http://dx.doi.org/10.12655/kadh.2014.10.1.26 ISSN (print) 1738-8813 ISSN (online) 2287-7134 증 례 Prader-Willi syndrome 환자의치과치료 : 증례보고 이명연 정연욱 김성오 최형준 손흥규 이효설 * 연세대학교치과대학소아치과학교실 Abstract DENTAL MANAGEMENT OF A PATIENT WITH PRADER-WILLI SYNDROME : A CASE REPORT Myeong-Yeon Lee, Younwook Jung, Seong-Oh Kim, Hyung-Jun Choi, Heung-Kyu Son, Hyo-Seol Lee* Department of Pediatric Dentistry, College of Dentistry, Yonsei University, Seoul, Korea Prader-Willi syndrome (PWS) is a rare neurodevelopmental disease caused by abnormality of chromosome 15q11-13. The estimated prevalence of PWS is 1/10,000-30,000. Most common features of this disease are feeding problems characterized by poor sucking habit related with neonatal or infantile hypotonia and obesity due to early childhood hyperphagia involved with lack of satiety. In the orodental findings, enamel hypoplasia, rampant caries, delayed eruption, poor oral hygiene, hypodontia, supernumerary teeth, increased tooth wear, decreased salivary flow and change in saliva composition were reported. This case report describes the dental treatment of 3-year-9-months-old male patient with PWS. Periodic check-ups and conservative treatments were followed, however, rapid dental caries progression caused by estimating hyposalivation was observed. Because of lack of patient cooperation, dental procedures were performed under general anesthesia. [J Korean Dis Oral Health Vol.10, No.1: 26-30, June 2014] Key words : Prader-Willi syndrome, Hereditary neuropathy, Dental management, Oral health Ⅰ. 서론 Prader-Willi syndrome(pws) 은 15q11.2-q13유전자의발현이상으로나타나는신경발달적질환으로 1956년 Prader 등에의해처음보고되었다. 유병률은 10,000 ~30,000 : 1로나타나며, 그중상기부위의부계유전자결실이원인이되는경우가 65~75%, 15번염색체의모계 Corresponding author : Hyo-Seol Lee 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea Department of Pediatric Dentistry, College of Dentistry, Yonsei University Tel: +82-2-2228-3178, Fax: +82-2-392-7420 E-mail: SPECIALDENTIST@yuhs.ac 원고접수일 : 2014.06.14 / 원고최종수정일 : 2014.06.25 / 원고채택일 : 2014.06.25-26 - 편친이체성이원인이되는경우가 20~30%, 각인결손이원인이되는경우가 1~3% 를차지한다. 현재는 DNA 메틸화검사, 형광동소교잡반응검사등의유전자검사를통해감별해낼수있으며, 그외에도특징적인외모및임상적인증상을통해진단을내릴수있다 1-3). 본증후군의가장특징적인임상소견은출생후연령에따라변화하는이상식이습관이다. 출생시의근긴장저하로인한흡입장애는식욕저하를일으키나, 유아후기에서아동초기에이르면포만중추의이상으로인하여식욕항진이나타나고, 이로인하여비만증세를나타내기쉽다 4-6). 그외에도발달지연, 지적장애, 성장호르몬결핍및성장장애, 성호르몬결핍, 수면무호흡, 색소저형성, 작은키, 반복적이
