Atypical presentation of paediatric giant intraventricular cavernoma with familial cavernomatosis: Case report and literature review

Author(s): Fiorese Elena, Rodesch Marine, David Philippe, Coppens Sandra, Sculier Claudine, Lebrun Laetitia, De Witte Olivier, Fricx Christophe, Gilis Nathalie

Introduction: A giant cavernous malformation (GCMs) occurring during childhood is different to smaller cavernous malformations in clinical and imaging presentations and, at presentation, giant lesions are often mistaken for tumour lesion.

Observations: We report the case of a 2-year-old girl presenting a giant intraventricular cavernoma (63x52mm) with a family history of cavernous malformations. The lesion radiologically mimics a tumor arising from the choroid plexus, intensely enhancing after injection of gadolinium. The magnetic resonance imaging also revealed the presence of multiple micro cavernomas. The diagnosis of giant cavernous malformation was confirmed by histopathologic analysis. Trio exome sequencing identified a heterozygous pathogenic variant in KRIT1 and a heterozygous variant of unknown significance in PDCD10, both inherited from her symptomatic mother.

Conclusion: Our article describes for the first time a pediatric giant cavernoma presenting with a family history, a positive genetic testing and multiple cavernous malformations at diagnosis. There are not many case reports nor literature about those rare lesions. The diagnosis of GCMs should be always considered in both diagnostic and preoperative assessments in case of positive family history.