clinical case - Dental and Medical Problems
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clinical case - Dental and Medical Problems
CLINICAL CASE Dent. Med. Probl. 2011, 48, 1, 103–107 ISSN 1644-387X © Copyright by Wroclaw Medical University and Polish Dental Society Aneta Witt1, Dorota Olczak-Kowalczyk1, Maria Ginalska-Malinowska2, Małgorzata Zadurska3 Oral Findings in Prader-Willi Syndrome – Case Report Zmiany w jamie ustnej w zespole Pradera-Willego – opis przypadku Department of Pediatric Dentistry, Institute of Dentistry, The Medical University of Warsaw, Poland Department of Endocrinology, The Children’s Memorial Health Institute, Warsaw, Poland 3 Department of Orthodontics, Institute of Dentistry, The Medical University of Warsaw, Poland 1 2 Abstract The article describes the phenotypic features of Prader-Willi Syndrome (PWS) and their impact on the oral health status of a boy aged 11.7 years. Prader-Willi Syndrome is usually caused by a chromosomal aberration, i.e. a partial deletion of the long arm of the paternal chromosome 15q11-q13. The clinical picture of Prader-Willi Syndrome is complex and alters with age. It is mostly due to impaired hypothalamus function. The characteristic features include short stature; muscular hypotonia; hypopigmentation of the skin and hair; a triangular facies, frequently with a small mouth with a thin upper lip and down-turned corners; and diminished secretion of thick and sticky saliva. The case report focuses on the type of abnormal saliva secretion, injury lesions of the oral mucosa (caused by self-destructive behaviour), bacterial and fungal infection, bruxism and susceptibility to dental caries. The results of an orthodontic assessment are included, and the difficulties in preventative and therapeutic management caused by the behavioral and emotional problems typical of PWS are considered (Dent. Med. Probl. 2011, 48, 1, 103–107). Key words: Prader-Willi Syndrome, saliva, dental caries, bruxism. Streszczenie W pracy przedstawiono cechy fenotypowe zespołu Pradera i Willego oraz ich wpływ na zdrowie jamy ustnej u 11,7-letniego chłopca. Zespół Pradera i Willego (PWS – Prader-Willi syndrome) jest zwykle spowodowany aberracją chromosomalną – częściową delecją długiego ramienia chromosomu 15q11-q13, pochodzącego od ojca. Obraz kliniczny zespołu jest złożony i zmienia się wraz z wiekiem pacjentów. W znacznej mierze jest wynikiem zaburzeń funkcji podwzgórza. Za charakterystyczne cechy uważa się niski wzrost, hipotonię mięśniową, hipopigmentację skóry i włosów, trójkątny kształt twarzy, często z małymi ustami, wąską górną wargę i zwróconymi ku dołowi kącikami ust oraz zmniejszone wydzielanie śliny, która jest gęsta, lepka i ciągnąca. Podczas opisu omawianego przypadku autorzy pracy zwrócili uwagę na rodzaj zaburzenia wydzielania śliny, uszkodzenia urazowe błony śluzowej jamy ustnej (skutek zachowań autodestrukcyjnych) i zakażenia bakteryjno-grzybiczego, bruksizm i skłonność do rozwoju choroby próchnicowej. Przedstawiono również wyniki diagnostyki ortodontycznej. Zwrócono uwagę na trudności w postępowaniu profilaktyczno-leczniczym wynikające z zaburzeń behawioralnych i emocjonalnych charakterystycznych dla zespołu Pradera i Willego (Dent. Med. Probl. 2011, 48, 1, 103–107). Słowa kluczowe: zespół Pradera-Willego, ślina, próchnica, bruksizm. Prader-Willi Syndrome (PWS) is usually caused by a chromosomal aberration, i.e. a partial deletion of the long arm of the paternal chromosome 15q11-q13. It occurs with an incidence between 1 : 15,000 and 1 : 50,000 live births [1, 2]. The clinical picture of the syndrome is complex and alters with age. It is mostly caused by impaired hypothalamus function. Characteristic features include short stature, muscular hypoto- nia and a triangular facies, frequently with a small mouth with a thin upper lip and down-turned corners. The diagnostic criteria for Prader-Willi Syndrome are classified according to their significance. Major PWS criteria include neonatal hypotonia, feeding problems in infancy, characteristic facial