Isolated hypoglossal nerve palsy from internal carotid artery dissection related to PKD-1 gene mutation

Abstract

BackgroundInternal carotid artery dissection has been well recognized as a major cause of ischaemic stroke in young and middle-aged adults. However, internal carotid artery dissection induced hypoglossal nerve palsy has been seldom reported and may be difficult to diagnose in time for treatment; even angiography sometimes misses potential dissection, especially when obvious lumen geometry changing is absent.Case presentationWe report a 42-year-old man who presented with isolated hypoglossal nerve palsy. High-resolution MRI showed the aetiological dissected internal carotid artery. In addition, a potential genetic structural defect of the arterial wall was suggested due to an exon region mutation in the polycystic-kidney-disease type 1 gene.ConclusionsHypoglossal nerve palsy is a rare manifestations of carotid dissection. High-resolution MRI may provide useful information about the vascular wall to assist in the diagnosis of dissection. High-throughput sequencing might be useful to identify potential cerebrovascular-related gene mutation, especially in young individuals with an undetermined aetiology.

A typically progressive dissection of the internal carotid artery with recurrent hiccups: A case report with continuous 2‐year data recording

“…The main mechanism involves the formation of dissecting aneurysm that compresses the posterior cranial nerve, resulting in nerve paralysis. 6 , 18 , 19 , 20 , 21 , 22 In this case, the anatomy of the internal carotid artery resulted in an intermural hematoma, which caused stenosis of the vascular lumen and the shedding of the thrombi, which led to symptoms of ischemic stroke. The patient showed symptoms of posterior cranial nerve injury without the occurrence of aneurysm.…”

“…Among them, the XII injury of the cranial nerve is the most common, followed by IX, X, and XI. The main mechanism involves the formation of dissecting aneurysm that compresses the posterior cranial nerve, resulting in nerve paralysis 6,18‐22 . In this case, the anatomy of the internal carotid artery resulted in an intermural hematoma, which caused stenosis of the vascular lumen and the shedding of the thrombi, which led to symptoms of ischemic stroke.…”

MiR-4787-5p Regulates Vascular Smooth Muscle Cell Apoptosis by Targeting PKD1 and Inhibiting the PI3K/Akt/FKHR Pathway

“…19 At present, most of the literature of PC1 focuses on the pathogenesis of ADPKD, 20,21 but there are still a few studies on AD. 22 In PKD1 knockout mice, PKD1 downregulation resulted in a series of pathologic alterations in aortic walls of those mice such as latent laeouna and intramural hematoma, which are similar to human AD. 23 It was known that sustained reduction of intracellular Ca(2+) promoted the proliferation and apoptosis of VSMCs.…”

A Spontaneous Extracranial Internal Carotid Artery Dissection with Autosomal Dominant Polycystic Kidney Disease: A Case Report and Literature Review

“…Spontaneous extracranial ICA dissection associated with ADPKD is extremely rare, with only nine cases reported in the English literature to date, including our patient ( Table 1 ) [ 5 , 6 , 7 , 8 , 9 ]. We analyzed these cases, which included four women and five men with a mean age of 41.1 years.…”

“…The reviewed cases and our cases were examined together, demonstrating that the prognosis was favorable in six cases, except for one patient with cerebral infarction, out of the seven total cases in which the prognosis was described ( Table 1 ) [ 22 ]. Strunk et al [ 5 , 6 , 7 , 8 , 9 ] reported that recurrent cervical artery dissection was rare in ordinary spontaneous cervical ICA dissection. On the other hand, as in our case, it is possible to develop arterial dissection at other sites; thus, careful observation of the clinical course is necessary for spontaneous ICA dissection in ADPKD patients [ 23 ].…”