Garg Meenal, Ramzan Mohammed, Kumawat Anand, Mittal Jaikrishan, Katewa Satyendra, Gupta Piyush
Department of Pediatric Neurology, Neoclinic Children Hospital.
Department of Pediatric Hemato-oncology, Manipal Hospital.
J Pediatr Hematol Oncol. 2020 Aug;42(6):e511-e512. doi: 10.1097/MPH.0000000000001453.
Factor X deficiency is a severe inherited coagulation disorder, which is characterized by severe systemic bleeding manifestations in affected individuals. It is a rare disorder with a frequency of around 1:1,000,000 in the general population. We present the case of an infant with factor X deficiency who presented with complex febrile seizure. Although febrile seizures are very common in children, a closer scrutiny leads to neuroimaging and finding of intracranial bleed. Hematologic and genetic investigations confirmed the diagnosis. A high index of suspicion should be maintained to diagnose uncommon bleeding disorders in children.
因子X缺乏症是一种严重的遗传性凝血障碍,其特征是受影响个体出现严重的全身性出血表现。这是一种罕见的疾病,在普通人群中的发病率约为1:1,000,000。我们报告一例患有因子X缺乏症并伴有复杂性热性惊厥的婴儿病例。虽然热性惊厥在儿童中非常常见,但经过更仔细的检查发现了神经影像学异常及颅内出血。血液学和遗传学检查确诊了该疾病。对于诊断儿童罕见出血性疾病应保持高度的怀疑指数。