ORAL FINDINGS IN DANDY–WALKER SYNDROME

CASE HISTORY REPORT ABSTRACT Dandy–Walker syndrome (DWS) is ­congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa, and hydrocephalus. In addition to various other complications, cleft lip/ palate, facial retrognathia, a high-arched palate, and maldentition occur at an increased frequency in patients with DWS. However, few studies have reported the dental manifestations of DWS. Herein, we report the clinical manifestations, oral findings, and dental management of a DWS patient who was treated under general anesthesia. Poor oral hygiene, gingivitis, and several ­congenital dental abnormalities (e.g., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS. Our findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS.

KEY WORDS: Dandy–Walker ­syndrome, caries, microdontia

Oral findings and dental treatment in a patient with Dandy–Walker syndrome: a case report Yasuka Kusumoto, DDS, PhD; Osamu Shinozuka, DDS, PhD* Section of Dentistry for Persons with Disabilities, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. *Corresponding author e-mail: [email protected] Spec Care Dentist 34(3): 151-155, 2014

Introd uct ion

Dandy–Walker syndrome (DWS) is a congenital disease characterized by hypoplasia of the cerebellum and the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa and hydrocephalus.1–7 The syndrome was first described by Dandy and Blackfan in 1914,8 and the designation DWS was introduced by Benda.9 The syndrome occurs in one out of 30,000 infants10 and has an unknown cause. However, a number of studies report that various chromosomal abnormalities are associated with DWS. Chitayat et al.11 have summarized the various single gene disorders, chromosomal aberrations, teratogen-induced conditions, and other disorders associated with Dandy–Walker malformations. Recently, a number of DWS cases were reported to potentially result from trisomy and partial trisomy, including trisomy 18.12–15

DWS encompasses a wide range of findings anatomically and clinically. Clinical manifestations are often evident from infancy and include delayed motor development, nystagmus, spasmus, ­titubation, and apnea. Hydrocephalus is not usually present at birth but is ­present in about 90% of affected patients at diagnosis.16–18 Associated congenital anomalies include hypertelorism and ­cardiac,5 renal, and skeletal malformations, including syndactyly, polydactyly, and limb and vertebral abnormalities.3 In regards to craniofacial abnormalities, the frequency of cleft lip/palate,3,5,12,17,19–22 high-arched palate,11 retrognathia,22 ­maldentition,23 and low-set, poorly ­lobulated ears appear to occur more commonly in patients with DWS.24,25 However, no previous studies have reported on the dental manifestations and management of DWS.

© 2013 Special Care Dentistry Association and Wiley Periodicals, Inc. DOI: 10.1111/scd.12044

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The purpose of this report was to present the clinical manifestations, oral findings, and dental management of a patient with DWS treated under general anesthesia.

C a s e d es cr ip t io n Clinical findings A female who was 15 years and 5 months old visited the Special Care Clinic, Dental Hospital, Tokyo Medical and Dental University, Tokyo, Japan. Consent was subsequently obtained from the ­parents of the patient for the case report to be published. The chief complaint was dental caries. She had been diagnosed with DWS and cystic dilatation of the forth ventricle and lateral ventricles. She had hypoplasia of the cerebellar vermis, agenesis of the posterior corpus

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Figure 1. Photographs showing the facial appearance of the patient.

callosum, polydactyly, and funnel breast. She had been born at the 34th gestational week with a birth weight of 1,568 g. There was no particular family history. The patient had a history of ventricular septal defects, severe mental retardation, sleep apnea, an allergy to eggs, atopic dermatitis, and anal atresia. The extraoral findings were blepharophimosis, saddle nose, and a lack of lip seal. The face ­presented with mid-face hypoplasia and a short anteverted nose (Figure 1). Clinical examinations of the teeth and oral cavity were performed, and radiographs of the oblique lateral projection were taken. At the first visit, the intraoral examinations revealed poor oral hygiene (Figure 2). However, the salivary flow was only slightly decreased relative to that of a healthy subject, and the c­ onsistency of the saliva was normal. An enlargement of the palatal gingiva was observed over the palatal shelves leaving a midline space. The teeth present were the permanent maxillary and mandibular central and lateral incisors, canines, first and second premolars, and first molars, and the mandibular right second molar. The tooth germ of a permanent maxillary right second molar was ­missing (Figure 3). The two ­permanent maxillary incisors were shovelshaped, and the two permanent maxillary lateral incisors and the mandibular right incisor were in l­inguoversion. The permanent maxillary left lateral incisor was a conical tooth. Prolonged retention of the

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primary ­maxillary right second molar and maxillary left canine was observed (Figure 4), while pyramidal taurodontism was found in the permanent mandibular first molar (Figure 3). Dental caries were diagnosed in almost all of the molars. Incipient caries with white patches were shown in the anterior teeth. Mild marginal gingivitis was present around the erupted teeth. The decision was made to have the patient undergo a comprehensive dental evaluation and treatment under general anesthesia. Routine blood investigations, electrocardiographic evaluations, and chest X-rays disclosed no abnormal findings of special note.

