Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31326642.
- Also identified by DOI 10.1016/j.wneu.2019.07.103.
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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.
Medical subject headings
- Hemangioma, Cavernous, Central Nervous System
- KRIT1 Protein
- Microtubule-Associated Proteins
- Mutation