OLGU RAPORU (Case Report)

ABSTRACT ÖZET

Cockayne sendromu; bebek ve çocuklarda gelişme geriliği ve mental retardasyon ile seyreden, otozomal resesif geçişli, nadir görülen bir sendromdur. Multisistemik sorunlar yanısıra kusma nedeniyle yaygın çürükleri olan bu oguların diş tedavileri dikkatli bir değerlendirme sonrası sedasyon altında yapılmalıdır.Anesteziye ait başlıca sorunlar havayolu açıklığının sürüdürülmesinde güçlük ve gastrik aspirasyon riskinin artmasıdır.Cockayne sendromlu olgunun sedasyon altında uygulanan diş tedavisi sunulmuştur.

Cockayne’s syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child. After precise examination, dental treatment of cases having rampant caries due to vomiting in addition to multisystemic complications should be carried out under sedation. Problems with airway management and an increased risk of gastric aspiration are the main anaesthetic concerns. Dental treatment applied under sedation to a patient with Cockayne syndrome is described.

Hacettepe Dişhekimliği Fakültesi DergisiCilt: 31, Sayı: 4, Sayfa: 36-40, 2007

A Treatment with Sedation in Cockayne’s Syndrome

Cockayne Sendromlu Olgunun Sedasyon Altında Tedavisi

*Özgül Baygın DDS, *Haluk BODUR DDS PhD, **Berrin IŞIK MD

* Gazi University Faculty of Dentistry Department of Pediatric Dentistry** Gazi University Faculty of Dentistry Anaesthesiology and Reanimation Specialist in Department of Oral and Maxillofacial Surgery

KEYWORDS

Cockayne sendromu, Çocuk diş hekimliği, Sedasyon

ANAHTAR KELİMELER

Cockayne’s syndrome, Paediatric dentistry, Sedation

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INTRODUCTION

Cockayne Syndrome (CS) is an autosomal recessive, genetic disorder characterized with multisystem involvement, progressive and in-tense neurological impairment described by Cockayne in 19361,2. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of 1 year. An early onset or congenital form of Cockayne syndrome (Type II) is appa-rent at birth. Manifestations of CS are including heterogeneous, possibly multiple genetic and bi-ochemical defects3. This syndrome occurs with a frequency of 1/100.000 in live births and can be caused by mutations of two genes, the Coc-kayne Syndrome Type I (CKN1) or Excision-Re-pair Cross- Complementing Group 8 (ERCC8) and the Excision-Repair Cross-Complementing Group 6 (ERCC6), located on chromosomes 5 and 10q11 respectively4. Some of the most com-mon somatic and clinical features are growth failure after a normal delivery, microcephaly, facial dysmorphism, mental retardation, neuro-development and later neurological dysfunctions, cutaneous photosensitivity of the skin including pigmentary retinopathy, neurosensory hearing loss, dental caries, hypertension, atherosclerosis and renal disease5, whereas these characteristic appearances have been seen is called “charac-teristic dwarfism”6. Patients have a characteris-tic bird-like face caused by loss of subcutaneous fat, especially over the cheeks. Enophthalmos, a beak-like nose and large ears are the other clini-cal findings4. A few patients have survived for up to 20 years, death usually occurs before the age of 12 years2. The usual oral findings are delayed deciduous teeth eruption, congenital absence of some permanent teeth, partial macrodontia prin-cipally of the central incisors, dental hypoplasia, short roots, more incidence of caries, a deep plate, atrophy of the alveolar processes, mandi-bular prognathism and condylar hypoplasia4,7,8.

Since rampant caries is a source of infection in addition to adverse effects on nutrition, dental treatment is necessary in such cases. Because

of the multisystemic anomalies, dental treatment of CS cases are suggested under general anest-hesia or sedation techniques with close observa-tion1,2,9. In this report we aimed to present the dental treatment planning of a CS case, aspects and clinical implications of the dental treatment planning in view of literature findings.