Figure 2. Dental caries were diagnosed in almost all of the molars. Incipient caries with white patches were present in the anterior teeth. Mild marginal gingivitis was present around the erupted teeth.

Management After induction with sevoflurane, atropine and thiamiral were given. Assisted and controlled ventilation was made simple by a small mask, and endotracheal intubation was undertaken with vecuronium as a muscle relaxant. The trachea was easy to intubate with a standard laryngoscopic technique, and anesthesia was maintained with oxygensevoflurane. Vital signs were stable during the operation. Fifteen carious permanent teeth were restored with light-cured composite resin, whereas the deciduous maxillary left canine was extracted. At the end of the operation, the return to spontaneous breathing was smooth, and the endotracheal tube was extubated. After all

monitors were turned off, she started becoming cyanotic, and endotracheal intubation was performed again. The patient’s oxygen saturation remained at 87–95%. After the operation, she was diagnosed with pneumonia by a ­pediatrician and medicated. The patient continues to return to the clinic for regular dental care with continuous respiratory monitoring using a pulse oximeter. At a 15-month followup, the patient’s oral condition had significantly improved. The soft tissue was within normal limits.

Dental analysis Measurements of arch length, arch circumference, and tooth width were made

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in the maxilla and mandible. The coronal arch width of the maxilla fell below the −1 SD level, while the mandible fell down below the −3 SD level. Moreover, the coronal arch length of the maxilla (maxillary arch length) fell below the − 2 SD level. In this case, the width of almost all teeth was smaller than the Japanese standards suggested by Otsubo.

D is cus s ion Figure 3. Radiographs of the oblique lateral projections. The tooth germ of the second molar of the right side was missing.

Figure 4. Casts of the dentition were made from impressions. Measurements of arch length, arch circumference, and tooth width were made on the plaster casts according to the methods described by Otsubo.

on plaster casts according to the methods described by Otsubo26 (Figure 5). Except for the maxillary incisors, canines, and mandibular second premolars, all measurements were below the mean. In some cases, the measurements, especially those for the maxillary lateral incisors, fell

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below the −2 standard deviation (SD) level, while the first molars fell below the −3 SD level, as compared to the Japanese standards suggested by Otsubo. The mandibular central incisors, first premolars, and first molars fell below the −1 SD level. The teeth fell below the −1 SD level

Few studies have reported on dental manifestations in DWS. This report is the first one to describe the oral findings and dental treatment in a patient with DWS. Our study findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS. DWS is characterized by a variety of complications, including deformation of the central nervous system. Among the cerebral anomalies is agenesis of the corpus callosum, which may lead to ­respiratory failure, including apneustic breathing.27,28 As such, respiratory failure or convulsions may occur ­postoperatively. Hence, observation in the intensive care unit is essential. As well, careful evaluation of the airway is important in the management of DWS.27 In this case, during the preoperative exploration by the anesthetist the day before the operation, the patient had a nasal discharge. The upper respiratory disease could have affected her lungs. However, because she had chronic ­allergic conditions, the condition could not be differentiated from an infection attributed to a virus or bacteria. In terms of the association of facial and cardiovascular anomalies in DWS, Hirsh29 hypothesized that the onset of the malformation occurs between the formation and migration of the cells of the neural crest. In the present case, a high-arched palate was not observed. However, the maxillary lateral incisors and mandibular right incisors were in linguoversion. Moreover, the coronal arch width of the mandible fell down below the −3 SD level. Our experience is in agreement with the studies of Ewart et al.27, which reports the occurrence of micrognathia in DWS patients. The

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Figure 5. Results of the measurements of arch length, arch circumference, and tooth width in the patient. The findings are represented as dotted lines, as developed by Otsubo, and have been plotted on histograms showing the normal averages ± 2 SD.

shovel-shaped incisors observed in this patient are a racial characteristic and not a characteristic of DWS. Nicole et al.22 reported that poor sucking reflex and a failure to thrive made prolonged tube feeding necessary. In this case, the patient continued tube feeding through the age of 9. At the ­present time, the patient feeds chiefly on pureed food and liquid nutrition. Because of maldentition, dysphagia, and dysfunctional feeding, she is at high risk of developing dental caries and gingivitis. In this case, the salivary flow was only slightly decreased, while the consistency of the saliva was normal. However, because of the lack of a lip seal, she is likely a mouth breather. If so, she will have the tendency of a dry mouth. The enlargement of the palatal gingiva may be due to mouth breathing, and high incidence of caries may result from the poor oral hygiene and mouth breathing.

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Here oral health condition must be improved by a multidisciplinary team. The patient is currently receiving monthly follow-up care. In conclusion, this is a single case report of a female with a medical history of DWS. This case documents novel dental findings, poor oral hygiene, ­gingivitis, and congenital dental ­abnormalities, including generalized microdontia, conical tooth, transposition, and congenitally missing teeth. Instructions for the caregiver and an effective preventive oral regimen, together with regular professional ­monitoring, are crucial for maintaining the long-term oral health of affected ­individuals.

D is cl os ur es

The authors report no conflicts of ­interests.

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Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report.

Dandy-Walker syndrome (DWS) is congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the four...
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