PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■Bardet-Biedl综合征（BBS）也称为Laurence-Moon-Bardet-Biedl综合征，是一种罕见的以智力障碍为特征的遗传性疾病，肢体,肾脏异常,肥胖，棒锥营养不良.其他相关疾病包括糖尿病，高血压,性腺功能减退,面部畸形,先天性心脏缺陷.该病例突出了与BBS相关的巨幼细胞性贫血。
■一位16岁的女性患者，有一张月亮脸，躯干肥胖，多指,低智商,视力障碍表现为呼吸急促和容易疲劳。她的眼睛有双侧视网膜色素变性，她的实验室评估和骨髓活检显示维生素B12缺乏继发的巨幼细胞性贫血。她接受了可注射的维生素B12叶酸,和红细胞对抗输血。她的症状有所改善，口服药物出院。
■很少报道BBS中的巨幼细胞性贫血，需要进一步研究以找到正确管理和更好结果所必需的确切原因。
■一位16岁的女性患者，有一张月亮脸，躯干肥胖，多指,低智商,视力障碍表现为呼吸急促和容易疲劳。她的眼睛有双侧视网膜色素变性，她的实验室评估和骨髓活检显示维生素B12缺乏继发的巨幼细胞性贫血。她接受了可注射的维生素B12叶酸,和红细胞对抗输血。她的症状有所改善，口服药物出院。
■很少报道BBS中的巨幼细胞性贫血，需要进一步研究以找到正确管理和更好结果所必需的确切原因。
