Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome

Case report

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Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.

Abbreviations used in this paper: AICA = anterior inferior cerebellar artery; MCA = middle cerebral artery; RBS = Roberts/SC phocomelia syndrome.

Article Information

Address correspondence to: Cormac O. Maher, M.D., Department of Neurosurgery, University of Michigan, 1500 East Medical Center Drive, Room 3552 Taubman Center, Ann Arbor, Michigan 48109-5338. email: cmaher@med.umich.edu.

© AANS, except where prohibited by US copyright law.

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Figures

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    Axial noncontrast head CT obtained at the time of patient presentation, showing a large intraparenchymal hemorrhage within the posterior fossa.

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    Sagittal CT angiogram showing a small outpouching of the AICA at the anterior margin of the intraparenchymal hematoma (arrow).

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    Axial T2-weighted MR image obtained following hematoma evacuation, showing no flow voids in the region of the hemorrhage.

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    Anteroposterior (left) and lateral (right) left vertebral artery angiograms showing distal saccular right posterior cerebral artery aneurysms (large arrows). Multiple areas of arterial narrowing and dilation are identified within the posterior fossa in the resection cavity (small arrows).

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    Anteroposterior (left) and lateral (right) left internal carotid artery angiograms showing saccular aneurysms (arrows) involving the distal left MCA, left pericallosal artery, distal left anterior cerebral artery, right MCA bifurcation, and distal right MCA.

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