Alagille syndrome with cavernous carotid artery aneurysm

Moreau, S.; Bourdon, N.; Jokic, M.; Rugy, M. Goullet De; Babin, E.; Valdazo, A; Courthéoux, P.

doi:10.1016/s0165-5876(99)00223-2

Cited by 21 publications

(8 citation statements)

References 9 publications

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“…14 Underlying vessel abnormalities in the central nervous system that could explain the occurrence of bleeding and stroke in AGS have been described in some of these patients. 8,14 In our database, 2 cases had basilar artery aneurysms, 1 had an aneurysm of the left middle cerebral artery, and 2 had internal carotid artery anomalies accounting for the intracranial events. Another 5 patients had internal carotid artery anomalies that were detected on MR/MRA imaging.…”

Section: Discussionmentioning

confidence: 98%

“…Underlying central nervous system vascular abnormalities have been described in some AGS individuals, which could explain the intracranial events. 8,14 The aim of this study was to determine the prevalence of noncardiac vascular anomalies and events in a cohort of individuals with AGS. In addition, the impact of these findings on patient mortality was assessed.…”

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confidence: 99%

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Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality

Kamath¹,

Spinner²,

Emerick³

2004

ACC Current Journal Review

132

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Background-Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to characterize the nature and spectrum of vascular anomalies in AGS. Methods and Results-Retrospective chart review of 268 individuals with AGS was performed. Twenty-five patients (9%) had noncardiac vascular anomalies or events. Sixteen patients had documented structural vascular abnormalities. Two had basilar artery aneurysms, 7 had internal carotid artery anomalies, and another had a middle cerebral artery aneurysm. Moyamoya disease was described in 1 patient. Three of the 16 patients had aortic aneurysms, and 2 had aortic coarctations. One of the patients with a basilar artery aneurysm also had coarctation of the aorta. One of the individuals with an internal carotid artery anomaly also had renal artery stenosis. Nine more patients had intracranial events without documented vessel abnormalities. Vascular accidents accounted for 34% of the mortality in this cohort. Conclusions-The vascular anomalies described in our cohort of AGS individuals identify an underrecognized and potentially devastating complication of this disorder. It is a major cause of morbidity and mortality in this population, accounting for 34% of the mortality. We have also reviewed the body of evidence supporting a role for Jagged1 and the Notch signaling pathway in vascular development.

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Section: Discussionmentioning

confidence: 98%

mentioning

confidence: 99%

Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality

Kamath¹,

Spinner²,

Emerick³

2004

ACC Current Journal Review

132

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“…Furthermore, as this report was a retrospective chart review, not all 268 patients had complete imaging of their cerebral vasculature preventing the determination of an accurate incidence of intracranial aneurysms. Moreau et al [20] describe their experience with an un- ruptured cavernous carotid artery aneurysm in a patient with AGS that caused blindness. This aneurysm was successfully treated with coil embolization.…”

Section: Discussionmentioning

confidence: 99%

Alagille Syndrome and Aneurysmal Subarachnoid Hemorrhage

et al. 2005

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The authors report the case of a 21-year-old female with a known history of Alagille syndrome (AGS) who was found to have a basilar terminus aneurysm without evidence of rupture. Prior to intervention, the patient’s hospital course became complicated by multiple medical problems associated with AGS. Subsequently, the patient had an acute neurological decline. An unenhanced CT of the head demonstrated diffuse subarachnoid hemorrhage, intraparenchymal hematoma and intraventricular hemorrhage. AGS is an autosomal dominant arteriodysplastic syndrome with multiple organ system involvement caused by a mutation in the Jagged1 gene. Intracranial hemorrhage is one of the many complications observed in this patient population. While there are multiple case reports in the literature reviewing the spectrum of cerebrovascular events and abnormalities, intracranial aneurysmal rupture has only recently been described. To our knowledge, this is the third reported case of documented aneurysmal subarachnoid hemorrhage in a patient with AGS. The authors present a brief review of the vascular abnormalities both intracranial and systemic seen in AGS. The genomic abnormalities of this syndrome are also reviewed with particular attention to the Jagged1 gene and the Notch receptor signaling pathway which may reveal elements of the pathophysiology involved in aneurysm formation and rupture in AGS patients. In light of the increased incidence of intracranial hemorrhage in AGS and the possible link to aneurysmal subarachnoid hemorrhage, establishing the incidence of intracranial aneurysms in AGS and the role of screening these patients is indicated.

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“…There are only a few reported cases of cerebrovascular disease in patients with Alagille syndrome, including two reports of moyamoya disease, autopsy evidence of an intradural arteriovenous malformation, and a case of a cavernous carotid aneurysm. 6,12,17,21 Additionally, mutations in the Notch receptor (a ligand of the Jagged receptor) have been associated with adult-onset cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 7 Patients with this disorder have small, deep cerebral infarcts with nonatherosclerotic, nonamyloid angiopathy involving the media of small cerebral arteries; this implicates the Jagged-Notch signaling pathway in pathological cerebrovascular conditions.…”

Section: Discussionmentioning

confidence: 99%

Progression of a posterior communicating artery infundibulum into an aneurysm in a patient with Alagille syndrome

Cowan¹,

Barkhoudarian²,

Yang³

et al. 2004

Journal of Neurosurgery

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The authors present a case in which a posterior communicating artery (PCoA) infundibulum progressed into an aneurysm in a patient with Alagille syndrome (arteriohepatic dysplasia). The 3-mm PCoA infundibulum had been noted on angiography studies obtained 5 years earlier, prior to clip occlusion of a basilar tip aneurysm. Recently, the patient presented to the emergency department with the sudden onset of headache and decreased mental status. A computerized tomography scan of the head with three-dimensional angiography revealed no gross subarachnoid hemorrhage, but did demonstrate a 5-mm PCoA aneurysm. Lumbar puncture demonstrated xanthochromia and a large quantity of red blood cells. The patient underwent open surgery for aneurysm clip occlusion and obtained a good recovery. This case illustrates the small but growing number of examples of infundibulum progression. It also indicates the need for a close follow up in patients with congenital abnormalities that may pose an increased risk for what has traditionally been considered a benign lesion.

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Alagille syndrome with cavernous carotid artery aneurysm

Cited by 21 publications

References 9 publications

Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality

Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality

Alagille Syndrome and Aneurysmal Subarachnoid Hemorrhage

Progression of a posterior communicating artery infundibulum into an aneurysm in a patient with Alagille syndrome

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