The skin as the mirror of the soul Familial Multiple Cavernous Malformation Syndrome in an infant with a ruptured intracranial cavernoma and multiple skin lesions

An 8-month-old infant that presented to our service with signs of increased intracranial pressure, seizures and radiographic findings of multiple intracranial cavernomas, most notably a left temporal cavernoma that had bled and was causing significant local mass effect. Outside the CNS, the infant had cutaneous manifestations of cavernous malformation syndromes. Surgical resection of the left temporal haemorrhage was pursued, and the infant recovered well. Subacute management involved ongoing clinical reviews, including repeat MRI scans, and regular propranolol use, aiming to reduce the incidence and burden of clinically significant haemorrhages, as well as levetiracetam for seizure control. Genetic testing confirmed the K-CRIT/CCM-1 gene mutation as the causative aetiology, with significance for this child and their immediate family. Furthermore, the lessons learned in this case illustrate the clinical findings and management considerations in an infant with intracranial haemorrhage secondary to a familial form of cavernous malformation syndrome.