Factor X deficiency presenting as an intracranial bleed in a young infant

Sanyukta Sandeep Ghodke , Rishab Bhurat , Dhaarani Jayaraman , Sri Gayathri Shanmugam , Febe Renjitha Suman , Ramya Uppuluri , Rajakumar Padur Sivaraman , Julius Xavier Scott
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引用次数: 0

Abstract

Inherited Factor X deficiency is a rare bleeding disorder. It is inherited in autosomal recessive manner. The genotype and the phenotype are variable. The management is tailored as per individual patient. We hereby report an infant with severe Factor X deficiency who presented with recurrent intracranial bleeding needing prophylactic replacement of Factor X in the form of Fresh Frozen Plasma (FFP). She is currently 18 months of age and is having age-appropriate growth and development.
X因子缺乏表现为婴儿颅内出血
遗传性X因子缺乏症是一种罕见的出血性疾病。它以常染色体隐性遗传方式遗传。基因型和表现型是可变的。管理是根据每个病人量身定制的。我们在此报告一个严重的因子X缺乏婴儿,他表现为复发性颅内出血,需要以新鲜冷冻血浆(FFP)的形式预防性替代因子X。她现在18个月大,正在进行与年龄相适应的生长和发育。
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