features, excessive weight gain, hypogonadism, developmental delay and hyperfagia leading to obesity. Minor criteria include decreased fetal 104 activity, behavioral and emotional problems (stubbornness, obsessive-compulsive behaviors, hyperactivity, aggressiveness), self-destructive behaviors (e.g. picking at the skin), mental retardation, delayed speech and memory development, sleep disturbances, short stature, hypopigmentation of the skin and hair, small hands and diminished secretion of thick and sticky saliva. Supportive findings such as scoliosis, osteoporosis and a high pain threshold are also used in diagnosing PWS [1–7]. The clinical features that should lead to a suspicion of a diagnosis of PWS depend on the age of the patient. In infants the most characteristic feature is unexplained hypotonia and poor sucking skills. During childhood, a genetic test for PWS should be performed on obese children with learning disabilities, specific dysmorphic features and a history of neonatal hypotonia. Finally, genetic testing should be considered in adolescents and adults with a less marked phenotype but with behavioral problems in addition to obesity and hypothalamic hypogonadism [8]. Reports on experiences evaluating patients with PWS have frequently shown not only a decreased quantity of saliva with a thick consistency, but also a reduced resting saliva pH and a diminished buffer capacity, which, associated with frequent meals and neglected prophylactic measures, contributes to the development of dental caries [9–13]. Unfavorably altered physical and chemical saliva parameters may also entail an increased risk of enamel erosion. The authors’ clinical experience shows that emotional disorders, particularly self-destructive behaviors, predispose patients to the development of non-occlusal parafunctions (e.g. lip or cheek biting) and bruxism. This leads to lesions of the oral mucosa and attrition of the teeth. Moreover, hyperactivity, stubborness, temper outbursts and mental retardation render preventive and therapeutic management difficult. The aim of the present study was to report the results of several months’ evaluation and treatment of a patient with Prader-Willi Syndrome. Case Report The patient, aged 11.7 years and diagnosed with Prader-Willi Syndrome, was referred by an endocrinologist from The Children’s Memorial Health Institute for oral treatment because of lack of regular dental health care, and because of the presence of lower lip ulceration (the last dental follow-up appointment had taken place seven months previously). The boy was receiving growth hormone therapy and had no glucose intolerance (BMI = 19.8, between the 75th and 90th centiles). A. Witt et al. The history (obtained from the patient and his mother) revealed hyperphagia and behavioral and emotional disorders. The patient displayed obsessive-compulsive behaviors, stubbornness and self-destructive habits, i.e. picking at the skin. The mother also noted his habit of lower-lip biting and bruxism, which was aggravating by a restricted low-calorie diet. The boy had seven meals daily (including one of starch products with added saccharose and one of sweets). He did not drink fruit juices or carbonated beverages. He brushed his teeth with fluoridated toothpaste twice daily. He did not use dental floss or mouth rinses. No dental fluoridization procedure with gels or veneers had been performed. Extraoral examination revealed a symmetrical triangular facies, with a thin upper lip; functional examination showed hypotonia of the muscles of expression and mastication, and normal adulttype swallowing (Fig. 1). Intraoral examination revealed dental calculus, gingivitis, erythematous lesions of the oral mucosa, lower lip ulceration, multiple carious lesions of varying severity at the necks of all the teeth and on the masticatory surfaces of the maxillary and mandibular molar teeth, attrition of the incisor edges of the anterior teeth and of the buccal and palatal/lingual cusps of the first molar teeth (Figs 3, 4a, 4b). Bacteriology