|Year : 2022 | Volume
| Issue : 1 | Page : 45-49
Anaesthetic management of a child with Beckwith-Wiedemann syndrome posted for tongue reduction surgery - A case report and review of literature
Reena1, Abhinay Jayanthi1, Amrita Rath1, Vineet Mishra2, Ashutosh Vikram3
1 Department of Anaesthesiology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India
2 Department of Anaesthesiology, Heritage Institute of Medical Sciences, Varanasi, Uttar Pradesh, India
3 Department of Orthopaedics, Narayan Medical College and Hospital, Sasaram, Bihar, India
|Date of Submission||27-Oct-2021|
|Date of Acceptance||22-Nov-2021|
|Date of Web Publication||17-Jan-2022|
Department of Anaesthesiology, Institute of Medical Sciences, BHU, Varanasi - 221 005, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth syndrome. Affected children require surgeries for various reasons such as correction of macroglossia, abdominal wall defects, cleft palate or neoplasms. Anaesthesiologists often face problems in the form of a difficult airway, associated congenital heart disease causing haemodynamic compromise and hypoglycaemia, especially during the neonatal period. We discuss the management of a child with BWS scheduled to undergo tongue reduction surgery for macroglossia.
Keywords: Beckwith-Wiedemann syndrome, difficult airway, exomphalos macroglossia gigantism syndrome, macroglossia
|How to cite this article:|
Reena, Jayanthi A, Rath A, Mishra V, Vikram A. Anaesthetic management of a child with Beckwith-Wiedemann syndrome posted for tongue reduction surgery - A case report and review of literature. Airway 2022;5:45-9
|How to cite this URL:|
Reena, Jayanthi A, Rath A, Mishra V, Vikram A. Anaesthetic management of a child with Beckwith-Wiedemann syndrome posted for tongue reduction surgery - A case report and review of literature. Airway [serial online] 2022 [cited 2022 Dec 5];5:45-9. Available from: https://www.arwy.org/text.asp?2022/5/1/45/335895
| Introduction|| |
Beckwith-Wiedemann syndrome (BWS), classically referred to as exomphalos macroglossia gigantism syndrome, has a prevalence of 1 in 12,000. While the majority of cases are sporadic (85%), familial forms account for 15%. A variety of genetic or epigenetic dysregulation of genes on chromosome 11p15.5 have been associated with BWS. The diagnosis is mainly clinical. It is generally accepted that the presence of at least three major findings, or two major findings and one minor finding support a clinical diagnosis. Major clinical findings include abdominal wall defect (omphalocele or umbilical hernia), macroglossia, macrosomia, visceromegaly of intra-abdominal organs, embryonal tumour in childhood, hemihyperplasia, family history of BWS and cleft palate. Minor findings include polyhydramnios, enlarged placenta and/or thickened umbilical cord, premature labour, neonatal hypoglycaemia, naevus flammeus, structural cardiac anomalies and cardiomyopathy. Anaesthesiologists managing children with BWS face problems such as a difficult airway, haemodynamic derangements due to associated cardiovascular anomalies and hypoglycaemic episodes due to hyperinsulinism. We present a child with BWS posted for tongue reduction surgery laying emphasis on anaesthetic implications of BWS.
| Case Report|| |
A 7-year-old boy weighing 26 kg presented with enlargement of the tongue since birth (severe enlargement over the past 2 years) [Figure 1] and progressive difficulty in ingesting semisolid food. Preoperative examination revealed an anxious, embarrassed and apprehensive child who was unable to speak clearly. There was no history of respiratory difficulty or bleeding from the tongue. A good rapport was developed with the child and his parents. They were explained the need for surgery and what to expect in the operating room.
Local examination revealed a diffusely enlarged tongue protruding out of the mouth. Naevi were present over the dorsum of tongue [Figure 1]. The orodental hygiene was poor and the lower teeth were completely covered by the swollen tongue. Mouth opening, interincisor gap and Mallampati grading could not be evaluated due to the enlarged tongue. On palpation, the tongue was tender and firm in consistency. There were multiple, small, nodular neck swellings. The spine was asymmetrical (kyphoscoliosis with rightward convexity seen on chest X-ray) suggesting hemihyperplasia [Figure 2]. Multiple naevi were seen over the tongue and also over the back, body and neck [Figure 1] and [Figure 2]. Congenital cardiovascular abnormalities were ruled out by normal exercise tolerance, absence of significant murmurs, and normal electrocardiogram and 2-D echocardiogram. A clinical diagnosis of BWS was made on the basis of the presence of two major findings (macroglossia and hemihyperplasia) and one minor finding, naevus flammeus.
