Giant infiltrative cavernous malformation: clinical presentation, intervention, and genetic analysis: case report.

Abstract:

OBJECTIVE AND IMPORTANCE: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. CLINICAL PRESENTATION: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. INTERVENTION: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. CONCLUSION: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.

journal_name

Neurosurgery

journal_title

Neurosurgery

authors

Lawton MT,Vates GE,Quinones-Hinojosa A,McDonald WC,Marchuk DA,Young WL

doi

10.1227/01.neu.0000137277.08281.48

keywords:

subject

Has Abstract

pub_date

2004-10-01 00:00:00

pages

979-80

issue

4

eissn

0148-396X

issn

1524-4040

journal_volume

55

pub_type

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