A Rare Classical Presentation of Bardet-Biedl Syndrome in a Three-Year-Old Male from South East Nigeria: A Case Report
A Rare Classical Presentation of Bardet-Biedl Syndrome in a Three-Year-Old Male from South East Nigeria: A Case Report作者机构：Department of Paediatrics Abia State University Teaching Hospital Aba Nigeria
出 版 物：《Case Reports in Clinical Medicine》 (临床医学病理报告（英文）)
年 卷 期：2016年第5卷第8期
页 面：243-249页
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
主 题：Bardet-Biedl Syndrome Early Childhood South East Nigeria Classical Presentation Case Report
摘 要：Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the component of this syndrome in very young children. A 3-year old very obese male presented with clinical features of sepsis and congestive cardiac failure. He is a product of non-consanguineous marriage with unremarkable family history. Both parents are of the Ibo tribe in Nigeria. Polydactyly was noticed at birth. There was delay in some aspects of his developmental milestone. Examination revealed mild hypertelorism and retrognathia, polydactyly of both feet with syndactyly of the big and second toes. Other findings were short broad hands, mottled pigments on the retina, moderate mental retardation, hypogenitalism, nephrotic syndrome, renal tubulopathy, hyperglycaemia and hypopigmented skin lesions. A case of BBS with all the primary features and some secondary manifestations in a very young child is hereby reported. A high index of suspicion for BBS should be shown in any young child with at least one of the features of this syndrome. This will enhance earlier diagnosis and improve disease outcome.
维普期刊数据库