|Figure 2: Asymmetric back of patient showing naevi flammeus and chest X-ray showing kyphoscoliosis|
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Preoperative tests showed a haemoglobin level of 10.8 g/dL (haematocrit of 30%) with normal serum electrolytes, renal and liver function tests. Neck x-rays (anteroposterior and lateral views) done to assess upper airway patency showed gross narrowing of the oropharyngeal air space with a centrally-placed patent trachea. Abdominal ultrasound was normal. The child was posted for V-glossoplasty. Children with BWS have a larger trachea in comparison to normal children of their age group. Choosing a smaller size tube that would pass atraumatically through the nose could possibly result in a loss of tidal volume due to the relatively larger trachea. Fibreoptic orotracheal intubation was therefore planned and a 5.5 mm ID cuffed endotracheal tube (ETT) was used. Consent was obtained for tracheostomy and postoperative elective ventilation.
Intravenous midazolam 0.5 mg, glycopyrrolate 0.1 mg and fentanyl 20 μg were given before shifting to the operating room as a part of supervised premedication in an apprehensive child. Monitoring was initiated with electrocardiogram, noninvasive blood pressure and pulse oximeter. All equipment for an anticipated difficult ventilation and intubation (including tracheostomy) were kept ready. Our otorhinolaryngology colleagues were requested to standby should the need for a tracheostomy arise. The child was placed supine in the sniffing position. Preoxygenation was initiated using a large # 4 size anatomical facemask. Since the patient was too young for an awake intubation, we started inhalational induction with sevoflurane and maintained spontaneous respiration. A well lubricated 5 mm ID nasopharyngeal airway was inserted through the right nostril and connected to the Jackson-Rees circuit. A mixture of sevoflurane in oxygen was continuously administered through the nasopharyngeal airway with the patient breathing spontaneously. A 4.5 mm OD fibreoptic scope preloaded with a 5.5 mm ID cuffed ETT introduced into the oral cavity could not be manipulated easily due to the enlarged tongue. However, once the glottis was visualised, the ETT was guided under vision into the trachea. The postintubation clinical photograph is shown in [Figure 3] (a). Anaesthesia was maintained with sevoflurane in oxygen:nitrous oxide (50:50) and the child paralysed with vecuronium after confirming bilateral air entry. Intravenous hydrocortisone 4 mg/kg was given intraoperatively to prevent development of tongue oedema.
|Figure 3: (a) Postintubation and (b) End of surgery after tongue reduction|
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An inverted V-shaped portion of the tongue was removed from the anterior half of the tongue and the tongue sutured in the midline to give it normal shape. The surgery lasted for 2 h and the blood loss was approximately 150 mL. The clinical photograph following tongue reduction is shown in [Figure 3] (b). At the end of surgery, the child was shifted to the postanaesthesia care unit and electively ventilated for the next 24 h with head elevated at 30° to 45° to avoid complications due to tongue oedema. Intravenous hydrocortisone was also started on the table in a dose of 4 mg/kg and continued at 4 mg/kg for the next 24 h. The child was extubated after 24 h of elective ventilation once criteria for extubation had been met. The infusion of midazolam and fentanyl was stopped 2 h before planned extubation. There was no residual tongue swelling. The patient was given a T-piece trial for 30 min where he was assessed for maintaining adequate cardiorespiratory parameters, adequate neuromuscular recovery and central nervous system function. The child was able to follow commands with head-lifting for more than 5 sec. A 14 Fr airway exchange catheter (AEC) was introduced through the ETT and after thorough oropharyngeal suctioning, the ETT was removed over the AEC. The AEC was removed after ensuring the adequate maintenance of the airway and oxygen saturation. The patient was then administered oxygen at 5 litres per minute using simple oxygen mask and monitored for any adverse events.
Following extubation, he maintained his vitals and arterial oxygen saturation within the normal limits without any support. Postoperatively, we continued hydrocortisone at 4 mg/kg for another 24 h. It was then tapered to 2 mg/kg for 2 days and 1 mg/kg for the next 2 days before completely stopping it. The patient was put on liquid diet for next 48 h and good oral hygiene maintained with chlorhexidine mouthwash after meals.
