4th Year MBBS Student, Dow University of Health Sciences, Karachi, Pakistan.
Department of Paediatrics, Sindh Government General Hospital, Karachi, Pakistan.
J Pak Med Assoc. 2024 Aug;74(8):1575-1577. doi: 10.47391/JPMA.20051.
Fanconi Anaemia is an autosomal recessive disorder, which is characterised by progressive pancytopenia, café au lait spots (>50%), bruising, petechie, recurrent infections, short height (50%), and thumb and radial bone anomalies (40%). Herein, is presented a case of a lean emaciated female child, who presented with the chief complaints of fever, loose stools and decreased appetite for one month reported at Sindh Government General Hospital, Karachi, on February, 1, 2023. She had cutaneous findings of hyperpigmentation and café au lait spots and a tri-phalangeal thumb. On investigation, pancytopenia and a low reticulocyte count of 0.7% was also observed. Karyotype and chromosomal breakage test induced by Diepoxybutane confirmed her as a case of Fanconi Anaemia.
范可尼贫血是一种常染色体隐性遗传病，其特征为进行性全血细胞减少、咖啡牛奶斑（>50%）、瘀斑、瘀点、反复感染、身材矮小（50%）和拇指和桡骨异常（40%）。本文介绍了一个瘦弱的女性儿童病例，她于 2023 年 2 月 1 日在卡拉奇信德省政府总医院以发热、腹泻和食欲不振为主诉就诊。她有皮肤色素沉着和咖啡牛奶斑的发现，还有一个三叉状拇指。检查发现全血细胞减少和网织红细胞计数低至 0.7%。二环氧丁烷诱导的核型和染色体断裂试验证实她为范可尼贫血患者。