and mycology (using a direct method) were positive for Streptococcus viridans, numerous colonies of Staphylococcus aureus – MSSA (methicillin-sensitive strain), multiple colonies of Streptococcus pyogenes Group A (sensitive to erythromycin, clindamycin and penicillin-G) and multiple colonies of Candida albicans (CFU/ /ml = 103). A saliva examination using the Saliva-Check Buffer test showed a moistening rate of the lower lip mucosa of 60 seconds, thick and sticky saliva consistency, a resting saliva pH of 6.8, scanty stimulated saliva secretion (1.5 ml/5 min) and a mean buffer capacity of stimulated saliva of 9 on the color index scale. Preventive and therapeutic management as well as orthodontic assessment were initiated. The treatment started with scaling and topical management of the mucosal lesions (Octanidol, Solcoseryl adhesive paste). Dietetic and prophylactic recommendations were provided. The lower lip ulceration had healed within two weeks. However, injury lesions to the buccal mucosa and lower lip vermillion were noted on three consecutive follow-up appointments. Conservative treatment was maintained, the dental calculus was rescaled, and fluoride veneer was applied. Orthodontic examination revealed abnormal crowding of the upper and lower incisors. Cepha- 105 Oral Findings in Prader-Willi Syndrome Fig. 3. Ulceration of the lower lip and gingivitis in a boy with Prader-Willi Syndrome Ryc. 3. Owrzodzenie wargi dolnej i zapalenie dziąseł u chłopca z PWS Fig. 1. A triangular facies with a thin upper lip and hypotonia of mimical muscles of expression in a boy with PWS Ryc. 1. Trójkątny kształt twarzy z wąską wargą górną i hipotonią mięśni mimicznych u chłopca z PWS Fig. 4a. Occlusion (frontal view): dental abnormalities, crowding of upper and lower incisors Ryc. 4a. Zwarcie centralne: nieprawidłowości zębowe, stłoczenia górnych i dolnych zębów siecznych Fig. 4b. Dental caries and attrition, partial xerostomia, gingivitis in a boy with Prader-Willi Syndrome Fig. 2. Self-induced cutaneous lesions caused by compulsive picking Ryc. 4b. Choroba próchnicowa i atrycje zębów, ksero stomia częściowa oraz zapalenie dziąseł u chłopca z PWS Ryc. 2. Uszkodzenia skóry spowodowane nawykowym skubaniem lometry showed posteriorotation, skeletal Class II and retrognathia. The patient did not pursue orthodontic treatment, and resumed conservative treatment seven months later. By that time, the attrition of the first molar cusps had progressed, and was complicated by dental caries. A new attempt at treatment was undertaken; the boy was scheduled for another orthodontic management session. Tooth Mousse topical dental cream was recommended in combination with the conservative treatment. Moreover, a temporary soft occlusal splint was offered, but the patient refused to undergo the procedure. The boy’s mother admitted that the treatment had been discontinued due to the patient’s primary dentist having been absent 106 A. Witt et al. for several weeks. Attempts to continue the treatment by substitute doctors had failed. After a few appointments, the boy had persistently refused any dental procedures, and he agreed to continue treatment only when his primary dentist had returned. Discussion Providing oral health care for children with Prader-Willi Syndrome – particularly teenagers – is a difficult task. Behavioral and emotional disorders, especially attachment to fixed routines and stubbornness, require attention and patience from the dental surgeon and the assisting personnel. Moreover, emotional disturbances predispose patients to compulsive biting of the oral mucosa, and bruxism resulting in dental attrition. In our patient, bruxism was present in spite of hypotonia of the muscles of mastication and facial expression. It is known that the emotional disorders in children with Prader-Willi Syndrome are similar to those in autism, in which the risk of bruxism is higher than in the general population [14]. In children with PWS, behavioral problems, especially aggressiveness, are aggravated when food intake is