Ruptured left external carotid artery aneurysm presenting as upper airway obstruction in von Recklinghausen's disease

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CASE REPORT – OPEN ACCESS

InternationalJournalofSurgeryCaseReports26(2016)170–172

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International Journal of Surgery Case Reports

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Ruptured left external carotid artery aneurysm presenting as upper airway obstruction in von Recklinghausen’s disease

Hajar Souldi

^∗

, Mohammed Yahya Bajja, Meriem Chenguir, RedaLah Abada, Samy Rouadi, Mohammed Roubal, Mohammed Mahtar

DepartmentofOto-Rhino-LaryngologyandHeadandNeckSurgery,Hôpital20Août1953,CentreHospitalierUniversitaireIbnRochd,Casablanca,Morocco

a r t i c l e i n f o

Articlehistory:

Received2April2016

Receivedinrevisedform6July2016 Accepted6July2016

Availableonline14July2016

Keywords:

Neuroﬁbromatosis vonRecklinghausen’sdisease Carotidaneurysm

Airwayobstruction

a b s t r a c t

INTRODUCTION:Neurofibromatosistype1(NF-1)isanautosomaldominantdisordercharacterizedby café-au-laitmacules,neurofibromas,andirishamartomas.Carotidarteryaneurysmsrarelyaffectpatients withNF-1butmaybeassociatedwithrupture.Wereportthefirstepisodeofarupturedexternalcarotid aneurysmwithseverelife-threateningairwayobstructioninaNF-1patient.

PRESENTATIONOFCASE:WereportacaseofNF-132-year-oldwomanadmittedtoourdepartmentforlife- threateningupperairwayobstructioncausedbyspontaneousexpandingswellingintheleftsidedneck.

Thediagnosisofrupturedaneurysmwassuspectedclinicallyandconﬁrmedbycomputedtomography oftheneck.Thepatientrequiredtracheotomyforbreathingdifﬁcultiesandhemostasiswasassured surgicallybyligationoftheexternalcarotidartery.

DISCUSSION:VascularabnormalitiesarerarebutrecognizedmanifestationoftypeNF-1.Theyoftenaffect mediumandlargesizedvessels.Carotidaneurysmsareasymptomaticinmostpatients;theyaresubject tosuddenrupturewithpotentiallydevastatingconsequences.CTangiographyisthegoldstandardfor diagnosisofananeurysmalruptureinNF-1patients.Treatmentconsistsonsurgicalligation,resection andreconstructionoronpercutaneousembolization.

CONCLUSION:PatientswithNF-Ihaveawidespectrumofvascularabnormalities.Particularly,aneurysms canbelife-threateningforthesepatients;theirsurgicalmanagementmustbeurgentinthesesituations.

1. Introduction

Neuroﬁbromatosistype 1(NF-1),orvonRecklinghausendis- ease, is a rare autosomal dominant neurocutaneous genetic disorder characterized by a generalized dysplasia of mesoder- malandneuroectodermaltissues[1,2].CardinalfeaturesofNF-1 includemultiplecaféaulaitmacules,benignneuroﬁbromas,and irishamartomas[3].Vascularabnormalitiesaffectmedium-and large-sizedvesselsandarerecognizedmanifestationsofNF-I[1].

Stenoticlesionspredominate,whileaneurysmsarelesscommon [4,5].Therenalarteryisthemostfrequentsiteofinvolvement[1,3].

Carotidarteryaneurysmsarerarebutoftenpresent withspon- taneousruptureorneurologicalcomplications[1].Pathogenesis, clinicalspectrum,andnaturalhistoryoftheseabnormalitiesare unknown.

Here,wereportanunusualcaseofvonRecklinghausendisease revealedbya rupturedexternal carotidaneurysmcausing neck

∗ Corresponding authorat: DepartmentofOto-Rhino-LaryngologyandHead andNeckSurgery,Hôpital20Août1953,6RueLahssenELAARJOUN,Casablanca, Morocco.

