Korean Association for Disability and Oral Health 6(2) 2010 증 례 Axenfeld-Rieger 증후군과연관된치과적이상 김기림 이두영 김승혜 이상휘 * 최병재 이제호 연세대학교치과대학소아치과학교실, * 구강악안면외과학교실

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1 증 례 Axenfeld-Rieger 증후군과연관된치과적이상 김기림 이두영 김승혜 이상휘 * 최병재 이제호 연세대학교치과대학소아치과학교실, * 구강악안면외과학교실 Abstract Dental anomalies associated with Axenfeld-Rieger syndrome Ki-Rim Kim, Doo-Young Lee, Seung-Hye Kim, Sang-Hui Lee*, Byung-Jai Choi, Jae-Ho Lee Department of Pediatric Dentistry, Department of Pediatric Dentistry and Oral Science Reserach Center, *Department of Oral and Maxillofacial surgery, College of Dentistry, Yonsei University Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. The incidence of Axenfeld-Rieger syndrome has been estimated to be 1 per 200,000. The syndrome is characterized by short body stature, delayed bone age, and deficient or arrested development of neural crest cells involving the anterior chamber of the eyes, facial bones, teeth, periumbilical skin, and cardiovascular system. This is a case of a 6 year-old girl, who came to the department of the pediatric dentistry, Yonsei University Dental Hospital, for evaluation and treatment of multiple congenital missing permanent teeth. The patient presented typical dental, craniofacial, and systemic features of Axenfeld-Rieger syndrome, such as glaucoma, oval pupil, heterochromatic iris, umbilical hernia, and delayed bone age. On the panoramic view, 3 primary teeth were missing and 13 permanent tooth germs were absent. On the lateral cephalograph, underdevelopment of the maxilla and normal growth pattern of the mandible were confirmed. Periodic dental follow-up is planned for evaluation and interceptive treatment of her dental and craniofacial problems. Denture or removable space maintainer with a pontic is considered for esthetic and functional restoration. In addition, orthognathic surgery is also planned in future to prevent further midfacial skeletal deformation. Early diagnosis of Axenfeld-Rieger syndrome is very important to prevent exacerbation of complications, such as glaucoma and skeletal deformities. Key words : Axenfeld-Rieger syndrome, Dental anomalies, Glaucoma, Congenital missing teeth Ⅰ. 서론 교신저자 : 이제호 서울특별시서대문구신촌동 134 연세대학교치과대학소아치과학교실 Tel: Fax: leejh@yuhs.ac Axenfeld-Rieger 증후군은발생빈도가약 200,000분의 1인희귀한상염색체우성유전성질환으로, 눈의전안방 (Anterior chamber of the eye) 의기형과치아결손이특징적이다. 일반적으로후내피성중배엽 (Postendothelial 원고접수일 : / 원고최종수정일 : / 원고채택일 :

대한장애인치과학회지 6(2) 2010 mesoderm) 의발달과정의이상에기인한것으로알려져있으며인종과성별에따른경향성은아직관찰되지않았다 1-2). 단순히눈에만이상이있는경우 Rieger anomaly라고하며, 이에더하여치과적이상, 두개안면이상등을동반할경우 Rieger syndrome이라진단한다 1). 안과적이상은주로안구전방부, 양측성으로나타난다.

이외에도각막결손 (corneal defect), 동공이상 (papillary anomaly), 백내장 (cataracts), 현저한굴절이상 (ametropia) 등이나타날수있다.

glaucoma) 등과감별진단하는데중요한단서가된다 4). 안모는전반적으로실제나이에비해늙어보이고, 콧등이넓고편평하며중안모가짧고안각격리증 (Telecanthus) 도나타날수있다 2).

