Anaesthetic management in Gorlin-Goltz syndrome.

Gorlin-Goltz syndrome is a rare autosomal-dominant syndrome related to mutation in "Patched" tumour suppressor gene on chromosome 9. Basocellular carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri are its major features, along with more than 100 minor features. Odontogenic cysts, notorious for recurrence, can make endotracheal intubation difficult, requiring modification of the standard intubation technique. We report such a case managed successfully by awake fibreoptic intubation. Direct laryngoscopy under anaesthesia later confirmed that it was a good decision.

INTRODUCTION

Gorlin-Goltz syndrome is a rare autosomal-dominant syndrome related to mutation in “Patched” tumour suppressor gene on chromosome 9.[1] Odontogenic keratocysts appear in the 65–75% of these patients. Multiple cysts of variable size can be found in the maxilla, mandible and airway,[2] and may make endotracheal intubation difficult. We came across one such patient who needed modification of the standard intubation technique.

CASE REPORT

An 18-year-old female came for a pre-anaesthesia check-up with complaints of multiple swellings in the oral cavity. She was diagnosed to have Gorlin-Goltz syndrome, and had undergone surgery for the same problem 3 years back. Her facial features showed mild facial asymmetry, with the lower jaw slightly deviated to the left side, and flat bridge of the nose [Figure 1]. She had few brownish black coloured mole-like papules on the chest and back.

Figure 1

Patient of Gorlin-Goltz syndrome showing slight facial asymmetry

Her mother also had a history of multiple jaw swellings, for which she had been operated twice, and multiple discoloured cutaneous swellings.

On examination, she had irregular dentition, high-arched palate and Mallampatti classification 1 status, but the inter-incisor distance was only 1.5 cm. There was a large swelling on the left upper jaw, with a tooth protruding at its base partly obstructing the posterior view [Figure 2]. Two smaller swellings were seen on the right upper jaw while few irregular elevations were palpable on the mandible beneath the skin. Cardiovascular and respiratory systems were normal.

Figure 2

Big odontogenic cyst – left upper jaw

Her X-ray skull (Water's view) showed multiple bone cysts in the mandible and maxilla [Figure 3]. Ultrasonography of her abdomen revealed presence of an ovarian cyst.

Figure 3

X-ray showing multiple odontogenic cyst

The patient was posted for decortication of cysts and excision of protruding ones. The procedure demanded general anaesthesia with nasal intubation. We planned awake fibreoptic intubation for this patient.

The procedure was explained to the patient and her parents and an informed valid consent was obtained.

In the operation theatre, after attaching the ECG, pulseoximeter and non-invasive blood pressure cuff and securing an intravenous line, the patient's airway was anaesthetised using lignocaine gargles and nasal packing with 2% lignocaine. 0.05% xylometazoline was instilled in the nostrils to minimise the mucosal bleeding. Inj. Glycopyrrolate 0.2 mg, Inj. Midazolam 1 mg and fentanyl 2 mcg/kg were given. The remaining airway was anaesthetised with 4% lignocaine using the “spray as you go” technique. A nasal endotracheal tube (ETT) of 7.0 mm ID was railroaded on the fibreoptic bronchoscope (fob). Tracheal placement was confirmed by EtCO2 tracing and the patient was anaesthetised with Inj. propofol 2 mg/kg and vecuronium 0.1 mg/kg. Anaesthesia was maintained with Nitrous oxide–oxygen (50:50) and 1% isoflurane. Surgery lasted for 4 h, and was uneventful. A total of seven cysts were enucleated. Biopsy confirmed presence of thick coats of keratinised stratified epithelium, a hallmark of odontogenic cyst. The extubation and post-operative periods were uneventful.

DISCUSSION

Gorlin-Goltz syndrome is a rare disorder with variable prevalence of nearly 1 in 60,000 inhabitants.[3]

Pigmented basocellular carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri are major features of this syndrome, while more that 100 minor features have been described. The more relevant features are the following:

Kyphoscoliosis, imperfect segmentation of the cervical vertebrae, cleft palate, mandibular prognathia, spina bifida occulta, medulloblastoma, frontal and biparietal bossing, meningioma, macrocephaly, cardiac or ovarian fibroma, strabismus, high-arched palate, renal anomalies and hypogonadism.

Correct diagnosis of the Gorlin-Goltz syndrome requires presence of two major or one major plus two minor features.[245]

In our case, presence of odontogenic keratocysts was a major criterion, while minor criteria included presence of facial asymmetry, ovarian fibroma, dark pigmented naevi and positive family history.

Ka young Rhee[6] and colleagues reported a case of Gorlin-Goltz in whom mask ventilation became difficult due to the presence of papillomatous growths in the pharynx, which were discovered after laryngoscopy. Holzman[7] also reported a similar case where there was persistent partial airway obstruction revealing verrucous lesions in the hypopharynx and supraglottic larynx on laryngoscopy. This made us to take a cautious route for anaesthetising this patient.

Blind nasal intubation is associated with risk of airway trauma, laryngeal oedema and bleeding, which may make the mask ventilation and use of fob difficult. Awake fibreoptic intubation remains a “gold standard” in such situations. Indeed, when we performed direct laryngoscopy under anaesthesia later, we understood that it was highly difficult to pass an endotracheal tube orally or manipulate a nasal ETT through the cords with the help of Magill's forcep due to presence of protruding cysts in the oral cavity. Odontogenic cyst has a high recurrence rate.[24] Therefore, these cases may need anaesthesia frequently and, each time, intubation may be more difficult due to previous mucosal fibrosis or cyst infection, as it was in our case. Hence, these patients should undergo thorough airway-related examination and investigations every time they are posted for surgery.

In conclusion, it can be said that the Gorlin-Goltz syndrome, although a rare disorder, can pose challenges for an anaesthetist. Thorough investigations and readiness to deal with difficult airway can help prevent a catastrophe.