Orofacial Manifestations of Encephalotrigeminal Angiomatosis: A Case Report and Review of Literature

Transcription

1 CASE REPORT Orofcil Mnifesttions of Encephlotrigeminl Angiomtosis: A Cse Report nd Review of Literture V. Bhvn, B. Blji Bu, J. Shilp Ro, M. Mounik Reddy Deprtment of Orl Medicine nd Rdiology, Kmineni Institute of Dentl Sciences Nrketplly, Nlgond, Telngn, Indi Emil for correspondence: hvn2966@gmil.com ABSTRACT Sturge Weer syndrome (SWS), lso clled s encephlotrigeminl ngiomtosis, is spordiclly occurring neurocutneous syndrome cused y persistence of trnsitory primordil rteriovenous connection of the fetl intrcrnil vsculture. It is chrcterized y vsculr mlformtion with cpillry venous ngioms tht involve fce, choroid of eye, nd leptomeninges with resulting neurologicl nd oritl mnifesttions. The dignosis is usully considered in child presenting with seizures nd fcil cpillry mlformtion long the trigeminl nerve distriution. In this rticle, cse of SWS ssocited with orl mnifesttions nd review on literture is presented. Key words: Port-wine stin, sturge weer syndrome, trm-trck clcifictions AQ2 INTRODUCTION Sturge-Weer syndrome (SWS), or encephlotrigeminl ngiomtosis, is rre, congenitl neurocutneous syndrome chrcterized y unilterl fcil cutneous vsculr mlformtion (nevus flmmeus or port-wine stin [PWS]) in ssocition with ipsilterl leptomeningel ngiomtosis. [1] It ws first descried y Sturge in 1879 in 6-yer-old girl with fcil nevus, nd lter, cererl involvement ws demonstrted y Klischer in 1897 [2] It is often ssocited with seizures nd other neurologic complictions, including mentl retrdtion, contrlterl hemipresis, nd glucom. [3] Prevlence of the disese mong the neurocutneous syndromes, especilly with vsculr predominnce, is 1/50,000 live irths nd no rcil is. [4] Both the genders re ffected eqully. Introrlly, ngiomtosis cn involve lips cusing mcrocheili, resulting Quick Response Code Article Info: doi: / Received: Revised: Accepted: Aville Online: , 2018 (www. ncd.in) NAD, All rights reserved in hemihypertrophy of the uccl mucos, plte, nd the floor of the mouth. Vsculr hyperplsi is most commonly seen involving gingivl. [4] Filure of its regression results in residul vsculr tissue which forms ngioms of leptomeninges, fce nd ipsilterl eye. These lood vessels show norml lood flow pttern s vsomotor phenomenon, venous occlusion, thromosis nd vsculr stel phenomenon resulting in ischemi, gliosis, trophy nd clcifiction of underlying corticl tissue. Although the leptomeningel ngiom in SWS is typiclly sttic lesion, it hs een demonstrted y some to e of progressive nture. [5] CASE REPORT A 23-yer-old mle ptient ws referred to the Deprtment of Orl Medicine nd Rdiology with chief complint of swollen gums. On medicl history, he hd no history of seizures. The ptient ws oserved to hve norml intelligence, moderte uild, nd norml temperture, pulse, respirtion, nd lood pressure. On extrorl exmintion, hemihypertrophy ws oserved on the right side of the fce extending from hirline till lower order of mndile long the division of the trigeminl nerve with PWS which ws present since irth [Figure 1]. Mouth nd nsl septum were devited towrd the right side of the fce.

2 Glucom ws seen involving the eye [Figure 2]. Introrl exmintion reveled soft, non tender vsculr hyperplsi involving gingiv in right upper qudrnt of the orl cvity, nd solitry well-defined ulcer of size cm is seen on swelling in gingiv due to trum which is tender on plption [Figure 3]. Red pigmenttion ws oserved over the upper nd lower lil mucos [Figure 4], uccl mucos, plte, nd ventrl surfce of the tongue on the right side [Figure 5]. Hypertrophy of the upper nd lower lip is present [Figure 6]. On discopy test, lnching ws seen in the upper nd lower lip nd mxillry gingivl on the right side [Figure 7]. Differentil dignosis of Klippel Trenuny Weer syndrome in which PWSs re seen in extremities nd fce, hemihypertrophy of soft nd ony tissues, nd Beckwith Wiedemnn syndrome long with fcil PWS, mcroglossi, omphlocele, nd viscerl hyperplsi, other lesion syndrome, nd cots disese were considered. Investigtions tht were crried out in the present cse included n orthopntomogrph (OPG), lterl skull view, nd complete hemogrm. The OPG reveled hemifcil hypertrophy in the right side of fce [Figure 8]. The complete hemogrm showed norml hemogloin levels with no other normlity in the totl or differentil white lood cell counts. Bleeding nd clotting time were within norml limits. Lterl skull view showed no normlities such s clcifiction, trophy with dilttion of ventricle, nd enlrgement of sinuses. The presence of glucom ws confirmed y ophthlmologist. Bsed on the clinicl findings nd rdiologicl findings, dignosis of SWS ws given. Figure 1: Clinicl picture showing port-wine stin on the right side of fce Figure 3: Introrl exmintion showing vsculr hyperplsi involving gingiv in right upper qudrnt Figure 2: Clinicl picture showing glucom involving the right eye Figure 4: ( nd ) Introrl exmintion showing red pigmenttion in the upper nd lower lil mucos