E-mailaddresses:hajarsouldi@gmail.com,ifoec.casa@gmail.com(H.Souldi).

swellingandlife-threateningupperairwayobstruction.Inaddition, areviewoftheliteratureissummarized.

2. Presentationofcase

A32-year-oldNorth-Africanwoman−withoutabackground historyofNF-1-presentedtotheemergencydepartmentofour institutionwithsuddenandsevereleftneckpainassociatedwith aprogressivelyspontaneousandpainfulexpandingswellinginthe leftsidedneck.Shehaddifficultyintalkingandswallowing.Her familyhistory wasnegativefor aneurysmaldisease,neurofibro- matosis, or othergeneticabnormality. Therewas nohistory of surgeryormedicaldisease.Nodefinitetraumacouldberecalled despiterepeatedquestioning.

Physicalexaminationshowedalargeandtendermassoftheleft sideofherneckfromtheclavicleuptothejawcausingsigniﬁcant airwaycompressionandwhichdidnotdisplayrednessorpulsation (Fig.1).Therewascafé-au-laitspottypigmentationoftheskinthat istypicalinpatientswithvonRecklinghausen’sdisease(Fig.2);no benignneuroﬁbromaswereobserved.

While she was tachycardic at 130/min, her blood pressure was120/75and heroxygensaturationwas98%onroomair.A hemoglobin value of 5.2g/dl suggested the cause of the acute

http://dx.doi.org/10.1016/j.ijscr.2016.07.009

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Fig.1. Largemassoftheleftsideofneckofthepatientfromtheclavicleuptothe jaw.

Fig.2. Café-au-laitspottypigmentationofthepatient’sskin.

swellingtobemassivebleeding.Computedtomography(CT)scan revealedalargehemorrhageintheleftsideoftheneckwithactive extravasationfromtheexternalcarotidartery(Fig.3).Bloodtrans- fusionandinotropicsupportwithnoradrenalinewerecommenced.

Angiographywasnotperformedbecausenotavailableinourinsti- tution.

Thepatientpresented suddenly asevere breathing difficulty andwasimmediatelytakentotheoperatingroom.Afterfivefailed orotrachealintubationattempts,anemergencytracheotomywas performed. Surgical neck exploration under general anesthesia showedalargecervicalhematoma.Thebleedingfromtheexter- nalcarotid arterywasidentifiedandappearedtobearuptured pseudo-aneurysm.Weproceededtohemostaticmeasures,culmi- natinginligationoftheexternalcarotid10mmuptothesuperior thyroidartery.Thepatienthadnocomplications.Tracheotomywas removedatday3.Follow-upat12monthsrevealednoothervas- cularcomplications.

Fig.3. CTscanoftheneckdemonstratingalargehemorrhageintheleftsideofthe neckwithcompressionontheairways.

3. Discussion

Vascular abnormalities are well-recognized but rare mani- festations of NF-I and comprise of stenoses, aneurysms, pseu- doaneurysms,and ruptureor fistulasformation, occlusionsand arteriovenous malformations,mainlyof thelargerbloodvessels [2].ThetermNF-1vasculopathyhasbeencoinedinthemedical literature todescribe thesevascular abnormalities [1]. The fre- quencyof this vasculopathy is hard todefine.It is reported to occurin0.41%–6.4%ofthepatients[3]andtoinvolvemainlylarger bloodvessels.Linetal.[6]founda2%prevalenceofcardiovascular abnormalitiesamong2322participantsintheNationalNeurofibro- matosisFoundationdatabase.

Most patients with NF-I vascular abnormalities are asymp- tomaticandhaveinvolvementofmultiplevessels[7].Themost commonclinicalpresentationisrenovascularhypertensionassoci- atedwithrenal arterystenosisinthechildhood[1,3].Therenal artery is the most frequently involved, but abdominal aortic coarctation,internalcarotidarteryaneurysms,andcervicalverte- bralarteriovenousmalformationshavealsobeendescribed[1,4].