고의례적인행동양식, 피부뜯기와같은특징적인증상이나타난다. 또한, 외견적특징으로는좁은이마, 아몬드형태의눈, 가는윗입술, 구각부의처짐, 어깨처짐과같은모습을보인다 2,6,7). 구강영역의특징으로는다발성우식증, 치아마모증, 법랑질저형성증, 맹출지연, 타액분비량감소및타액구성성분변화, 과잉치, 소악증등이관찰된다. 다발성우식증과치아마모증과같은구강내질환은타액성상의변화에서야기되는것으로보인다. 본증후군의환자는대체로타액의분비량이감소하고, 타액의점주도가증가하는양상을보인다 8-10). 저자들은연세대학교치과병원소아치과에내원한 PWS 환아의전신마취하치아우식치료를시행한증례를보고하고자한다. Ⅱ. 증례보고생후 35개월의남자환아가개인의원에서전신마취하에치아우식치료가필요하다는이야기를들었다는주소로 2013년 5월 15일연세대학교치과병원소아치과에내원하였다. 출생시 PWS 진단을받았고, 2011년 1월과 4월에각각원인을알수없는심낭삼출로인하여소아심장과에서심낭천자시술을받은경력이있다. 이전의치과적병력은없었다. 내원당일구강검진결과환아는불량한구강위생상태와다발성우식증이관찰되었다. 환아는좁은이마, 아몬드형태의가는눈, 가는윗입술, 구각부의처짐, 어깨처짐, 색소저형성등본증후군특유의외견이관찰되었다 (Fig. 1A). 운동발달장애로인하여자립보행이어렵고 (Fig. 1B), 언어발달역시늦은편이다. 아직, 특징적인식욕항진증은나타나지않았으나, 초진이후 10개월간의정기검진과정에서체중이 7.3kg 증가하여 Miller등의평가에의하면 Nutritional phase 2a 단계에속한것으로평가된다 5). 구강내소견으로는타액의점주도증가, 타액분비감소, 다발성우식증, 높은구개, 법랑질저형성증, 치아마모증이관찰되었다 (Fig. 2, Fig. 3A). 초진이후 10개월에걸쳐전체구치부에대한글래스아이오노머수복및치면열구전색의보존적인수복치료와지속적인구강위생관리를시행하였으나, 치아우식이재광화소견없이계속진행되는양상을보이고, 환아의협조도부족으로인하여전신마취하우식치료를결정하였다. 본증후군및심낭삼출병력으로인하여소아심장과에자문하였고, 2014년 3월 4일전신마취하에상악양측중절치와하악양측유견치, 제 1유구치의치수절제술, 상악양측제 2유구치와유견치, 좌측유측절치, 하악양측유견치의복합레진수복, 상악양측제1유구치, 하악양측제1 유구치, 우측제 2유구치의기성금속관수복을시행하였다 (Fig. 3B). 하악양측유중절치와유측절치는발거하였다 (Fig. 4) 치과시술후보호자에게 3개월간격의정기검진을권고하였다. A B Fig. 1. Extraoral photo. (A) The patient has specific appearance of PWS such as almond shaped eyes, narrow forehead, thin upper lip, down-warded mouth corner. (B) The patient cannot maintain an upright position by himself due to delayed motor development. - 27 -
Korean Association for Disability and Oral Health 10(1) 2014 Fig. 2. Pre-operative intraoral radiograph. A B Fig. 3. Intraoral photo. (A) Before treatment. (B) After dental caries treatment under general anesthesia. - 28 -
Fig. 4. All the 4 mandibular deciduous incisors had been extracted. Fig. 5. In an intubation procedure, constricted airway due to obseity should be carefully evaluated. Ⅲ. 고찰 PWS는 15번염색체 (15q11.2-q13) 의결손혹은모계편친이체성으로인하여발병하는데, 염색체해당부위의부계편친이체성이생길경우 Angelman syndrome(as) 이발병하고 PWS와는임상적특징을통해감별가능하다. AS 의경우소두증, 보조운동실조, 정신지체, 언어장애, 잦은웃음이특징적이며, 구강영역의특징으로는혀내밀기, 하악전돌, 치간이개, 얇은상순이있다 1). PWS에수반되는여러가지증상은전신마취를시행할때충분히주의깊게평가되어야한다. 먼저, 영유아기의근긴장저하는자발호흡의회복지연및호흡기합병증발생가능성을높인다. 그러므로, 근이완제의사용여부및종류선별에주의해야한다. 또한, 비만및소악증, 높은구개궁, 척추측만으로인하여기도확보에어려움이있다 (Fig. 5). 기도확보불가시적절한환기가어려우므로폐부전, 폐흡인등의합병증이발생가능하다. 식욕항진으로인하여술전금식을지키기어려운문제도존재한다. 특히나, 지적장애및분노발작이더불어나타나고, 몰래음식을훔쳐먹는습관이있으므로보호자에게주의를기울일것을당부하여야한다. 그외에도탄수화물-지방대사변화로인한혈당유지의어려움과신경발달장애가진아동에게흔히동반되는문제인체온조절의어려움이있다 11-13). 본증례의경우환아는본증례의경우 PWS 뿐만아니라원인을알수없는심낭삼출의병력으로인하여해당하는전문의에게평가를의뢰하였고, 전신마취진행과정및마취회복과정에서특기할만한술후합병증은일어나지않았다. PWS 환자의구강영역내특징을보면, 타액의분비량감소및점주도증가로인한다발성우식증과치아마모증, 법 Table 1. Risk factors for dental problems in PWS Enamel hyplasia Decreased salivary flow Thick and sticky saliva Change in saliva composition Hyperphagia Poor oral hygiene Intellectual disability Increased tooth wear Psychiatric disturbance 랑질저형성증, 맹출지연, 소악증, 핍치증, 과잉치등이주로관찰된다. 