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

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 Melone3,51Neuroradiology Unit, Department of Clinical and Experimental Medicine and Surgery, 2Radiology Unit, Department of Medical, Surgical,...

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Main Authors: Conforti R, Cirillo M, Marrone V, Galasso R, Capaldo G, Giugliano T, Scuotto A, Piluso G, Melone MA
Format: Article
Language:English
Published: Dove Medical Press 2014-01-01
Series:Neuropsychiatric Disease and Treatment
Online Access:http://www.dovepress.com/giant-thrombosed-intracavernous-carotid-artery-aneurysm-presenting-as--a15571
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spelling doaj-a16141214f3e401daa6deba3a58a44602020-11-24T22:22:30ZengDove Medical PressNeuropsychiatric Disease and Treatment1176-63282014-01-012014default13514015571Giant 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 literatureConforti RCirillo MMarrone VGalasso RCapaldo GGiugliano TScuotto APiluso GMelone MA 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 Melone3,51Neuroradiology 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, ItalyAbstract: 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 syndromehttp://www.dovepress.com/giant-thrombosed-intracavernous-carotid-artery-aneurysm-presenting-as--a15571
collection DOAJ
language English
format Article
sources DOAJ
author Conforti R
Cirillo M
Marrone V
Galasso R
Capaldo G
Giugliano T
Scuotto A
Piluso G
Melone MA
spellingShingle Conforti R
Cirillo M
Marrone V
Galasso R
Capaldo G
Giugliano T
Scuotto A
Piluso G
Melone MA
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
Neuropsychiatric Disease and Treatment
author_facet Conforti R
Cirillo M
Marrone V
Galasso R
Capaldo G
Giugliano T
Scuotto A
Piluso G
Melone MA
author_sort Conforti R
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Dove Medical Press
series Neuropsychiatric Disease and Treatment
issn 1176-6328
publishDate 2014-01-01
description 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 Melone3,51Neuroradiology 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, ItalyAbstract: 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
url http://www.dovepress.com/giant-thrombosed-intracavernous-carotid-artery-aneurysm-presenting-as--a15571
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