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Prader-Willi Syndrome (PWS) is usually caused by a chromosomal aberration, i.e. a partial deletion of the long arm of the paternal chromo-some 15q11-q13. It occurs with an incidence be-tween 1 : 15,000 and 1 : 50,000 live births [1, 2].

The clinical picture of the syndrome is com-plex 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 signifi-cance. Major PWS criteria include neonatal hypo-tonia, feeding problems in infancy, characteristic facial features, excessive weight gain, hypogonad-ism, developmental delay and hyperfagia leading to obesity. Minor criteria include decreased fetal

CLINICAL CASE

Aneta Witt

1

, Dorota Olczak-Kowalczyk

1

, Maria Ginalska-Malinowska

2

,

Małgorzata Zadurska

3

Oral Findings in Prader-Willi Syndrome – Case Report

Zmiany w jamie ustnej w zespole Pradera-Willego – opis przypadku

1 Department of Pediatric Dentistry, Institute of Dentistry, The Medical University of Warsaw, Poland 2 Department of Endocrinology, The Children’s Memorial Health Institute, Warsaw, Poland

3 Department of Orthodontics, Institute of Dentistry, The Medical University of Warsaw, Poland

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 aberra-cją chromosomalną – częściową deleaberra-cją 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 śluzo-wej 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.

Dent. Med. Probl. 2011, 48, 1, 103–107

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disturbances, short stature, hypopigmentation of the skin and hair, small hands and diminished se-cretion of thick and sticky saliva. Supportive find-ings 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 sus-picion of a diagnosis of PWS depend on the age of the patient. In infants the most characteristic feature is unexplained hypotonia and poor suck-ing 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, ge-netic testing should be considered in adolescents and adults with a less marked phenotype but with behavioral problems in addition to obesity and hy-pothalamic hypogonadism [8].

Reports on experiences evaluating patients with PWS have frequently shown not only a de-creased quantity of saliva with a thick consistency, but also a reduced resting saliva pH and a dimin-ished buffer capacity, which, associated with fre-quent meals and neglected prophylactic measures, contributes to the development of dental car-ies [9–13]. Unfavorably altered physical and chem-ical saliva parameters may also entail an increased risk of enamel erosion. The authors’ clinical expe-rience shows that emotional disorders, particular-ly 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, tem-per outbursts and mental retardation render pre-ventive and therapeutic management difficult.

The aim of the present study was to report the results of several months’ evaluation and treat-ment 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 den-tal 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).

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 sac-charose 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 adult-type swallowing (Fig. 1).

Intraoral examination revealed dental calcu-lus, gingivitis, erythematous lesions of the oral mucosa, lower lip ulceration, multiple carious le-sions of varying severity at the necks of all the teeth and on the masticatory surfaces of the max-illary 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 colo-nies 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 Sali-va-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 thera-peutic management as well as orthodontic assess-ment were initiated.

The treatment started with scaling and topical management of the mucosal lesions (Octanidol, Solcoseryl adhesive paste). Dietetic and prophylac-tic 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 fol-low-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.

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Cepha-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 at-tempt at treatment was undertaken; the boy was

scheduled for another orthodontic management session. Tooth Mousse topical dental cream was recommended in combination with the conserva-tive treatment. Moreover, a temporary soft occlu-sal splint was offered, but the patient refused to undergo the procedure. The boy’s mother admit-ted that the treatment had been discontinued due to the patient’s primary dentist having been absent

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. 2. Self-induced cutaneous lesions caused by com-pulsive picking

Ryc. 2. Uszkodzenia skóry spowodowane nawykowym skubaniem

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. 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

Ryc. 4b. Choroba próchnicowa i atrycje zębów, ksero-stomia częściowa oraz zapalenie dziąseł u chłopca z PWS

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turned.

Discussion

Providing oral health care for children with Prader-Willi Syndrome – particularly teenag-ers – 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 person-nel. 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 expres-sion. 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 chil-dren 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 pre-vented the boy from sneaking food. Apart from his emotional state, occlusal abnormalities undoubt-edly 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 treat-ment in patients with Prader-Willi Syndrome [19]. In the case presented, however, severe emotional

ability of the oral cavity, increase the risk of mu-cosal diseases, dental caries and erosion [20, 21]. These types of abnormality may also result in diffi-culty in using orthodontic appliances and contrib-ute 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 dis-ease [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 be-havioral disorders – connected with frequent sugar intake promotes the presence of severe dental car-ies, gingivitis and oral mucosa diseases [5, 22, 25]. In the case presented, dental calculus, gingivitis, oral candidosis and lower lip ulceration with a sec-ondary bacterial infection was detected.

Due to the medical complexity, specific be-havioral aspects (stubbornness, hyperactivity, ag-gressiveness) and the presence of many risk factors for diseases of th oral cavity, providing successful oral health care to patients with PWS is very dif-ficult [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.

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[14] Bruxism in children: Etiology and treatment. Appl. Prev. Psychol. 1992, 4, 191–199. Męczekalski B., Czyżyk A., Warenik-Szymankiewicz A.:

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[20] Ślina jako główny składnik ekosystemu jamy ustnej. Część I. Mechanizmy wydzielania i funkcje. Wiad. Lek. 2007, 60, 3–4, 148–154.

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Characteristics, oral consequences and treatment options. Ned Tijdschr Tandheelkd 2004, 111, 55–58. Salako N.O., Ghafouri H.M.:

[23] Oral findings in a child with Prader-Labhart-Willi Syndrome. Quintessence Int. 1995, 26, 339–341.

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[25] Case report of the Prader-Willi Syndrome. J. Clin. Periodontol. 1990, 17, 61–63. Midro A.T., Olchowik B., Lebiedzińska A., Midro H.:

[26] 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: pedodoncja@wum.edu.pl 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.

Figure

Fig. 2. Self-induced cutaneous lesions caused by com- com-pulsive picking

References

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