Giant Cavernous Malformation Mimicking an Infiltrative Intracranial Neoplasm in Children - Case Report and Systematic Review of the Literature.

BACKGROUND: Giant cavernous malformations (GCMs) are rare and poorly-characterized neurovascular lesions in adults or children and often misclassified. In this study, we provide a review of pediatric GCM cases to highlight this rare entity as an important differential diagnosis in preoperative assessment. METHODS: We report a pediatric case of GCM that presented as an intracerebral, periventricular, and infiltrative mass lesion. We performed a systematic-review of published literature describing cases of GCM in children utilizing the PubMed, Embase, and Cochrane-Library databases. Studies describing cerebral or spinal cavernous malformation >4 cm were included. Demographic, clinical, radiographic and outcome data were extracted. RESULTS: 38 studies accounting for 61 patients were reviewed. The majority of patients were 1 up to 10 years-old and 55.73 % were male. Average lesion-sizes ranged between 4 and 6 cm (40.98 % >6 cm, 8.19 % >10 cm). Supratentorial localization was most common (75.40 %), with frontal and parieto-occipital regions being frequent localizations. Infratentorial lesions (24.60 %) were located within the cerebellum (16.39 %) and brainstem (8.19 %). One case of spinal-cavernoma was found. Main clinical manifestations: Seizures (44.26 %), focal neurological deficit (36.06 %), and headache (22.95 %). Imaging revealed contrast enhancement (36.06 %), cystic-features (27.86 %), and infiltrative growth pattern (4.91 %). CONCLUSIONS: GCMs display variable clinical and radiological features, representing a diagnostic challenge for treating surgeons. Imaging may reveal various tumor-like features such as cystic or infiltrative patterns with contrast enhancement. The existence of GCM should be considered preoperatively. Gross total resection should be attempted whenever possible, since it correlates with a good recovery and long-term outcomes. Also a clear definition criteria of when a CCM is termed as "giant" should be established.