CADASIL in a patient with bilateral internal carotid artery agenesis

MacDonald, Allycia; Alvaro, Anthony

doi:10.1016/j.jocn.2020.11.009

Cited by 3 publications

(4 citation statements)

References 9 publications

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“…Additionally, some symptoms, such as trigeminal neuralgia, oculomotor paralysis, visual field defect, or vision loss, are caused by dilated artery (basilar artery and ACoA) or the aneurysm formed there [ 9 – 12 ]. Other rare syndromes, e.g., Hemangiomas, Posterior fossa brain malformations, CADASIL, Arterial lesions, Goldenhar syndrome, Cardiac abnormalities/aortic coarctation and Eye (PHACE) abnormalities, Klippel–Feil syndrome, coarctation of aorta, hypopituitarism, and growth hormone deficiency, have also been reported concurrent with ICA hypoplasia with no clear reasons [ 13 – 19 ].…”

Section: Discussionmentioning

confidence: 99%

Monocular central retinal artery occlusion caused by bilateral internal carotid artery hypoplasia complicated with patent foramen ovale: a case report and review of literature

Zhu

2021

Eur J Med Res

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Background Central retinal artery occlusion (CRAO) is an emergent ophthalmic disease which is commonly caused by atherosclerosis, thromboembolism, and arteriospasm. Here, we report a case of CRAO which is caused by extreme rare bilateral internal carotid artery (ICA) hypoplasia complicated with patent foramen ovale (PFO). The cardiogenic emboli blocked central retinal artery through unclosed foramen ovale and specific blood flow pathway. Case presentation This report describes a case of a 46-year-old woman sudden onset with amaurosis fugax for about 20 min and persistent visual impairment of left eye. Fundus fluorescein angiography shows the arm-retinal circulation time of left eye is 25 s, indicating that the occlusion occurs in the pathway from aortic arch to ophthalmic artery. The MRA and CTA examinations reveal the bilateral ICA hypoplasia and variation of Wills circle. Furthermore, transesophageal echocardiography (TEE) confirms the PFO and cardiogenic embolic event. Conclusions This work presents a CRAO case caused by rare congenital hypoplasia of ICA complicated with PFO, reminding us every single cause of vascular disease should be investigated carefully and the TOAST typing of cerebrovascular disease can be of great reference to the ocular vascular disease.

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Section: Discussionmentioning

confidence: 99%

Monocular central retinal artery occlusion caused by bilateral internal carotid artery hypoplasia complicated with patent foramen ovale: a case report and review of literature

Zhu

2021

Eur J Med Res

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“…To date, there have been some reports of CADASIL with cerebellar ataxia 2–4 . The reported patients are summarized in Table 1, along with our patient.…”

Section: Discussionmentioning

confidence: 91%

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine with aura, recurrent ischemic strokes, cognitive impairment, and psychiatric disturbance 1 . Cerebellar ataxia has been documented as a rare neurologic manifestation in CADASIL 2–4 . A case of CADASIL with p.Arg182Cys mutation that presented with progressive cerebellar ataxia is presented.…”

Section: Introductionmentioning

confidence: 99%

Possible association of crossed cerebellar diaschisis with cerebellar ataxia in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Kataoka

Nakamura

Kunieda

et al. 2023

Neurology & Clinical Neurosc

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine with aura, recurrent ischemic strokes, cognitive impairment, and psychiatric disturbance. 1 Cerebellar ataxia has been documented as a rare neurologic manifestation in CADASIL. 2-4 A case of CADASIL with p.Arg182Cys mutation that presented with progressive cerebellar ataxia is presented. | C A S E REP ORTA 50-year-old man presented with a 3-year history of progressive gait disturbance, cognitive decline, and subtle behavioral changes including apathy and social withdrawal. He had no history of migraine, stroke, or seizure, but he had a family history of stroke.Neurological examination revealed limb ataxia with laterality (more pronounced right side), hyperreflexia in all four limbs with increased muscle tone, and wide-based ataxic gait. MMSE and FAB score were 14/30 and 4/18, respectively. MRI showed bilateral white matter hyperintensities (WMHs), multiple lacunar lesions, a few cerebral microbleeds, and cerebellar atrophy (Figure 1A-H). SPECT showed diffuse hypoperfusion in the cortex, as well as in the white matter (Figure 1I). In addition, left-predominant basal ganglia hypoperfusion and right-predominant cerebellar hypoperfusion were also observed (Figure 1I). Sequence analysis of the NOTCH3 gene identified a heterozygous missense mutation c.544C>T (p.Arg182Cys). | DISCUSS IONRecent genomic studies have shown that there are many more CADASIL patients than we expected. 5 Recently, Mukai et al. reported the relationships between gene mutation types and clinical symptoms in Japanese CADASIL patients. 6 p.Arg182Cys, one of the most common mutations, showed various initial symptoms, a low frequency of stroke or TIA, and a high frequency of WMHs in the

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“…ICA agenesis has been observed conjointly with rare genetic disorders, but these reports have been anecdotal, with no hypotheses proposed to explain the association. [2][3][4] We describe a case of bilateral agenesis of the ICA system in a class III obese African American adult who had no known genetic disorders.…”

Section: Introductionmentioning

confidence: 99%

Bilateral Internal Carotid Artery Agenesis in a Patient With a Family History of Intracranial Pathology

Liau¹,

Jabbour²,

Yerdon³

et al. 2022

TOJ

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Background: Agenesis of the internal carotid artery (ICA) is a rare congenital malformation that is often asymptomatic until the fourth or fifth decade. ICA agenesis is associated with several intracranial pathologies, the most reported being intracranial aneurysms, thought to be attributable to the increased flow in the collateral vessels supplying the anterior circulation. The cause of ICA agenesis is largely unknown and has not been consistently associated with any genetic mutations or syndromes. Case Report: We present the case of a 37-year-old female who was incidentally found to have bilateral agenesis of the ICA system. Patient history revealed that the patient's father and 12 of his 14 siblings died from either ruptured brain aneurysms or cerebrovascular accidents before the age of 50 years. Presenting symptoms included right eye pain radiating to her right posterior neck, a 2-month history of diplopia, and associated nausea and vomiting. Differential diagnoses included immunoglobulin G4-related disease, sarcoidosis, lymphoma, and vasculitis. Absent internal carotids were attributed to congenital agenesis vs hypoplasia. The patient was seen by neurology and initiated on prednisone 80 mg by mouth once daily with a 2-week taper to treat systemic inflammation. The patient was deemed stable for discharge after a 2-day hospital admission and was scheduled for follow-up appointments with genetics, neurology, rheumatology, and ophthalmology. Conclusion: Bilateral ICA agenesis is a rare occurrence, with only 33 cases documented in a case report and literature review published in 2016. Because of the otherwise normal anatomy of the patient and the pervasive intracranial pathology seen in late adulthood in her family, we propose the likelihood of an inheritable form of bilateral ICA agenesis vs vascular disease or familial aneurysms.

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CADASIL in a patient with bilateral internal carotid artery agenesis

Cited by 3 publications

References 9 publications

Monocular central retinal artery occlusion caused by bilateral internal carotid artery hypoplasia complicated with patent foramen ovale: a case report and review of literature

Monocular central retinal artery occlusion caused by bilateral internal carotid artery hypoplasia complicated with patent foramen ovale: a case report and review of literature

Possible association of crossed cerebellar diaschisis with cerebellar ataxia in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Bilateral Internal Carotid Artery Agenesis in a Patient With a Family History of Intracranial Pathology

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