CASE REPORT

In this case report we present a 7-year-old patient. He had a height of 82 cm, weight of 7.1 kg, head circumference of 26 cm and blood pressure of 110/ 85 mm/Hg. The patient had a full term perinatal problems. At the age of 36 months he was diagnosed as having CS. He ap-peared to have cachectic habitus, hyphosis, sun-ken eyes, a thin and beaklike nose, lack of sub-cutaneous cheeks fat and large ears, giving the patient a “birdlike” appearance. He had motor and mental retardation. Other physical findings include thin atrophic hyperpigmented skin with sensitivity to sunlight, limitation of joint mobility of the legs and lower back, scoliosis, decreased sweating and tearing, sparse hair, low set ears, cool hands and feet and sometimes cyanotic, ca-taracts and premature calcifications especially of the central nervous system but not renal disease. He had a history of nasogastric feeding, and re-gurgitation or vomiting after meals. In the oral cavity examination we found dry mucosa, deeply arched palate, deficient hygiene and gingivitis. Eruption of 31, 41 teeth were total, while 11 and 21 teeth were partial. Teeth rotation of 11 and 21, macrodontia of 11, 21, 31 and 41 teeth were observed. The 55, 54, 53, 52, 62, 63, 64, 65, 72, 73, 74, 75, 82, 83, 84, 85 had caries, 36 and 46 teeth had hypoplasia. In addition to man-dibular and condylar hypoplasia, atrophy of the alveolar processes were detected (Figure 1, 2). Health histories were reviewed, and American Society of Anesthesiologists (ASA) status was as-signed (ASA III) (Table I). In case of respiratory depression, blood vessel access equipment, ora-tracheal entubation devices and laryngeal mask were ready to use. Midazolam (Dormicum®) was

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administered orally, dosed at 0.3 mg/kg per ap-pointment. Nitrous-oxide/oxygen (N2O/O2) was administered by means of a nasal hood and tit-rated to the level that would allow completion of treatment and child cooperation. The N2O gas mixer was set up to limit a gas flow to no higher than a maximum N2O concentration of 30%. In this case, recorded vital signs included hearth rate (HR), oxygen saturation (SpO2), systolic and diastolic blood pressure (SBP/DBP), and electro-cardiography as determined by pulse oximetry,

noninvasive blood pressure monitoring, and ele-ctrocardiography (ECG) (Figure 3). The sedation plane was reviewed by Ramsay Sedation Scale (RSS) 10. Since all of the primary incisors were non-restorable due to rampant caries, 51, 52, 62, 73, 74, 75 teeth were extracted with local anaesthesia. Vital sign recordings are presented in Table II. Length of treatment lasted 30 mi-nutes, and sedation level was 3-4 according to RSS. The patient was still fed with the bottle. The parents were adviced to brush his teeth twi-ce daily and consume fluoride supplements. The patient came to appointment after 6 months (Fi-gure 4,5).

