Giant infiltrative cavernous malformation: clinical presentation, intervention, and genetic analysis: case report.
OBJECTIVE
Cavernous malformations can present in children with a sporadic course of repeated hemorrhage and enlargement, but they are rarely aggressive, infiltrative, or multilobar. We present the case of a young boy with a complex cavernous malformation that evolved during the course of a decade to encompass the majority of his right cerebral hemisphere.


METHODS
A 16-month-old boy presented with seizures, and radiographic studies demonstrated a large cavernous malformation in his right frontal pole. During the next 10 years, his seizures became intractable, and he developed progressive left hand weakness and atrophy. His malformation infiltrated his entire right frontal lobe as well as portions of his right parietal lobe, temporal lobe, and deep gray matter structures.


METHODS
The patient underwent right hemicraniotomy and near total resection of the lesion. Pathological analysis revealed dilated, thin-walled vessels separated by small amounts of intervening astrogliotic brain consistent with cavernous malformation. The patient recovered to his baseline neurological condition and has had no seizure or hemorrhage since his operation. Genetic testing did not reveal mutations in either the CCM1 (KRIT1) or CCM2 (malcavernin) genes.


CONCLUSIONS
This case may represent an atypical variant of cavernous malformation best termed giant infiltrative cavernous malformation. Despite its unusual size, multilobar location, and aggressive infiltration, it can be managed effectively with standard surgical resection.
Lawton
Michael T
MT
Department of Neurological Surgery, University of California, San Francisco, San Francisco, California, USA. lawtonm@neurosurg.ucsf.edu
Vates
G Edward
GE
Quinones-Hinojosa
Alfredo
A
McDonald
William C
WC
Marchuk
Douglas A
DA
Young
William L
WL
D002426:Cavernous Sinus / Q000473:pathology* / Q000601:surgery*; D002648:Child; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D008297:Male