Giant posterior fossa cavernous malformations in 2 infants with familial cerebral cavernomatosis: the case for early screening.

The author reports the details in 2 cases of infants with familial cerebral cavernomatosis who presented in dire condition from hemorrhagic posterior fossa cavernous malformations. In Case 1, a 4-month-old boy presented with opisthotonos, gaze palsy, and lethargy. Magnetic resonance imaging revealed a multilobulated cavernous malformation in the fourth ventricle with evidence of bleeding and obstructive hydrocephalus. In Case 2, a 7-month-old girl presented with lethargy, followed by rapid neurological decline. Imaging demonstrated a large lesion involving both the brainstem and cerebellum, with obstructive hydrocephalus. Both patients required immediate surgical intervention, and external ventricular drainage and posterior fossa craniotomies were performed. Both patients made excellent recoveries. These cases suggest that infants in families with suspected or confirmed familial cerebral cavernomatosis should be screened at an early age.