FIGURE 1

Clinical appearance

TABLE I

ASA Physical Status Classification System

Classification Clinical status

I A normal healthy patient

II A patient with mild systemic disease

III A patient with severe systemic disease

IVA patient with severe systemic disease

that is a constant threat to life

VA moribund patient who is not expected

to survive without the operation

VIA declared brain-dead patient whose organs are being removed for donor

purposes

FIGURE 2

Intra oral appearance

FIGURE 3

Under sedation

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DISCUSSION

In patients with CS, certain preoperative in-vestigations are necessary. Since renal disease is associated with this syndrome, assays of plasma potassium and renal function tests would have been useful to determine the level of renal dys-function. Further, because CS is associated with hypertansion and atherosclerosis, an ECG may reveal any existing ischemia1. Our patient’s mean blood pressure was 112.3/59 mmHg, which was the normal value. This data was important as it reflected the patient’s general health4,11. The sys-tolic and diastolic blood pressure in a 9 year-old child should be approximately 97-112/57-71 mmHg. The episodes of hypertension that oc-curred in this patient were not extremely high-level accordingly this blood pressure. In order to eliminate the effect of anxiety on blood pressu-re, we prescribed midazolam as anxiolytic and sedative premedications1. Orally administered sedatives are well accepted by children and are usually perceived as not threatening. Oral seda-tion is complicated by variable absorption and the inability to titrate the dose to the desired effect, characteristics that may produce unpre-dictable levels of sedation. Benzodiazepines are a commonly used class of sedative agents. Mi-dazolam, a newer-generation benzodiazepine, has a wide toxic/therapeutic ratio and margin of safety and does not produce the prolonged sedation associated with other benzodiazepines

such as diazepam12. Midazolam has been shown to enhance anterograde amnesia when used pre-operatively in pediatric patients13. Despite the wi-despread acceptance of N2O and the increasing usage of oral midazolam in pediatric dentistry, little has been reported on the overall safety of these agents in the pediatric dental patient po-pulation. Nitrous oxide is widely used because of its provision of a significant analgesic effect with minimal respiratory depression at concen-trations less than %5014. Recognized adverse re-actions such as nausea and vomiting have been reported,13 but Houck and Ripa15 suggest that children have a natural tendency to vomit easily that is unrelated to eating before treatment, con-centration of N2O, or duration of the sedative procedure. This suggests that the incidence of vomiting can be predicted by a history of hyper emesis, which should be noted in the medical

FIGURE 4

Intra oral appearance after 6 months

FIGURE 5

Under sedation

TABLE II

Data of vital signs

Vital Sign Initial Midtreatment Final

Heart rate (bpm) 78 79 78

Oxygen saturation (%) 94 93 96

Systolic blood pressure (mmHg)

114 110 113

Diastolic blood pressure (mmHg)

60 59 58

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history. In this case, we did not observe nausea or vomiting in patient receiving midazolam and N2O. Nitrous oxide has been reported to cause a decrease in both systolic and diastolic blood pressure16. In this case, both systolic and diastolic blood pressures were observed to remain stab-le throughout procedures performed under the conditions described. In CS, the most common anesthetic problem encountered has been diffi-cult orotracheal entubation because of a small mandible, small mouth with relatively large teeth, limited temporomandibular joint movements, or subglottic stenosis. There were no cardiovascu-ler and respiratory problems during the sedation and post sedation period. Concerning CS, there have been some reports of difficult airway, lar-yngospasm, aspiration of gastric contents and others. It is important to prevent respiratory fai-lure by keeping the adequate depth of sedation9.

This case confirms the findings of a high arched palate but did not demonstrate any crowding. This patient was in the full primary dentition rather than the mixed dentition where crowding was reported6. In 1987 Cantani and coworkers reviewed 129 cases of CS, having 38.4% cari-ous teeth and 22.4% prognatism. There was no mention of any ethnic breakdown on these pa-tients6,10. The case of a 9-year-old white female that Cook17 reported had a retruded mandibular position similar to like this case presented. The dentistry community should look for signs and symptoms in the oral cavity in order to diagnose the development of the syndrome and provide adequate treatment4. Being autosomal recessive, CS is a serious disease causing death at early years of life. After precise examination, dental treatments of cases having rampant caries due to vomiting in addition to multisystemic compli-cations should be carried out under sedation by multidisciplinary approaches.

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CORRESPONDING ADDRESS

Özgül BAYGIN DDSGazi University Faculty of Dentistry Department of Pediatric Dentistry 06510 Emek-Ankara/TURKEY

Tlf: 0 312 203 40 89 Fax: 0 312 212 86 52 E-mail: dtozgul@yahoo.com

Geliş Tarihi : 07.05.2007 Received Date: 07 May 2007 Kabul Tarihi : 22.09.2007 Accepted Date: 22 September 2007