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

ABSTRACT: BACKGROUND:Internal 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 PRESENTATION:We 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. CONCLUSIONS:Hypoglossal 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.

SUBMITTER: Chen Z

PROVIDER: S-EPMC6839245 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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

Chen Zhaoyao Z Yuan Jun J Li Hui H Yuan Cuiping C Yin Kailin K Liang Sen S Li Pengfei P Wu Minghua M

BMC neurology 20191108 1

<h4>Background</h4>Internal 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.<h4>Case presentation</h4>We report a 42-year-old man who presented with isolate ...[more]

PMID: 31703639

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Project description:IntroductionThe most frequently encountered symptoms in internal carotid artery dissection (ICAD) are head or neck pain and cerebral ischemia. Ocular symptoms or signs have been reported as the presenting feature in up to 50% of patients, with (painful) Horner syndrome being the most frequently associated. Horner syndrome is part of the classic triad that depicts the characteristic presentation of ICAD and that consists of pain in the ipsilateral neck, head and orbital regions, (partial) Horner syndrome, and cerebral or retinal ischemia. All patients presenting with painful Horner syndrome should therefore require prompt investigations to rule out carotid artery dissection. In patients with confirmed diagnosis, treatment should be started early to prevent permanent ocular or cerebral complications.Case presentationCase 1: A 61-year-old woman presented with right temporal headache, an episode of transient visual loss and drooping of the right upper eyelid. Examination revealed anisocoria, which was more important in darkness. Reversal of anisocoria was observed after instilling drops of apraclonidine 0.5%. Neuroimaging demonstrated intrapetrous ICAD. Headaches, eyelid ptosis, and anisocoria all had resolved the next day. Apraclonidine pharmacologic testing a few weeks later was no longer dilating the previously smaller pupil. Case 2: A 48-year-old man presented with drooping of the right upper eyelid and right occipital headache and facial pain that all started one day after an intense yoga workout. Anisocoria was noticed upon examination, with topical cocaine 10% pharmacologic testing confirming a right Horner syndrome. Neuroimaging revealed ICAD. The patient reported resolution of his eyelid ptosis a few days later. Eyelid ptosis and anisocoria had indeed resolved at a follow-up examination a few weeks later. However, cocaine drop testing still produced anisocoria, compatible with subclinical Horner syndrome.ConclusionTransient or subclinical Horner syndrome can be the presenting feature in ICAD; in such cases, the characteristic eyelid ptosis and anisocoria may be short-lived and resolve in only a few days. If suspected by clinical history, pharmacologic testing may be helpful in identifying subclinical cases.

Dataset Information

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

Publications

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

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