2 대한장애인치과학회지 6(2) 2010 mesoderm) 의발달과정의이상에기인한것으로알려져있으며인종과성별에따른경향성은아직관찰되지않았다 1-2). 단순히눈에만이상이있는경우 Rieger anomaly라고하며, 이에더하여치과적이상, 두개안면이상등을동반할경우 Rieger syndrome이라진단한다 1). 안과적이상은주로안구전방부, 양측성으로나타난다. 주된증상으로는동공의저형성증, 홍채각막유착증 (iridocorneal adhesion), 홍채선조형성부전증, Schwalbe s corpuscle의전방변위등이있다 1). 홍채의유착으로인한안방수 (aqueous humor) 의배출이상은안압 (intraocular pressure) 의증가를일으켜녹내장을유발할수있으며이것이시력상실의원인이될수있다. 이외에도각막결손 (corneal defect), 동공이상 (papillary anomaly), 백내장 (cataracts), 현저한굴절이상 (ametropia) 등이나타날수있다. 치과적인증상은상악전치부위에호발하는부분적무치증과왜소치, 정형치 (peg-shaped tooth), 우상치 (taurodontia), 맹출지연, 상악골열성장및가성하악전돌증, 짧은치근등이있으며 3) Rieger 증후군과다른전안방형성이상질환들 (Peter s anomaly, goniodysgenesis associated with juvenile glaucoma) 등과감별진단하는데중요한단서가된다 4). 안모는전반적으로실제나이에비해늙어보이고, 콧등이넓고편평하며중안모가짧고안각격리증 (Telecanthus) 도나타날수있다 2). 이외에전신적인증상으로심장형성이상 (Cardiac malformation) 5,6), 합지증 (Syndactylism) 7), 제탈장 (Umbilical hernia) 8), 귀의이상, 정신지체 8,9), 뇌성마비, 구개열 10), 제대피부이상 (Umbilical skin abnormality) 11) 등이보고되고있으나흔치않은것으로알려져있다. 저자는연세대학교치과대학병원소아치과에내원한 Axenfeld-Rieger 증후군을가진 6세환아의구강및두개안면임상적, 방사선학적인소견을관찰하고이에해당하는문헌을고찰한바를보고하는바이다. Ⅱ. 증례보고 Axenfeld-Rieger 증후군으로진단받은 5세 8개월여환이상악전치부치배가없고하악이앞으로돌출된경향이있다는주소로개인치과의원에서연세대학교소아치과에의뢰되었다. 환아는눈교정수술을받았으며, Axenfeld- Rieger 증후군 (Jacob type) 으로진단받았다. 현재녹내장의가능성이있어정기적인검진을받고있는중이다. 별다른치과적병력은없으며, 가족력으로환아의오빠가 Hypospadia(47, XXY) 로수술병력이있었다. 임상검사, 구강검사및방사선사진검사결과녹내장, 동공이상, 제탈장, 지연된골령등 Axenfeld-Rieger 증후군의전형적인전신적특징을보이고있었다 (Fig. 1, 2). 구강내소견을살펴보면파노라마방사선사진을참조했을때 3개의유치 ( 상악우측유중절치, 상악좌우측유측절치 ) 결손과더불어 13개의영구치배 ( 상악좌우측중절치, 측절치, 견치, 제1소구치, 제2소구치및하악좌우측제1소구 Fig. 1. Frontal view. Fig. 2. Lateral view

Fig. 3. Intraoral view of Mx. Arch. Fig. 4. Intraoral view of Mn. Arch. Fig. 5.

측모두부계측을통해상악의저성장과하악의정상적인성장을확인하였다 (Fig. 7).

심미및기능적측면을고려한의치나인공치를포함한가철성장치를고려할수있으며, 더불어성장완료후중안모의골격적저성장을개선하기위한악교정수술가능성도계획하고있다. Ⅲ.

