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Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature

Authors Conforti R, Cirillo M, Marrone V, Galasso R, Capaldo G, Giugliano T, Scuotto A, Piluso G, Melone MA

Received 12 June 2013

Accepted for publication 5 August 2013

Published 20 January 2014 Volume 2014:10 Pages 135—140


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Renata Conforti,1 Mario Cirillo,2 Valeria Marrone,1 Rosario Galasso,1 Guglielmo Capaldo,3 Teresa Giugliano,4 Assunta Scuotto,1 Giulio Piluso,4 Mariarosa AB Melone3,5

1Neuroradiology Unit, Department of Clinical and Experimental Medicine and Surgery, 2Radiology Unit, Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, 3Division of Neurology, Department of Clinical and Experimental Medicine and Surgery, 4Department of Biochemistry, Biophysics and General Pathology, School of Medicine, Second University of Naples, Naples, Italy; 5Institute of Protein Biochemistry, National Research Council, Naples, Italy

Abstract: Neurofibromatosis type 1 (NF1) is a relatively common single-gene disorder, and is caused by heterozygous mutations in the NF1 gene that result in a loss of activity or in a nonfunctional neurofibromin protein. Despite the common association of NF1 with neurocutaneous features, its pathology can extend to numerous tissues not derived from the neural crest. Among the rare cerebrovascular abnormalities in NF1, more than 85% of cases are of purely occlusive or stenotic nature, with intracranial aneurysm being uncommon. Predominantly, the aneurysms are located in the internal carotid arteries (ICAs), being very rare bilateral aneurysms. This report describes a very unusual case of fusiform aneurysms of both ICAs in a Caucasian NF1 patient, with a new pathogenic intragenic heterozygous deletion of the NF1 gene, presenting at age 22 years with Tolosa–Hunt syndrome, because of partial thrombosis of the left giant intracavernous aneurysm. Medical treatment with anticoagulant therapy allowed a good outcome for the patient. In conclusion, early identification of cerebral arteriopathy in NF1 and close follow-up of its progression by neuroimaging may lead to early medical or surgical intervention and prevention of significant neurologic complications.

Keywords: neurofibromatosis type 1, NF1 gene, multiplex ligation-dependent probe amplification (MLPA), intracranial aneurysms, Tolosa–Hunt syndrome

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