대한소아치과학회지 37(4) 2010 Freeman-Sheldon Syndrome 의치료에대한고찰 김지훈 1 이정섭 2 장채리 1 연세대학교원주의과대학 1 소아치과학교실, 2 교정학교실 국문초록 Freeman-Sheldon Syndrome(FSS) 은드물게발생하는선천성유전질환으로휘파람을부는듯한특징적인안모로인해 Whistling face syndrome 으로불리워진다. 또한편평한안모, 긴인중 (philtrum), 낮은비연골이나타나두드러진안면이상을보이고, 내반족 (club foot, 內 ), 손가락의관절구축 (joint contracture) 으로인한풍차모양의손을가지며, 지능은보통정상이다. 본원에내원한환아는이질환의특징적양상인구강주위근육의수축으로소구증및개구제한, 높은구개및부정교합, 치열의심한총생을보여구강위생이매우불량하였고치과치료에비협조적이었다. 소아치과적행동조절및구강위생관리, 섭식장애의상담으로치과적문제는다소개선되었으나, 안과및정형외과, 신경정신과, 교정과, 마취과적문제로인해다양한협진이필요하며계속적인관찰및치료가요구되기에이를보고하는바이다. 주요어 : Freeman Sheldon Syndrome, Whistling face syndrome, Multidisciplinary care Ⅰ. 서론 Freeman-Sheldon Syndrome(FSS) 은드물게발생하는선천적질환으로상염색체 (11p15.5) 결함으로인해휘파람을부는듯한특징적인안모를보여 Whistling face syndrome, 또는 원심관절만곡증 2A (DA2A, Distal arthrogryposis type 2A), 머리손목발목형성이상 (craniocarpotarsal dysplasia), 풍차바람개비손증후군 (Windmill-Vane-Hand syndrome) 이라고불리워진다 1-5). Freeman과 Sheldon에의해 1938년처음보고되었으며 1), 근육의비정상적수축과관련된다양한증상들을보인다 3). 임상적으로매우특징적인형태를보이는데, 안모와손, 발의기형이나타나지만지능은보통정상이며정상적인수명을가진다 6,7). 상염색체우성형태의경우, 입술주위의잔주름과함께소구증을보이고, 손가락척골 (ulnar) 의변형으로합지증 (camptodactyly) 이나타나며, 발이내측으로돌아간내반족 (equines-varus-supine Clubfeet) 을가진다 7). 상염색체열성의형태에서는훨씬더드물고발견하기어렵지만, 더심각한임상적양상을나타낸다 8). 특히, 구강주위근육의수축으로인한작은입과코때문에연하와호흡이어려워, 장애를더심각하게만들며때때로기도폐쇄방지를위해기도절개술 (tracheotomy) 이요구되기도한다 9-11). 안모는편평하며, 긴인중과낮은비연골을보이고, 작은입으로인한개구제한및부정교합, 심한총생으로구강위생관리가어려워다발성우식이진행되는경우가많다 12). FSS는원심부관절만곡증 (distal arthrogryposis) 을보이는데, 증상의정도에따라 DA1(distal arthrogryposis type 1) 과 DA2A(distal arthrogryposis type 2A), DA2B((distal arthrogryposis type 2B) 로분류하기도한다 6-8). 대개 DA1 이증상이가장적으며, 다음으로 DA2B 가치료가어려운추가적인증상들을가진다. DA2A가가장증상이심각하여많은기형들을보이며, 이에대한치료도쉽지않다 8). 다양한정도의원심부관절만곡을보이는 FSS는일종의선천적근육질환 (myopathy) 으로서 2006년 Stevenson 등에의해 DA2A 의진단기준을제시한바있다 6). 진단기준에따르면 2개이상의원심부만곡과, 소구증 (microstomia) 및휘파람을부는듯한안모 (Whisling face), 팔자주름 (nasolabial creases), 특징적인보조개 (H-shaped chin dimple) 의증상들을포함한다 6,7). 교신저자 : 김지훈강원도원주시일산동 162 / 연세대학교원주의과대학소아치과학교실 / 033-741-0673 / pedo@yonsei.ac.kr 원고접수일 : 2010 년 09 월 25 일 / 원고최종수정일 : 2010 년 11 월 10 일 / 원고채택일 : 2010 년 11 월 13 일 545
J Korean Acad Pediatr Dent 37(4) 2010 본원에내원한환아는질환의다양한특징들을출생직후부터모두가지고있었고 FSS 로진단되어정형외과, 소아과에서치료를받던중, 치과적문제로소아치과로의뢰되었다. Ⅱ. 증례보고환아는 11세 9개월의남아로섭식장애및구강위생불량으로소아과로부터의뢰되었다. 의뢰당시환아는심각한다발성우식으로인한동통및치태로인한치은염, 개구제한으로인한섭식장애를보이고있었다. 인근개인치과를여러군데내원하였으나, 개구제한에따른치료의어려움및비협조적인행동으로치료를기피하였고, 섭식장애로인하여연령에비해왜소한체구를보였다. 구강내임상및방사선검사결과, 다음과같은다양한문제들이발견되었다. 을나타냈다 (Fig. 1-3). 