干旱区生态环境知识资源中心(Arid): A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases

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DOI	10.3171/2018.7.PEDS18292
	A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases
	Rubino, Sebastian 1; Qian, Jiang 2; Pinheiro-Neto, Carlos D.3; Kenning, Tyler J.1; Adamo, Matthew A.1
通讯作者	Rubino, Sebastian
来源期刊	JOURNAL OF NEUROSURGERY-PEDIATRICS
ISSN	1933-0707
EISSN	1933-0715
出版年	2019
卷号	23 期号:1 页码:98-103
英文摘要	Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. In this clinical report, the authors describe two brothers with a different familial syndrome. To the best of the authors' knowledge, this is the first report in the literature describing a familial syndrome caused by germline mutations in the Smoothened (SMO) gene and the first familial syndrome associated with hypothalamic hamartomas other than Pallister-Hall syndrome. The authors discuss the endoscopic endonasal biopsy and subtotal resection of a large hypothalamic hamartoma in one of the patients as well as the histopathological findings encountered. Integral to this discussion is the understanding of the hedgehog pathway; therefore, the underpinnings of this pathway and its clinical associations to date are also reviewed.
英文关键词	hypothalamic hamartoma Smoothened gene SMO Chiari malformation type I gelastic/dacrystic seizures oncology
类型	Article
语种	英语
国家	USA
开放获取类型	Bronze
收录类别	SCI-E
WOS记录号	WOS:000454629100013
WOS关键词	SONIC HEDGEHOG ; INDIAN HEDGEHOG ; DESERT HEDGEHOG ; HUMAN HOMOLOG ; PATCHED GENE ; GLI3 ; GROWTH ; SUPPRESSOR ; ENCODES ; PROTEIN
WOS类目	Clinical Neurology ; Pediatrics ; Surgery
WOS研究方向	Neurosciences & Neurology ; Pediatrics ; Surgery
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/217256
作者单位	1.Albany Med Ctr, Dept Neurosurg, Albany, NY USA; 2.Albany Med Ctr, Dept Pathol, Albany, NY USA; 3.Albany Med Ctr, Div Otolaryngol, Albany, NY USA
推荐引用方式 GB/T 7714	Rubino, Sebastian,Qian, Jiang,Pinheiro-Neto, Carlos D.,et al. A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases[J],2019,23(1):98-103.
APA	Rubino, Sebastian,Qian, Jiang,Pinheiro-Neto, Carlos D.,Kenning, Tyler J.,&Adamo, Matthew A..(2019).A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.JOURNAL OF NEUROSURGERY-PEDIATRICS,23(1),98-103.
MLA	Rubino, Sebastian,et al."A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases".JOURNAL OF NEUROSURGERY-PEDIATRICS 23.1(2019):98-103.