伴有口面部狭窄和脊髓栓系的帕利斯特-霍尔综合征：一例报告
Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.
作者信息
Hayek Femia
机构信息
Department of Pediatrics, Rafic Hariri University Hospital, Bir-Hassan, Jinah, Beirut, Lebanon.
出版信息
J Med Case Rep. 2018 Nov 29;12(1):354. doi: 10.1186/s13256-018-1868-8.
BACKGROUND
Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus.
CASE PRESENTATION
In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister-Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones.
CONCLUSIONS
This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Being familiar with such cases may allow improvement of our knowledge for better management in the future.
背景
帕利斯特-霍尔综合征是一种罕见的常染色体显性遗传病，其特征为多种先天性异常，包括下丘脑错构瘤、会厌裂或会厌缩短、多指畸形、肾脏异常以及肛门闭锁。
病例报告
在本病例报告中，我们描述了一名患有帕利斯特-霍尔综合征的13岁黎巴嫩裔亚美尼亚男孩的病例，该男孩出现了新的相关表现（口面部狭窄和脊髓栓系），并且在接受生长激素治疗后目前呈现出正常生长模式的自发性青春期。
结论
本病例报告展示了针对这种非常罕见综合征的一种实用治疗方法，主要是使用睾酮和生长激素，并对其进行长期随访。熟悉此类病例可能有助于提高我们的知识水平，以便未来能更好地进行管理。
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