개구제한으로섭식및구강위생관리의어려움을호소하였으며, 전반적인치태의축적및다발성치아우식, 치은염을보이고있었다 (Fig. 4, 6). 특히작은입은영양섭취를위한섭식을어렵게만들고있었고, 보호자에따르면저작도힘들어식사때마다씹지못한음식물로인해항상질식의위험에노출되고, 기도폐쇄가되어도이물질을제거하기가어려웠다고한다. 이로인한섭식장애및식사기피는나이에비해현저한저체중및신장을야기하고있었다 (Fig. 5). 또한작은입과좁은구강공간은발음형성시에도장애로작용하여정상적인지능임에도불구하고분명하지못한발음을보였다. 1. 치과적문제 구강주위근육의수축 (peri-oral muscle contracture) 으로휘파람을부는듯한안모를보이며작은입을가지고있었고, 이로인한상하악의저성장및치열의총생, 좁고높은입천장 Fig. 3. Peri-oral Muscle Contracture. Fig. 1. Characteristic face of FSS patient. Fig. 4. Severe dental caries. Fig. 2. Whistling mouth. Fig. 5. mouth-opening restriction. 546
대한소아치과학회지 37(4) 2010 2. 신체적문제환아는역시 FSS의특징중하나인내반족 (club feet) 과풍차모양의손 (Windmill vane hand), 척추측만증및성장지연을보였다 (Fig. 7). 발이내측으로휘어져있어보행에어려움을주어특수한신발을신고도자주넘어져잦은외상의위험에노출되어있었고, 정형외과에서내반족과척추측만에대한치료를병행하고있었다. 손가락은풍차모양으로접혀있는특징을보였고, 이로인해물건을집거나손가락으로가르키는행동이어려웠으며, 칫솔을집거나연필을잡는데힘들어했다 (Fig. 7). 3. 안과적문제 꺼풀이아래로쳐져시야가좁다. 그리고사시 (strabismus) 를보이는경우가많고, 눈을작고가늘게만드는검열축소증 (blepharophimosis) 을가지고있어본원에내원한환아역시안과적으로도문제를가지고있었다 (Fig. 8). 4. 호흡환아는너무작은코와입, 구강주위근육의수축, 좁아진비도로인해항상질식의위험을가지고있다. 내원당시상기도감염으로코가막혀있었는데, 감기등의질환이아니어도음식이나물을마실때항상어려움을가지고있었고, 낮은코와함께긴인중을보였다 (Fig. 9). FSS 환자들은또한특징적으로움푹들어간눈을보이며, 눈 Fig. 8. Sunken & drooped eyelid, Blepharophimosis. Fig. 6. Panoramic radiograph of patient. Fig. 9. Long Philtrum. The distance between the nose and mouth is extended. Fig. 7. Windmill vane hand. Fig. 10. Oral prophylaxis and dental treatment. 547
J Korean Acad Pediatr Dent 37(4) 2010 Ⅲ. 총괄및고찰 Ⅳ. 요약 본원에내원한환아는원심관절만곡증을특징으로하는 FSS로진단되어선천적인근육병변 (congenital myopathy) 으로인해다양한신체장애및구강기형과관련된질환을가지고있었다. 특히치과적으로입술주위근육의수축및이로인한개구장애, 소구증은구강위생관리및치료를어렵게하였고, 그로인해다발성치아우식및치주질환을야기하였다 12,13). 그러나선천성장애로인한빈번한병원방문및상담은환아로하여금치과에대한부정적인식및태도를초래하여치료에비협조적인반응을나타내었다. 더구나 FSS 환자들은기형적안모와신체를가지지만본원에내원한환아처럼정상적인지능을가지는경우가많아, 외모에대한스트레스및그로인한자신감의결여와같은심리적고통을겪기도한다 6,7,14, 15). 증례의환아는초기에치과에대한부정적인식및비협조도로일반치과에서치료를기피하였고, 소아과의의뢰로본원소아치과로내원하였다. 기본적인심리적행동조절하에구강검사및위생교육이정기적으로진행되었고환아의협조도는긍정적으로개선되었으나, 좁은구강및개구제한으로다발성치아우식의치료에어려움을가지고있었다. 구치부접근및신경치료를위해서는우선적으로개구를제한하는구강주위근육에대한구강외과적, 성형외과적수술이요구되며이를통해좁은구강은개선될수있다. 다발성우식에대한총체적치료는수술이후로연기되었으나, 그전까지우선구강위생에대한관리및보존적치료, 응급치료위주의치과치료가계획되었다 (Fig. 10). 그러나전신마취를통한 FSS 환아의수술시, 환아의기도삽관과정맥에대한접근이어려워전신마취를어렵게하는문제가있다 9,10). 더구나선천성근육질환인 FSS 의특성상, 전신마취시흡입마취제에의한근육의칼슘대사이상을초래하여악성고체온증 (malignant hyperthermia) 의발생위험이높고이로인해생명이위험할수도있다 3,16-18). 내반족과같은기형은특수하게만들어진신발로어느정도교정될수있으며 19), 척추측만증의경우심하면심장과폐를압박할수도있으므로이를위한수술이불가피한경우도있다 18). 안과적문제의경우에도좁아진시야역시수술을통해개선될수있다. 하지만, 모든치료및수술은전신마취에따른위험성으로인해결정이쉽지않아본원에내원한환아를비롯하여대부분의 FSS 환자들은적절한치료를받지못하고있다. 