Is Schimmelpenning Syndrome Associated with Intracranial Tumors? A Case Report.

Abstract:

:Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [1]. A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No HRAS or KRAS gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.

journal_name

Pediatr Neurosurg

journal_title

Pediatric neurosurgery

authors

Chiang MC,McDowell MM,Weaver K,Broniscer A,Greene S

doi

10.1159/000497149

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

201-206

issue

3

eissn

1016-2291

issn

1423-0305

pii

000497149

journal_volume

54

pub_type

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