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

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.

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

“…Patients with NF1 also exhibit symptoms of depression and anxiety, higher levels of perceived stress and lower levels of self-esteem compared with general population norms [ 360 , 361 , 362 ]. Less frequent in NF1 patients but, however, possible are vascular abnormalities such as the renal artery stenosis—with occlusion and stenosis of major intracranial vessels—or intracranial aneurysms [ 359 , 363 , 364 , 365 , 366 , 367 , 368 ].…”

Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients

“…Patients 3, 6 and 8 presented cerebrovascular abnormalities, which are a common occurrence in NF1 [ 23 ]. In particular, patient 3 presented very rare bilateral aneurysms of both internal carotid arteries, as extensively described in a previous report [ 18 ]. Patients 1, 2, 3 and 4 had a family history of NF1.…”

“…Eight patients were screened for NF1 mutations (see Table 1 ). Genetic testing revealed that six of them carried a mutation producing truncated neurofibromin, as confirmed by a new diagnostic technique recently described by our group [ 17 ]; Patient 9 presented a single-nucleotide mutation, while Patient 3 presented a newly discovered intragenic heterozygous deletion encompassing exon 12 and 13 [ 18 ].…”

A Case of the Internal Carotid Artery–Posterior Communicating Artery Aneurysm Mimicking Tolosa–Hunt Syndrome

“…Despite some sporadic case reports on giant or dissecting aneurysms mimicking Tolosa–Hunt syndrome, 20–22) our extensive literature search found only one case of a small ICA-PCoA aneurysm (5 mm × 7 mm) presenting with painful ophthalmoplegia in all directions. 7) The shape of the aneurysm in this report is quite similar to that in our case, namely, the aneurysm was extremely long with complicated bulges projecting infero-postero-laterally.…”