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
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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-
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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
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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.
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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.