Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality

Victor M. Lu, David J. Daniels

Research output: Contribution to journalArticlepeer-review

Abstract

Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with surgical intervention and found to harbor a de novo novel KRIT1 gene abnormality, which affected the nature of surveillance.

Original languageEnglish (US)
Pages (from-to)304-305
Number of pages2
JournalWorld neurosurgery
Volume130
DOIs
StatePublished - Oct 2019

Keywords

  • Cavernous malformation
  • Infantile
  • KRIT1
  • Mutation
  • Pediatric
  • Surgery

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

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