The postoperative period was uneventful and the patient was discharged on the 7th postoperative day. The child was followed up for another 6 months and showed significant morphological and functional improvement.
| Discussion|| |
Beckwith (1963) first described this condition in three necropsy cases with macroglossia, omphalocele and visceromegaly. Wiedemann (1964) added two more cases in living children with 2 additional features of severe hypoglycaemia and postnatal gigantism., We summarise below some of the clinical findings of BWS and their anaesthetic implications.
Macroglossia is the most consistent finding in 95% of children with BWS. It may be so severe as to require early glossectomy or tracheostomy to prevent severe airway obstruction. Chronic airway obstruction can lead to the development of pulmonary hypertension and cor pulmonale. Macroglossia interferes with feeding, swallowing, speech and dental development. As the child grows, the tongue gets accommodated due to enlargement of the oral cavity, and posterior and inferior displacement of the hyoid bone. However, our patient had a disproportionately enlarged tongue even at his current age. Premedication outside the operating complex should be avoided, as also intravenous induction, as sudden severe airway obstruction can result from falling back of the tongue. Awake fibreoptic intubation is the gold standard, but in a combative child, inhalational induction with sevoflurane offers adequate depth of anaesthesia while preserving spontaneous respiration. A nasopharyngeal airway is a useful adjunct which can be connected to the anaesthesia circuit during preoxygenation and inhalational induction with spontaneous respiration in case even a larger-size mask is difficult to use. Postoperative tongue oedema can cause airway obstruction. It is better to electively ventilate the patient for 24 h postoperatively and extubate once extubation criteria are met.
Abdominal wall defects
Children with BWS often present for surgical repair of exomphalos or other abdominal wall defects. Surgical correction is needed early in life. Increased intra-abdominal pressure after repair of exomphalos and visceromegaly may shift the diaphragm upward, reducing functional residual capacity.
Gigantism and hemihyperplasia
BWS is an overgrowth syndrome and may be associated with both prenatal and postnatal gigantism. Sometimes hemihypertrophy of a part of the body is seen. In our patient, hypertrophy of one side of the torso led to kyphoscoliosis. While gigantism is known to cause a difficult airway, kyphoscoliosis leads to difficulty in neuraxial blockade when indicated.
Severe, persistent and difficult-to-treat hypoglycemia caused by islet cell hyperplasia and hyperinsulinemia usually presents on the 2nd or 3rd day of life., Prompt diagnosis and treatment is necessary to prevent permanent neurological damage causing seizures and mental retardation. BWS patients undergoing major surgeries need frequent blood sugar monitoring and dextrose replacement, especially in the neonatal period. Hypoglycaemia usually subsides spontaneously after 4 months of age. Persistent and recalcitrant hypoglycaemia may require partial pancreatectomy.
Intra-abdominal visceromegaly may shift the diaphragm upward and reduce functional residual capacity. Kimura et al. have suggested using cuffed ETTs as they found that the trachea in these patients was larger than predicted for their age and height. Choosing a cuffed ETT in the first instance would avoid unnecessary change of tubes while trying to achieve a leak-proof airway.
Cardiac malformations are found in 20% of children with BWS; approximately half manifest cardiomegaly that resolves spontaneously by 6 months of age., Cardiomyopathy is rare. Corrective surgeries for congenital cardiac lesions requiring cardiopulmonary bypass pose significant anaesthetic challenges in these patients in the form of extraordinary circulatory and haemodynamic alterations.
Children with BWS have an overall risk of 7.5% to develop embryonal tumours (Wilms tumour, hepatoblastoma, rhabdomyosarcoma, adrenocortical carcinoma and neuroblastoma) which usually manifest around 8–10 years of age., Anaesthetic considerations include prolonged surgery, massive blood loss, coagulopathy, hypothermia, and acid-base and electrolyte derangements.
BWS also increases the risk of prematurity by 50% with its associated complications.
| Conclusion|| |
Children with BWS can present problems even to the most experienced paediatric anaesthesiologist due to the presence of difficult airway, cardiac anomalies, hypoglycaemia, neoplasms and prematurity. Detailed knowledge, planning and proper team-work are needed for the successful perioperative management of these patients.
Declaration of patient consent
The authors certify that they have obtained appropriate patient consent forms. In the form, the patient's legal guardian has given consent for images and other clinical information to be reported in the journal. The legal guardian understands that the name and initials of the patient will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]