Anaesthetic Management of a child with Branchial

The Indian Anaesthetists’ Forum – (http://www.theiaforum.org) February 2012

Online ISSN 0973-0311

Anaesthetic Management of a child with Branchial-Oto-Renal Syndrome for Pre-Auricular Sinus Excision Nandita Kad1, Jagdish Dureja2, Neha Hasija3 1. Associate Professor, 2. Professor, 3. Post-Graduate Student Department of Anaesthesiology & Critical Care, Pt. BD Sharma PGIMS, Rohtak Correspondence: Dr. Neha Hasija ([email protected]) About the Author: Dr. Nandita Kad is working as a professor in the department of Anaesthesiology, PGIMS Rohtak. She is a recognized post graduate teacher and her special interest is managing critically ill patients. She has numerous national and international publications to her credit

Abstract: Branchial-oto-renal syndrome (BOR) is a dominant genetic condition which can result in hearing loss, ear pits, branchial cysts or fistulae and renal anomalies. BOR is said to have variable expression and affected individuals do not have all these features. Renal function maybe normal or severe renal anomalies may occur. These range from small but normal functioning kidneys to end stage renal disease (ESRD). One or both the kidneys maybe absent. Blocked tear ducts and short palate may be associated. Palatal and upper airway abnormalities may make intubation difficult. Different aids for a difficult airway need to be kept ready. Anaesthetic management includes titration of perioperative drugs keeping in view degree of renal disease. Perioperative fluid management also needs to be meticulous. Key words: Branchial-oto-renal syndrome (BOR), general anaesthesia, difficult airway, monitoring, pre auricular sinus. Introduction: Branchial-oto-renal dysplasia represents a syndrome with branchial cleft fistulae, otological anomalies (hearing loss, pre-auricular pits/tags, and structural defects of the middle/inner ear) and renal malformations. Prevalence of BOR syndrome is about 1:40000.1 Patients usually present for otological surgeries for treatment of hearing loss, masses in neck or renal involvement. Case Report: An 11 year old child, weighing 20kg diagnosed with BOR syndrome was posted for preauricular sinus excision. History of the patient revealed the presence of preauricular sinus since 4 years associated with watery discharge but not associated with pain. There was no associated hearing loss. There was history of seizures for which treatment was initiated. At the time of admission, the patient was not on any kind of treatment. On examination, mandible was small but symmetrical, neck was short and torticollis was present. Lateral rotation and extension of neck were restricted. High arched palate with restricted mouth opening (2 fingers) was present. Local examination revealed microtia and preauricular sinus (fig 1). Other associated findings included polydactyly (R), Sprengel shoulder (L) and pectus excavatum. Routine investigations including Nandita Kad, Jagdish Dureja, Neha Hasija: Anaesthetic Management of a child with Branchial-Oto-Renal Syndrome for Pre-Auricular Sinus Excision 1



haemoglobin, bleeding time, clotting time and complete urine examination were within normal limits. CT head did not reveal any abnormality. ECG showed T wave inversion and sinus arrhythmia. Chest X-Ray revealed crowding of ribs (3, 4, 5, 6) on left side. In X ray soft tissue neck C5-C6 & C6-C7 vertebrae were fused (fig 2). On ultrasound abdomen left kidney was absent however renal functions were within normal limits.

Fig 1: Showing Sprengel shoulder L and microtia R ear.

Fig 2: Lateral X Ray STN showing fusion of C5-6 and C6-7 vertebrae

Patient was premedicated with oral ranitidine 75 mg and metoclopramide 5 mg a night before and in the morning of surgery and explained about the procedure. On the day of surgery, difficult airway cart was arranged and meticulously checked. Monitoring was established with electrocardiography (ECG), pulse oximetry (SpO2) and non invasive blood pressure (NIBP), intravenous access was established using 22 G cannula with ringer lactate. Glycopyrollate 0.1mg was given intravenously; Patient was preoxygenated for 3 minutes with 100% oxygen. Thiopentone sodium 100 mg, fentanyl 40 µg were given intravenously. After assessing the adequacy of mask ventilation, patient was given suxamethonium 40 mg intravenously. On laryngoscopy with Macintosh blade size 2 and after optimum external laryngeal manipulation, short and stiff epiglottis was revealed. Glottis was not visualized (grade 3 Cormack and Lehane). Endotracheal intubation was done with uncuffed endotracheal tube of ID 5.0mm with help of stylet and tube was just slid behind the epiglottis. Bilateral air entry was checked and was found to be equal. Endotracheal tube was fixed after capnography and auscultation confirmed its placement in trachea, and was connected to paediatric circuit. Anaesthesia was maintained with O2, N2O, and halothane (33:69; 1%). Vecuronium 1.5mg was given intravenously. Appropriate fluid replacement and continuous vital monitoring was done throughout the surgery. Per-operative hemodynamics was stable. Anaesthesia was reversed after the completion of surgery with neostigmine 1mg, glycopyrrolate 0.2mg intravenously and extubation done when child was awake and obeying commands. Patient was shifted to recovery room and was observed for any signs of obstruction or desaturation. Nandita Kad, Jagdish Dureja, Neha Hasija: Anaesthetic Management of a child with Branchial-Oto-Renal Syndrome for Pre-Auricular Sinus Excision 2