Spontaneousrupturesfromsubclavian,intercostalarteries,thyro- cervical,costo-cervicaltrunk,andperipheralarterieshave been documented[2,4,5,8–10].Tothebestofourknowledge,thisisthe ﬁrstreportofarupturefromtheexternalcarotidarterytobeasso- ciatedwithneuroﬁbromatosis.CTangiographyisconsideredthe goldstandardinthediagnosisofrupturedaneurysms[8].

Therearetwomajordistinctpathologicmechanismsexplain- ingarteriallesionsassociatedwithvonRecklinghausen’sdisease.

Thevascularanomalymaybetheresultofcompressionorinfil- trationofadjacentbloodvesselsbyaneurofibroma,spindlecell proliferation,andproliferationofnerveswithinbloodvesselwalls [1,2].Moreover,neurofibrominexpressionhasbeendemonstrated inthevascularendothelialandsmoothmusclecells.Thissuggests thatdeficiencyinneurofibromininNF-Imaycausealterationin thenormalprocessofvascularmaintenanceandrepairregulated byneurofibrominasproposedbyRiccardi[11].

Survival is shorter in patientswithNF-I compared with the generalpopulation.Themostcommoncauseofdeathinpatients withNF-1ismalignancyoftenfromconnectiveandsoft-tissueneo- plasms;however,inpatientsyoungerthan40,vasculardiseaseand hypertensionarethesecondleadingcausesofdeath[3].Carotid aneurysmsinpatientswithNF-1areoftenassociatedwithsponta- neousruptureandbleeding,withpregnancyreportedasastrong predisposingfactorasreportedbyBertrametal.[12]andSobata etal.[13].

The principles of treatment involve airway rescue and haemostasis, including surgical intervention and non-operative management. Treatment depends onthe patient’s ageand the

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typeandlocationofthelesion.Treatmentofcarotidaneurysmsin patientswithNF-1moreoftenrequiressurgicalexcisionandrecon- struction.Anendovascularapproachispossibleusingstentgrafts orexclusionoftheaneurysmwithcoilsorglue;itispreferablein higherriskpatientsandinthosewithextensionoftheaneurysm tothedistalcervicalcarotidartery,whereoperativeexposureis judgedtobedifﬁcult[1,7].Insomeinstancesacombinationofopen surgicalandendovascularmethodsareindicated[4].Thechoiceof conduitissomewhatcontroversialbecauseofthepotentialriskof aneurysmaldegenerationwithveingraftsinyoungerpatientsand theriskofcomplicationswithanendovascularapproach.Bertram etal.[12]concludedthat,althoughthismodeofrepairisfeasible butchallengingbecauseoftheriskofcomplications,itisabetter optionthanopenrepairincaseswithdifﬁcultdistalexposureof theinvolvedvessels.Also,Hamasakietal.[14]andOderichetal.

[3]juggedthattheendovascularstentingandcoilembolizationfor carotidarteryaneurysmassociatedwithNF-1wereconsideredsafe andeffective.

4. Conclusion

Carotidarteryaneurysmsareevenararerformofpresentation foraNF-1vasculopathy.Theexactpathogenesisandnaturalhis- toryremainstobedetermined.Becausetheselesionsaresubjectto suddenrupturewithpotentiallydevastatingconsequencesaslife- threateningupperairwayobstruction,aneurysmsrequireahigh indexofsuspicioninvonRecklinghausen’sdiseasepatients.

Conﬂictsofinterest None.

Funding None.

Ethicalapproval

Patientapprovalis:ok.

Consent

Patientconsent:ok.

Authorcontribution

HajarSouldi:writingthepaper.

MohammedYahyaBajja:writingthepaper.

MeriemChenguir:writingthepaper.

RedaLahAbada:studyconcept.

SamyRouadi:studyconcept.

MohammedRoubal:correctionofthepaper.

MohammedMahtar:correctionofthepaper.

Guarantor HajarSouldi.

Acknowledgements None.

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