limited [15]. In the case presented, the boy was on a low-calorie diet and his parents actively prevented the boy from sneaking food. Apart from his emotional state, occlusal abnormalities undoubtedly played a significant role in the pathogenesis of the boy’s bruxism [14, 16]. The characteristic facial features in Prader-Willi Syndrome coexist with changes in the bony architecture of the face, which result in different types of malocclusion. Mandibular corpus length, posterior facial height and mid-facial height are significantly smaller in patients with PWS [17, 18]. It is recommended that children with PWS should undergo orthodontic treatment. This is important not only for caries prevention and speech improvement, but also because orthodontic treatment might be helpful in obstructive sleep apnea prophylaxis and treatment in patients with Prader-Willi Syndrome [19]. In the case presented, however, severe emotional problems made the necessary orthodontic treatment impossible. Abnormal saliva secretion is another predisposing factors for oral pathologies. A reduced quantity and high density of saliva impair the self-cleaning ability of the oral cavity, increase the risk of mucosal diseases, dental caries and erosion [20, 21]. These types of abnormality may also result in difficulty in using orthodontic appliances and contribute to fungal infections. The findings in the case presented are consistent with other authors’ reports showing salivary abnormalities and frequent food consumption in patient with PWS. In most cases, patients with PWS had decreased saliva production, and saliva which was thick and sticky [3, 5, 10–13, 23, 24]. Various studies have confirmed decreased resting saliva pH and the presence of severe dental caries in patients with PWS [5, 22–24]. Greenwood and Small reported on the case of a 12-year-old girl with PWS who exhibited extensive periodontal disease [25]. In contrast to these findings, in the study of Bailleul-Forestier et al. dental caries was found only in six out of 15 subjects. The authors suggest that more favorable oral health status might be the result of early diet and oral hygiene management during childhood [11]. In patients with Prader-Willi Syndrome poor oral hygiene – usually resulting from insufficient daily hygienic procedures, malocclusion and behavioral disorders – connected with frequent sugar intake promotes the presence of severe dental caries, gingivitis and oral mucosa diseases [5, 22, 25]. In the case presented, dental calculus, gingivitis, oral candidosis and lower lip ulceration with a secondary bacterial infection was detected. Due to the medical complexity, specific behavioral aspects (stubbornness, hyperactivity, aggressiveness) and the presence of many risk factors for diseases of th oral cavity, providing successful oral health care to patients with PWS is very difficult [26]. Children with Prader-Willi Syndrome require multidisciplinary management, which means that close cooperation among different medical specialists is crucial when the medical, psychological and dental aspects of the syndrome are considered. References [1] Goldstone A.P., Holland A.J., Hauffa B.P., Hokken-Koelega A.C., Tauber M.: Recommendation for the Diagnosis and Management of Prader-Willi Syndrome. J. Clin. Endocrinol. Metab. 2008, 93, 4183–4197. [2] Cassidy B.S., Driscoll D.J.: Prader-Willi Syndrome. Eur. J. Hum. Gen. 2008, 17, 3–13. [3] Hart P.S.: Salivary abnormalities in Prader-Willi Syndrome. Ann. NY Acad. Sci. 1998, 842, 125–131. [4] Holm V.A., Cassidy S.B., Butler M.G., Hanchett J.M., Grinswag L.R. Whitman B.Y., Greenberg F.: Prader-Willi Syndrome. Consensus diagnostic criteria. Pediatrics 1993, 91, 398–402. [5] Olczak-Kowalczyk D., Ginalska-Malinowska M., Moszczyńska E., Wacińska-Drabińska M., Remiszewski A.: Environmental factors of dental caries in children with Prader-Willi Syndrome. Pol. J. Environ. Stud. 2009, 18, 6A, 74–79. Oral Findings in Prader-Willi Syndrome 107 [6] Plantin P., Milochau P., Broussine L., Blondin G.: Self-induced cutaneous lesions in Prader-Willi Syndrome. Ann. Dermatol. Venereol. 