13). 1935년에 Rieger는부분무치악과함께안전방의부분적결손을보이는유전성증후군을 Dysgenesis mesodermalis coreae et

3 Fig. 3. Intraoral view of Mx. Arch. Fig. 4. Intraoral view of Mn. Arch. Fig. 5. Intraoral frontal view. Fig. 6. Panoramic radiograph. 치, 제2소구치 ) 가관찰되지않았다 (Fig. 3-6). 측모두부계측을통해상악의저성장과하악의정상적인성장을확인하였다 (Fig. 7). 향후주기적인관찰과함께환아의치과적, 두개안면적문제에대한적절한시기의치료개입이필요하다고판단된다. 심미및기능적측면을고려한의치나인공치를포함한가철성장치를고려할수있으며, 더불어성장완료후중안모의골격적저성장을개선하기위한악교정수술가능성도계획하고있다. Ⅲ. 총괄및고찰 Axenfeld-Rieger 증후군은 Vossius가 1883년, 9세여환에서의양측성홍채 (Iris) 결손및치과적이상을보고하면서다양한명칭하에연구및발표되었다 12). 1920년 Axenfeld는각막후방에백선이존재하고주변의선조가연장되어있는환자에대해보고하며 Embryotoxon cornea posterius 로명명하였다 13). 1935년에 Rieger는부분무치악과함께안전방의부분적결손을보이는유전성증후군을 Dysgenesis mesodermalis coreae et iridis 로보고하였다 14). 이후, Axenfeld anomaly, Rieger anomaly, Rieger syndrome 등으로명해졌으나모두가같은유전자이상에의한것으로밝혀져, 1996년 Walter에의해안과적문제에전신적증상이동반되지않은경우를 Fig. 7. Cephalometric radiograph. Axenfeld-Rieger anomaly, 전신적증상을동반한경우를 Axenfeld-Rieger syndrome 으로분류되었다 15)

4 대한장애인치과학회지 6(2) 2010 Axenfeld-Rieger 증후군계열질환들의특징은각막주변에관찰되는하얀색링인데, 이는소주망 (Trabecular meshwork) 의 Schwalbe s line이현저히전방으로변이되면서나타난현상으로후태상환 (Posterior embryotoxon) 이라한다 16). 또한이증후군의가장심각한안과적질환은녹내장이다. 약 50% 의환자에서발병하며, 시기는매우다양하다. 조절이어려우며수술필요가능성이높고, 실명까지진행될수도있다 1,2,17). 구강악안면적증상은부분적무치증이특징이지만, 그외에도보통정형 (Peg-shaped) 을띠는왜소치 3,16,18), 맹출지연 19), 상악열성장과가성하악전돌증등이있다 20). 이러한전안방기형의원인에대한다양한설명이있었으나, 현재가장타당하게받아들여지는기전은신경능 (Neural crest) 조직의발달장애에의한외배엽조직결함 (Ectodermal tissue defect) 이원인이라는것이다 2,4,21,22). 신경능세포 (Neural crest cell) 는눈, 두개안면조직, 뇌하수체, 배꼽, 법랑기 (Dental organ) 형성에중요한역할을함이밝혀졌으며, 때문에 Axenfeld-Rieger 증후군에서나타나는안과적, 치과적, 전신적이상에대한적절한설명이될수있다 4). 그러나보다정확한기전에대한연구가필요하다 23). Axenfeld-Rieger 증후군의유전적원인으로염색체 4q, 13q, 6p의결손 (Deletion), 전위 (Translocation) 으로알려져있으며상염색체우성유전의특징을보인다고여겨진다 22). 그러나이들염색체의변이가모든 Axenfeld-Rieger 증후군의증상을설명하지못하며추가적인변이가존재할수있다. 본증례의환자의경우, 녹내장, 동공이상, 제탈장, 지연된골령등 Axenfeld-Rieger 증후군의전형적인전신적특징을보이고있었으며구강과관련하여다수치아및치배의선천적결손과상악의저성장양상을보였다. 이에따라, 주기적인관찰과함께환아의치과적, 두개안면적문제에대한적절한시기의치료개입이필요하다고판단되며필요한경우의치나인공치를포함한가철성장치를고려할수도있다. 또한성장완료후중안모의골격적저성장을개선하기위한악교정수술가능성도계획하고있다. Axenfeld-Rieger 증후군은매우희귀하며, 안과및전신적문제는조기에발견하기가매우어렵기때문에치과의사에의한조기진단이녹내장등에의한시력상실을방지하기위해매우중요하다. Ⅳ. 요약저자는 Axenfeld-Rieger 증후군을가지는 5세 8개월연환에대한구강및두개안면에대한임상적, 방사선학적관찰을통해다음과같은지견을얻었다. 1. 본증례의환아는 Axenfeld-Rieger 증후군의전형적인안과적, 구강적, 전신적특징인녹내장, 동공이상, 제탈장, 지연된골령, 다수치아및치배결손, 상악저성장등을보였다. 2. 이에대한주기적인관찰과적절한시기의치료개입이중요하다. 3. 치과의사에의한조기진단이녹내장등에의한시력상실을방지하기위해중요하다. 참고문헌 1. Duane T. Jaeger E : Clinical Ophthalmology, vol 3 Philadelphia, PA, Harper and Row, Brooks JK, Coccaro PJ, Zarbin MA, et al. : The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Pathol, Rieger H : Beitrage zur kenntnis seltener miss-bildugen der iris. Graefe Arch Ophthal, 133: , Unger L : Beitrag zur sogen. Dysgenesis mesodermalis corneae et iridis[rieger]. Ophthalmologica, 132:27-35, Dimitrakopoulos J, Voyatzis N, Katopodi T : Rieger syndrome : a case report. J Oral Maxillofac Surg, 55: , Zygulska-Machowa H : Dysgenesis mesodermalis corneae et iridis. Klin Oczna, 34: Alkemade PPH : Dysgenesis mesodermalis of the iris and cornea. A study of Rieger s syndrome and Peters anomaly, Assen, The Netherlands, Van Gorcum, p , Henkes HE : Acquired corneal dystrophy. Br J Ophthal, 49:521, Crawfoed RAD : Iris dysgenesis with other anomalies. Br J Ophthal, 51:438, Falls HF : A gene producing various defects of the anterior segment of the eyes. Am J Ophthal, 32:41-52, Reese AB, Ellsworth RA : The anterior chamber cleavage syndrome. Arch Ophthal, 75:307, Jorgenson RJ, Levin LS, Cross HE, et al : The Rieger syndrome. Am J Med Genet, 2(3): , Vossius A : Congenitale abnormalien der iris. Klin Monatsbl Augenheilkd, 21: ,