3 Figure 5: (-c) Introrl exmintion showing red pigmenttion in the uccl mucos, hrd plte, nd ventrl surfce of tongue on the right side DISCUSSION Figure 6: Hypertrophy of the upper nd lower lip Figure 7: (-c) Positive discopy test Figure 8: Orthopntomogrm showing hemifcil hypertrophy is seen on right side SWS is typicl neurocutneous syndrome which is uncommon, non fmilil, congenitl condition of unknown etiology. It is often ssocited with cpillry or cvernous hemngioms ffecting c c primrily ut not limited to cutneous distriutions of the trigeminl nerve nd rrely venous mlformtions involving leptomeninges tht led to progressive destruction of the djunct cererl cortex. [6] Most commonly involves one or more unit of trigeminl nerve unilterlly. [7] It is elieved tht SWS results from developmentl defect in the 1 st month of gesttion, represented y the persistence of vsculr plexus which develops in the 6 th week of intruterine life, ut normlly undergoes regression during the 9 th week round the cephlic portion of the neurl tue. The ssocition etween cererl ngiomtosis nd fcil nevus, chrcteristic of the syndrome, is ttriuted to the development of the skin of the fce from the ectoderm tht covers this vsculr plexus. [3] When oth crnil nervous system nd fcil ngioms re present, SWS is referred to s complete nd incomplete when only one re is ffected without the other. It is clssified into three types sed on roch scle: Type I - oth fcil nd Ls - my hve glucom, Type II - fcil ngiom lone (no centrl nervous system [CNS] involvement) - my hve glucom, nd Type III - isolted LAs - usully no glucom. [8] In the present cse, there ws oculr involvement with glucom, nd fcil ngiom ws unilterl present since irth with vsculr hyperplsi involving gingivl in the ffected qudrnt (right mxillry) without ny CNS mnifesttions leds to dignosis of SWS Type II ccording to Roch clssifiction. According to Inn, the port-wine nevus is loclized on the fce, especilly over the right side, nd is detected in 87 90% of the cses. The lesion extension over the middle line is oserved in 50% of the ptients nd ilterl involvement cn e detected in out 33% of the cses. [9] The ipsilterl leptomeningel ngiomtosis lso represents one of the min signs of the syndrome, my present with progressive nture, nd commonly leds to cererl clcifictions, epileptic convulsive crises, contrlterl hypertrophy, hemipresis (30%), nd mentl retrdtion (50%). [4] Fcil lesions re the other chrcteristic feture of this syndrome nd include rosy purple nevus flmmeus lesions tht re shrply demrcted nd usully flt; these occur on the ipsilterl side of the fce in 90% of the ptients, which my

