A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome

Autor:	Boonchai Boonyawat, Mongkon Charoenpitakchai, Piradee Suwanpakdee
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	Neurology. Diseases of the nervous system RC346-429
Zdroj:	Case Reports in Neurological Medicine, Vol 2019 (2019)
Druh dokumentu:	article
ISSN:	2090-6668 2090-6676
DOI:	10.1155/2019/6091059
Popis:	Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/e4b94e50e5d54d699540cd4d2511d422 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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