巴德-比德尔综合征中的巨幼细胞贫血：一例罕见病例报告
Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.
作者信息
Hassan Subtain, Khan Qaisar Ali, Saravanan Priyadharshini, Iram Sumaira, Rohail Samia, Belay Naod F, Afzal Muhammad, Hadi Faiza Amatul, Pande Harshawardhan
机构信息
Khyber Teaching Hospital MTI KTH, Peshawar, Pakistan.
Pondicherry Institute of Medical Sciences, Pondicherry, India.
出版信息
Clin Med Insights Case Rep. 2023 Aug 14;16:11795476231193896. doi: 10.1177/11795476231193896. eCollection 2023.
BACKGROUND
Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS.
CASE PRESENTATION
A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication.
CONCLUSION
Megaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome.
背景
巴德-比埃尔综合征（BBS），也称为劳伦斯-穆恩-巴德-比埃尔综合征，是一种罕见的遗传性疾病，其特征为智力残疾、肢体和肾脏异常、肥胖以及视锥视杆营养不良。其他相关病症包括糖尿病、高血压、性腺功能减退、面部畸形和先天性心脏缺陷。本病例突出了与巴德-比埃尔综合征相关的巨幼细胞贫血。
病例介绍
一名16岁女性患者，有满月脸、躯干肥胖、多指畸形、低智商和视力障碍，主诉呼吸急促和易疲劳。她双眼患有双侧视网膜色素变性，实验室评估和骨髓活检显示为维生素B12缺乏继发的巨幼细胞贫血。她接受了注射用维生素B12、叶酸和红细胞悬液输血。她的症状有所改善，出院时带口服药物。
结论
巴德-比埃尔综合征中的巨幼细胞贫血鲜有报道，需要进一步研究以找出确切病因，这对于恰当的管理和更好的治疗结果是必要的。
Zotero 插件