본증례의환자처럼복잡한문제를가진환아의치료에있어서무엇보다우선시되어야할것은모든치료방법의결정및방향은환아및그부모의삶의질을향상시키는쪽으로선택되어야한다는것이다. 따라서환자의신체적특징및심리상태를고려한적절한구강위생교육및관리방법의안내, 정기적인검진, 타과와의긴밀한협진을통해순차적으로환자의삶의질을개선시키는것이필요하다 14). 본원에내원한증례의환아는선천적근육이상 (congenital muscle contracture) 을보이는 Freeman-Sheldon Syndrome 으로진단되어, 휘파람을부는듯한특징적인안모와풍차모양의손, 내반족, 검열축소등의다양한기형을나타냈다. 작은입과좁은구강, 개구제한으로인해다발성치아우식및치주질환을가지고있었고, 칫솔을잡기힘든손의기형및구강주위근육의수축, 안모의기형으로위축된심리상태등을고려하여적절한구강위생관리및정기적검진, 타과와의긴밀한협진을시행하였다. 참고문헌 1. Freeman, E. A. and J. H. Sheldon. : Cranio-carpotarsal dystrophy. Arch Dis Child 13(75):277-283, 1938. 2. Krakowiak, P. A., O Quinn, J. R., Bohnsack, J. F, et al. : A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet 60(2):426-432, 1997. 3. Agritmis, A., Unlusoy, O., Karaca, S. : Anesthetic management of a patient with Freeman-Sheldon syndrome. Paediatr Anaesth 14(10):874-877, 2004. 4. Ferrari, D., Bettuzzi, C., Donzelli, O. : Freeman- Sheldon syndrome. A case report and review of the literature. Chir Organi Mov 92(2):127-131, 2008. 5. Toydemir, R. M. and M. J. Bamshad : Sheldon-Hall syndrome. Orphanet J Rare Dis 4:11, 2009. 6. Stevenson, D. A., Carey, J. C., Palumbos, J., et al. : Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 117(3):754-762, 2006. 7. Neumann, A. and P. F. Coetzee : Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia. J Plast Reconstr Aesthet Surg 62(5):e123-124, 2009. 8. Bamshad, M., Jorde, L. B., Carey, J. C. : A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65(4):277-281, 1996. 9. Laishley, R. S. and W. L. Roy : Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications. Can Anaesth Soc J 33(3 Pt 1):388-393, 1986. 10. Munro, H. M., Butler, P. J., Washington, E. J. : Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management. Paediatr Anaesth 7(4):345-348, 1997. 548
대한소아치과학회지 37(4) 2010 11. Robinson, P. J. : Freeman Sheldon syndrome: severe upper airway obstruction requiring neonatal tracheostomy. Pediatr Pulmonol 23(6):457-459, 1997. 12. Roberts, T., Stephen, L., Naidoo, T., et al. : Freeman-Sheldon syndrome: dental and orthodontic implications. J Clin Pediatr Dent 29(3):267-271, 2005. 13. Corrigan, L. A., Duncan, C. A., Gregg, T. A. : Freeman-Sheldon syndrome: a case report. Int J Paediatr Dent 16(6):440-443, 2006. 14. Benierakis, C. E. : The function of the multidisciplinary team in child psychiatry-clinical and educational aspects. Can J Psychiatry 40(6):348-353, 1995. 