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

Boonchai Boonyawat; Mongkon Charoenpitakchai; Piradee Suwanpakdee

doi:10.1155/2019/6091059

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

Case Rep Neurol Med. 2019 Sep 16:2019:6091059. doi: 10.1155/2019/6091059. eCollection 2019.

Authors

Boonchai Boonyawat¹, Mongkon Charoenpitakchai², Piradee Suwanpakdee³

Affiliations

¹ Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, Thailand.
² Department of Pathology, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, Thailand.
³ Division of Neurology, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, Thailand.

Abstract

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.

Publication types

Case Reports