4 extend onto the neck, chest, nd ck. The fcil fetures lso my include hemihypertrophy of the involved side of the fce. Oculr involvement my present in the form of choroidl ngiom, glucom, heminopsi, or uphthlmos (enlrgement of the coting of the eye). Orl mnifesttions re present in pproximtely 38% of the cses, nd they my involve hemngiomtous lesion in the lip, orl mucos, gum, tongue, nd pltine region. [10] Neuroimging studies include skull rdiogrph, ngiogrphy, CT scn, mgnetic resonnce imging (MRI), MRI with gdolinium, nd functionl imging with single-photon emission computed tomogrphy (SPECT) or positron-emission tomogrphy (PET). CT scn nd skull rdiogrph my show the chrcteristic gyriform intrcrnil trmline, or trm-trck or trolley-trck, clcifictions locted in the cortex underlying the leptomeningel vsculr mlformtions, cererl trophy, nd enlrgement of the medullry nd suependyml veins nd the choroid plexus. [11] Clcifictions pper s res of decresed signl intensity on spin density nd T2-weighted MR imges. [12] Cererospinl fluid shows elevted levels of proteins. Angiogrphy shows lck of superficil corticl veins, non-filling durl sinuses, nd norml torturous vessels. SPECT shows erly hyperperfusion nd lte hypoperfusion. PET shows hypometolism. Reduced ckground ctivity, polymorphic delt ctivity, nd epileptiform fetures re seen in electroencephlogrm. [13] The primry im of phrmcologic tretment is to minimize or optimlly eliminte seizure ctivity. Anticonvulsnts re most commonly used such s oxcrzepine, levetircetm, nd topirmte. If seizures persist surgicl procedures such s functionl hemispherectomy, ntomic hemispherectomy, nd hemispherectomy cn e done. Opthlmologic symptom most commonly seen is glucom nd cn e effectively treted y topicl mediction ltnoprost. Common surgicl therpies include treculectomy, treculotomy, nd goniotomy in infnts nd children, s well s vlve dringe implnts, non-penetrting sclerectomy, procedures in dults. [14] Skin mnifesttions such s port-wine irthmrk cn e treted y lsers. Flshlmppumped PDL is the current method for lightening port-wine irthmrks, which trgets the port-wine vsculture without ffecting the surrounding epidermis or dermis. [15] The dentl rehilittion in cognitive/ psychologicl function impirment ptients is complex process, requiring conservtive mngement, nd my demnd the use of ehvior mngement techniques due to mentl retrdtion specilized eduction services, ehviorl psychology intervention, nd stimulnt use in ptients with cognitive deficits nd ttention prolems hve shown to e enefited. [16] Conscious sedtion cn e used when required. Whenever orl surgery is plnned in SWS ptients, prticulr cre must e pid to chieve hemostsis during nd fter the surgicl procedure y splints, injection of nesthetic solutions with vsoconstrictors. In spite of strict orl hygiene mesures, ngiomtous gingivl enlrgement poses thret to gingivl helth nd my t some point require gingivectomy. Nd: YAG nd CO 2 lsers cn e used for gingivectomies in SWS ptients with good sfety. [3] REFERENCES 1. Godge P, Shrm S, Ydv M, Ptil P, Kulkrni S. Sturge weer syndrome: A cse report. Rev Odonto Cienc 2011;26: Sroj G. Sturge weer syndrome with secondry glucom. J Clin Opthlmol Optom 2017;2(1): Shrm N, Pssi S, Meht A. Sturge-weer syndrome: Report of cse nd literture review. J Peditr Dent 2014;2: Neto FX, Junior MA, Ximenes LS, Jco CCS, Junior AG, Plhet CP, et l. Clinicl fetures of sturge-weer syndrome. Arq Int Otorrinolringol 2008;12: Wh A. Sturge weer syndrome: A review. Bomy Hosp J 2008;50: Sturge WA. A cse of prtil epilepsy, pprently due to lesion of one of the Vso motor centres of the rin. Trns Clin Soc Lond 1879;12: Bhnsli RS, Yeltiwr RK, Agrwl AA. Periodontl mngement of gingivl enlrgement ssocited with sturgeweer syndrome. J Periodontol 2008;79: Roch ES. Neurocutneous syndromes. Peditr Clin North Am 1992;39: Inn CJ. Sturge-weer syndrome: Report of n unusul cutneous distriution. Brin Dev 1999;21: Elvrsu S, Kumrn ST, Kumr PK. Periodontl mngement of gingivl enlrgement ssocited with sturge weer syndrome. J Ind Soc Periodontol 2013;17: Akpinr E. The trm-trck sign: Corticl clcifictions. Rdiology 2004;231: Wilms G, Vn Wijck E, Demerel P. Gyriform clcifictions in tuerous sclerosis simulting the ppernce of sturgeweer disese. Am J Neurordiol 1992;13:295-7.

5 13. Kur M. Orofcil mnifesttion of sturge weer syndrome: A cse report with review. J Orofcil Sci 2012;4: Bchur CD, Comi AM. Sturge-weer syndrome. Curr Tret Options Neurol 2013;15: Grzon MC, Hung JT, Enjolrs O, Frieden IJ. Vsculr mlformtions: Prt I. J Am Acd Dermtol 2007;56: Lnce EI, Lnier KE, Zel TA, Comi AC. Stimulnt use in Ptients with Sturge-Weer Syndrome: Sfety nd Efficcy. Astrct Presented t Child Neurology Society; Author Queries??? AQ2:Kindly check uthor nme doesn t mtch with reference list