15. Doherty, W. J., McDaniel, S. H., Hepworth, J. : [Medical family therapy in children with chronic illness]. Prax Kinderpsychol Kinderpsychiatr 47(1):1-18, 1998. 16. Ohyama, K., Susami, T., Kato, Y., et al. : Freeman- Sheldon syndrome: case management from age 6 to 16 years. Cleft Palate Craniofac J 34(2):151-153, 1997. 17. Cruickshanks, G. F., Brown, S., Chitayat, D. : Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway. Can J Anaesth 46(8):783-787, 1999. 18. Richa, F. C. and P. H. Yazbeck : Anaesthetic management of a child with Freeman-sheldon syndrome undergoing spinal surgery. Anaesth Intensive Care 36(2):249-253, 2008. 19. Malkawi, H. and M. Tarawneh : The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature. J Pediatr Orthop 3(3):364-369, 1983. 549
J Korean Acad Pediatr Dent 37(4) 2010 Abstract MULTIDISCIPLINARY CARE OF FREEMAN SHELDON SYNDROME Ji-hun Kim 1, Jeong-Sub Lee 2, Cherry Chang 1 1 Department of Pediatric Dentistry, 2 Department of Orthodontics, Wonju College of Medicine, Yonsei University Freeman-Sheldon Syndrome (FSS, also known as Whistling Face Syndrome ) is a rare genetic condition which characteristically includes a small whistling mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness. The patient, 11 years old boy was consulted from pediatrics to pediatric dentistry due to dental management. After clinical & radiographic examinations, severe multiple problems were found. Dental problems were microsomia(whistling mouth) & micrognathia, perioral muscle contracture, restricted mouth opening, poor oral hygiene & care, generalized dental caries, high palatal vault, severe malocclusion & crowding. And Orthopedic problems, ophthalmic & respiratory, anesthetic problems were found. Then He also had psychiatric problem, hospital(dental) phobia due to previous medical history(frequent hospitalization). And he had genital problem, cryptochidism, too. Due to these intricate problems, he suffered with feeding, swallowing difficulties and showed growth retardation. For enhancing patient s oral health, pediatric dentist, orthodontist, oral surgeon, pediatrician, psychiatrist, orthopedist, they all agree with early, cautious intervention and treatment. So, he has been treated by multidisciplinary care, now he is recovering general health maintenance. Key words : Freeman Sheldon Syndrome, Whistling face syndrome, Multidisciplinary care 550