Discussion: The term Branchial-oto-renal syndrome or dysplasia (also referred to as Melnick Fraser syndrome) was coined by Melnick in 19751. It is an autosomal dominant condition with an incidence of 1 in 40000. Mutation in the EYA1 gene on chromosome 8(40%)2, SIX1 and SIX5 have been postulated as cause of the disease. In the Branchial-otic syndrome there are no renal anomalies seen. 2% of profoundly deaf patients have BOR.1,3. Diagnostic criteria for BOR syndrome include at least 3 major criteria or 2 major and 2 minor criteria in the absence of family history.

• • • • •

Major criteria Second branchial arch anomalies Deafness Preauricular pits Auricular deformity Renal anomalies

• • • • •

Minor criteria External auditory canal anomalies Middle ear anomalies Inner ear anomalies Preauricular tags Other: facial asymmetry, palate abnormalities

Hearing loss is present in 90% patients which could be sensorineural, conductive (30%) or mixed (50%). Ear pits are found in 80% patients. Otological findings include abnormalities of external ear (hypoplastic helix, microtia), middle ear (ossicular malformations) and inner ear (cochlear hypoplasia)1,3. Branchial anomalies include branchial cysts/fistulas are present in 60% patients. These are due to abnormal development of branchial arch leading to masses in neck and branchial cleft cysts. Abnormal connections lead to fistulae which are passages between skin of neck & throat near tonsils. Renal anomalies are found in 15% patients. They range from minor changes in anatomy of kidney/urinary collection system, absent kidneys to ESRD. Most important renal abnormality leading to ESRD is unilateral renal agenesis with contralateral hypodysplasia. The anomalies can be ureteropelvic junction obstruction/ vesico-ureteric reflux, bifid kidneys with double ureter and calyceal anomalies. Associated findings includes aplasia/stenosis of lacrimal duct, palatal abnormalities including high arched palate, cleft palate, bifid uvula, hemifacial microsomia, overbite, small mandible, long narrow face with paralysis of facial muscles, retrognathia, euthyroid goitre and gustatory lacrimation. Anaesthetic challenges include difficult airway, renal involvement and masses in the neck. Masses in neck can lead to obstructive symptoms, tracheal deviation, difficult laryngoscopy and intubation and these patients should be assessed accordingly. Difficult airway is anticipated because of the presence of high arched palate, retrognathia, reduced mouth opening, fused cervical vertebrae, short neck and decreased neck movements. Sedative drugs in premedication are avoided because of risk of obstruction. Difficult airway cart and expertise should be made available and checked. Alternative laryngoscope blades like Magill blade are helpful in presence of small mandible/retrognathia. Retromolar/ paraglossal approach can be tried. Awake intubation is an option but only in cooperative adults, not in paediatric patients. Fiberoptic intubation is the best Nandita Kad, Jagdish Dureja, Neha Hasija: Anaesthetic Management of a child with Branchial-Oto-Renal Syndrome for Pre-Auricular Sinus Excision 3



option in children in difficult airways with inhalational induction while maintaining spontaneous breathing. Intubating stylet or tube changer shall be made available. Laryngeal mask airway of appropriate size should be made available as rescue airway. Invasive airway access is the last resort. Renal involvement demands titration or avoidance of nephrotoxic drugs like NSAIDS and antibiotics. Drugs excreted from kidneys like pancuronium are to be avoided. Low doses of drugs are to be administered and meticulous fluid management is to be done. References: 1.

2. 3.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007;80:800–4. Chang EH, Menezes M, Meyer NC, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23: 582–589. Konig R., Fuchs S., Dukiet C. Branchio-Oto-Renal (BOR) syndrome:variable expressivity in a five-generation pedigree. Eur J Pediatr (1994) 153:446-450

Nandita Kad, Jagdish Dureja, Neha Hasija: Anaesthetic Management of a child with Branchial-Oto-Renal Syndrome for Pre-Auricular Sinus Excision 4