5 13. Axenfelt T : Emryotoxon corneae posterius, Ber Deutsch Ophthalmol Ges, 42: , Rieger H : Beitrage zur kenntnis seltener missbil-dugen der iris. Graefe Arch Ophthal, 133: , Walter MA, Mirzayans F, Mears, et al : Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology, 103: , Langdon JD : Rieger s syndrome. J Oral Surg, 30: , M Bruce Shield, Edward Buckely, Gordon K Klintworth, et al : Axenfeld-Rieger Syndrome. A Spectrum of Developmental Disorders. Surv Ophthalmol, 29(6): , Heckenlively JR, Isenberg SJ, Fox LE : The Rieger syndrome : a heritable disorder associated with glaucoma. Johns Hopkins Med J, 151(6): , Cross HE, and the others : The Rieger syndrome : and autosomal dominant disorder with ocular, dental and systemic abnormalities. Perspect Ophthal, 3(1):3-16, Fitch N, Kaback M : The Axenfeld syndrome and the Rieger syndrome. J Med Gene, 15(1):30-34, Childer NK, Wright JT : Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. J Oral Pathol Med, 15: , Amendt BA, Semina EV, Alward WLM : Rieger syndrome : a clinical, molecular, and biochemical analysis. Cell Mol life Sci, 57: , Alward W LM : Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol, 130: ,

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A 617 Special Issue Diabetic Retinopathy Won Ki Lee, M.D. Department of Ophthalmology The Catholic University of Korea College of Medicine Kangnam St. Mary s Hospital E mail : wklee@catholic.ac.kr Abstract R