and from a nodule on the girl\'s head, and before and after retinal laser photocoagulation. No central nervous system or abdominal cavity bleeding was observed. The substitutive therapy was complicated by the development of factor VIII inhibitor (anti-factor VIII (FVIII) antibodies). Treatment was continued with recombinant factor VIIa. This article aims at demonstrating the complexity of the diagnostics and treatment of a preterm child with two genetic disorders.
CONCLUSIONS: Haemophilia should always be considered in the differential diagnosis of prolonged bleeding, even in patients with a negative family history. In the case of coinciding atypical phenotypic features, further diagnostics for another genetic disease are recommended. Infant care should follow current care standards, while considering certain individual features.
METHODS: The authors report on a preterm girl (gestational age 28 weeks) diagnosed with haemophilia and Turner syndrome. The first manifestation of haemophilia was prolonged bleeding from injection sites on the second day of life. Indeterminate aPTT and factor VIII level < 1% confirmed the diagnosis of haemophilia A. Dysmorphic features which did not match the typical clinical picture of haemophilia, the female sex, and a negative paternal family history led to the diagnosis of Turner syndrome. While in hospital, the girl received multiple doses of recombinant factor VIII in response to prolonged bleedings from the injection sites and from a nodule on the girl\'s head, and before and after retinal laser photocoagulation. No central nervous system or abdominal cavity bleeding was observed. The substitutive therapy was complicated by the development of factor VIII inhibitor (anti-factor VIII (FVIII) antibodies). Treatment was continued with recombinant factor VIIa. This article aims at demonstrating the complexity of the diagnostics and treatment of a preterm child with two genetic disorders.
CONCLUSIONS: Haemophilia should always be considered in the differential diagnosis of prolonged bleeding, even in patients with a negative family history. In the case of coinciding atypical phenotypic features, further diagnostics for another genetic disease are recommended. Infant care should follow current care standards, while considering certain individual features.
摘要：
背景：A型血友病是一种X连锁遗传病，主要表现在出生后2年的男性儿童中，在粗大运动技能发展过程中。这种疾病在女性中很少见。早产儿严重血友病的临床表现对治疗团队构成了巨大挑战。由于极度早产与中枢神经系统或胃肠道出血的风险增加有关，从生命的第一天开始就采取明智和平衡的治疗方法对于防止长期损害至关重要。血友病最常见的原因是遗传有缺陷的基因,也可能与偏斜X失活和特纳综合征有关。同时发生A型血友病和特纳综合征极为罕见,迄今为止只描述了孤立的病例。因此，需要多学科的方法。
方法：作者报道了一名诊断为血友病和特纳综合征的早产女孩（胎龄28周）。血友病的第一个表现是在生命的第二天从注射部位长期出血。不确定的aPTT和因子VIII水平<1%证实了A型血友病的诊断。女性的性别,和阴性的父亲家族史导致特纳综合征的诊断。在医院里，女孩接受了多剂量的重组因子VIII，以应对注射部位和女孩头部结节的长期出血，以及视网膜激光光凝前后。未观察到中枢神经系统或腹腔出血。因子VIII抑制剂（抗因子VIII（FVIII）抗体）的发展使替代疗法变得复杂。用重组因子VIIa继续治疗。本文旨在证明患有两种遗传性疾病的早产儿的诊断和治疗的复杂性。
结论：在长期出血的鉴别诊断中应始终考虑血友病，即使是家族史阴性的患者。在符合非典型表型特征的情况下，建议进一步诊断另一种遗传性疾病.婴儿护理应遵循当前的护理标准，同时考虑某些个体特征。
方法：作者报道了一名诊断为血友病和特纳综合征的早产女孩（胎龄28周）。血友病的第一个表现是在生命的第二天从注射部位长期出血。不确定的aPTT和因子VIII水平<1%证实了A型血友病的诊断。女性的性别,和阴性的父亲家族史导致特纳综合征的诊断。在医院里，女孩接受了多剂量的重组因子VIII，以应对注射部位和女孩头部结节的长期出血，以及视网膜激光光凝前后。未观察到中枢神经系统或腹腔出血。因子VIII抑制剂（抗因子VIII（FVIII）抗体）的发展使替代疗法变得复杂。用重组因子VIIa继续治疗。本文旨在证明患有两种遗传性疾病的早产儿的诊断和治疗的复杂性。
结论：在长期出血的鉴别诊断中应始终考虑血友病，即使是家族史阴性的患者。在符合非典型表型特征的情况下，建议进一步诊断另一种遗传性疾病.婴儿护理应遵循当前的护理标准，同时考虑某些个体特征。