다발성우식증과치아마모증등의구강질환을유발할수있는본증후군의위험요소에관하여정리해보았다 (Table 1). 일반적으로 PWS 환자의타액분비량은감소하지만타액구성성분의변화가이루어져무기이온과단백질의함량은증가하기때문에증상을일찍진단하고, 충분한위생관리가이루어진다면구강건강을유지할수있다고보고된다 8-10). 본증례의환아에서도다발성우식증, 타액분비감소, 치아마모증, 높은구개등 PWS 환자에게서나타나는일반적구강질환을발견할수있었다. 본증후군특유의식욕항진증이나타나기전충분한구강위생관리를통해우식의진행을멈추고가능한재광화를기대하는보존적수복을시행하였으나, 환아의구강위생관리능력부족으로인하여급속한치아우식이진행되는양상이보여전반적인우식의수복을결정했다. PWS의치료는성장호르몬및성호르몬투여를통해정상적인발달단계를유지하며, 엄격한식이조절로비만및 - 29 -
Korean Association for Disability and Oral Health 10(1) 2014 당뇨의발현을막는것으로이루어진다. 특히본증례의환아의경우현재특정한식이장애를나타내지는않으나향후성장과정에서포만중추의이상과연관된식욕항진이나타날것으로예상된다. 또한, 지능장애와학습장애의발현빈도가매우높으므로주의깊은경과관찰을필요로한다. 구강영역의관리로는타액성상변화와구강위생관리의어려움으로치아우식증및치주질환의발병가능성이높기때문에평소식이제한과더불어주기적인전문구강위생관리가필요하다. Ⅳ. 요약프라더윌리증후군과원인을알수없는심낭삼출을앓고있는 3세남환이치아우식을주소로내원하여임상구강검사결과다발성우식증과구강전반에걸친치아마모증이관찰되었다. 약 10개월간보존적인수복치료와구강위생관리를시도하였으나, 치아우식의빠른진행과환아의협조도부족으로전신마취하우식치료를시행하였다. 참고문헌 1. Buiting K : Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet, 154C(3):365-376, 2010. 2. Cassidy SB, Schwartz S, Miller JL, et al. : Prader-Willi syndrome. Genet Med, 14(1):10-26, 2012. 3. Powis L, Oliver C : The prevalence of aggression in genetic syndromes: a review. Res Dev Disabil, 35(5):1051-1071, 2014. 4. McAllister CJ, Whittington JE, Holland AJ : Development of the eating behaviour in Prader- Willi Syndrome: advances in our understanding. Int J Obes (Lond), 35(2):188-197, 2011. 5. Miller JL, Lynn CH, Driscoll DC, et al. : Nutritional phases in Prader-Willi syndrome. Am J Med Genet A, 155a(5):1040-1049, 2011. 6. Whittington J, Holland A : Neurobehavioral phenotype in Prader-Willi syndrome. Am J Med Genet C Semin Med Genet, 154C(4):438-447, 2010. 7. Reus L, Zwarts M, van Vlimmeren LA, et al. : Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning. Neurosci Biobehav Rev, 35(3):956-969, 2011. 8. Bailleul-Forestier I, Verhaeghe V, Fryns JP, et al. : The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients. Int J Paediatr Dent, 18(1):40-47, 2008. 9. Hart PS : Salivary abnormalities in Prader-Willi syndrome. Ann N Y Acad Sci, 842:125-131, 1998. 10. Saeves R, Reseland JE, Kvam BM, et al. : Saliva in Prader-Willi syndrome: quantitative and qualitative characteristics. Arch Oral Biol, 57(10): 1335-1341, 2012. 11. Cho EC, Jee SE, Jang Y, et al. : Prader-Willi Syndrome: A case report. Korean J Anesthesiol, 36(6):1091-1094, 1999. 12. Kang K, Park SE, Cho YW, et al. : Prader-Willi Syndrome: A case report. Korean J Anesthesiol, 46(6):751-754, 2004. 13. Kim JY, Lee JH, Kim EJ, et al. : Anesthetic management in a pediatric patient with infantile phase Prader-Willi Syndrome: A case report. Korean J Anesthesiol, 57(2):259-263, 2009. - 30 -