1997, 124, 390–392. [7] Lind van Wijngaarden R.F., Klerk L.W., Festen D.A., Duivenvoorden H.J., Otten B.J., Hokken-Koelega A.C.: Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi Syndrome. J. Clin. End. Metab. 2009, 4, 1274–1280. [8] Gunay-Aygun M., Schwartz S., Heeger S., O’Riordan M.A., Cassidy S.B.: The changing purpose of Prader-Willi Syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001, 108, 5, E92. [9] Witt A., Olczak-Kowalczyk D., Adamczyk Ł., Ginalska-Malinowska M., Moszczyńska E., Rokicki D.: Oral cavity environment in rare genetically determined diseases. Stomatol. Współcz. 2009, 16, 6, 8–14 (article in Polish). [10] Scardina G.A., Fuca G., Messina P.: Oral diseases in patient affected with Prader-Willi Syndrome. Eur. J. Paediatr. Dent. 2007, 8, 96–99. [11] Bailleul-Forestier I., Verhaeghe V., Fryns J.P., Vinckier F., Declerck D., Vogels A.: The oro-dental phenotype in Prader-Willi Syndrome: a survey of 15 patients. Int. J. Paediatr. Dent. 2008, 18, 40–47. [12] Young W., Khan F., Brandt R., Savage N., Razek A., Huang Q.: Syndromes with salivary dysfunction predispose to tooth wear: Case reports of congenital dysfunction of major salivary glands, Prader-Willi, congenital rubella, and Sjogren’s Syndromes. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod. 2001, 92, 38–48. [13] Gonzales L.C., Villa C.G., Cardenas A.C.: Prader-Willi Syndrome: Saliva quantification and culture in 10 patients. Med. Oral. Pathol. Oral. Bucal. 2008, 13, 774–777. [14] Glaros A.G., Melamed B.G.: Bruxism in children: Etiology and treatment. Appl. Prev. Psychol. 1992, 4, 191–199. [15] Męczekalski B., Czyżyk A., Warenik-Szymankiewicz A.: Rola genów w powstawaniu otyłości. Współczesne poglądy, patogeneza, aspekty kliniczne. Endokr. Otyłość Zaburz. Przem. Materii 2008, 5, 27–37. [16] Bartlett D.W., Shah P.: A critical review of non-carious cervical (wear) lesions and the role of abfraction, erosion and abrasion. J. Dent. Res. 2006, 85, 306–312. [17] Banks P.A., Bradley J.C., Smith A.: Prader-Willi Syndrome – a case report of the multidisciplinary management of the orofacial problems. Br. J. Orthod. 1996, 23, 299–304. [18] Schaedel R., Poole A.E., Cassidy S.B.: Cephalometric analysis of the Prader-Willi Syndrome. Am. J. Med. Genet. 1990, 36, 484–487. [19] Czystowska M., Skoczylas A., Rudnicka A., Kazanecka B., Pływaczewski R., Liwiński P., Górecka D.: Obturacyjny bezdech senny u pacjenta z zespołem Pradera-Willego. Pneumon. Alergol. Pol. 2010, 78, 2, 148–152. [20] Jankowska A.K., Waszkiel D., Kowalczyk A.: Ślina jako główny składnik ekosystemu jamy ustnej. Część I. Mechanizmy wydzielania i funkcje. Wiad. Lek. 2007, 60, 3–4, 148–154. [21] Pochwalski M., Wojtowicz A.: Suchość jamy ustnej – kserostomia – przyczyny, objawy, metody leczenia – przegląd piśmiennictwa. Nowa Stomatol. 2003, 4, 211–216. [22] Bots C.P., Schueler Y.T., Brand H.S., van Nieuw Amerongen A.: A patient with Prader-Willi Syndrome. Characteristics, oral consequences and treatment options. Ned Tijdschr Tandheelkd 2004, 111, 55–58. [23] Salako N.O., Ghafouri H.M.: Oral findings in a child with Prader-Labhart-Willi Syndrome. Quintessence Int. 1995, 26, 339–341. [24] Bazopoulou-Kyrkanidou E., Papagiannoulis L.: Prader-Willi Syndrome: report of a case with special emphasis on oral problems. J. Clin. Pediatr. Dent. 1992, 17, 37–40. [25] Greenwood R.E., Small I.C.: Case report of the Prader-Willi Syndrome. J. Clin. Periodontol. 1990, 17, 61–63. [26] Midro A.T., Olchowik B., Lebiedzińska A., Midro H.: To know more about the Prader-Willi Syndrome. Multidisciplinary support. Psychiatr. Pol. 2009, 43, 151–166 (article in Polish). Address for correspondence: Aneta Witt Department of Pediatric Dentistry, Institute of Dentistry The Medical University of Warsaw Miodowa 18 00-246 Warsaw Poland Tel.: +48 22 502 20 31 E-mail: [email protected] Received: 9.12.2010 Revised: 10.01.2011 Accpeted: 8.02.2011 Praca wpłynęła do Redakcji: 9.12.2010 r. Po recenzji: 10.01.2011 r. Zaakceptowano do druku: 8.02.2011 r.