Case Report
An 18-year-old male, known with the Delleman syndrome, presented for removal of ossifying fibromas in the nasal bridge and a mesh reconstruction. He had a previous anaesthetic five years prior for the removal of fibromas in the mandibular region. He had a history of moderate intellectual disability and behavioural frontal lobe symptoms, such as an inability to read social cues and aggressive behaviour. He had intractable seizures on sodium valproate, risperidone, levetiracetam and lamotrigine.
He had marked facial asymmetry with a hypoplastic left zygomatic region on inspection. He also had left microphthalmia and unilateral left facial cutaneous lesions (Figure 1). The facial asymmetry raised concerns for potentially challenging bag-mask ventilation. His airway examination showed normal mouth opening with a normal range of neck motion. However, he had missing incisors and buck teeth, and these features posed a potentially difficult intubation.
Facial asymmetry with unilateral microphthalmia (arrow 1) with a hypoplastic left zygomatic area (arrow 2). Left cutaneous lesions are evident (arrow 3). An overbite and missing incisors are seen (arrow 4).
His imaging revealed an arachnoid cyst with cerebral hypoplasia and a dilated lateral ventricle on the left hemisphere of the brain (Figure 2).
Computed tomographic scan demonstrating an arachnoid cyst anterior to the left temporal lobe (arrow 1) and left cerebral parenchymal hypoplasia with associated dilatation of the left lateral ventricle (arrow 2).
Consent was obtained from his mother as the patient legally lacked capacity to give consent. Preoperatively, no premedication was given, and he fasted for more than six hours. His antiepileptic medication was continued throughout the perioperative period. Standard ASA monitors were used, and baseline vitals were obtained preinduction. An inhalational induction was performed using sevoflurane, and an intravenous line was sited post-induction. Fentanyl 2–3 g/kg and propofol 1 mg/kg were administered.
Bag mask ventilation was confirmed prior to administering muscle relaxants. The patient was then paralysed with rocuronium 0.6 mg/kg, and phenylephrine was applied into the nostrils to vasoconstrict vessels and decrease the risk of nasal bleeding. A nasal intubation with video-assisted laryngoscopy was done, and first-pass intubation was achieved. A throat pack was inserted, as bleeding in the airway was anticipated. Anaesthesia was maintained with sevoflurane.
After the procedure, the throat pack was removed, and the airway was suctioned of secretions and blood. Muscle relaxation was reversed with neostigmine and glycopyrrolate, and emergence and extubation were uneventful. Once fully awake, the patient was sent to the recovery bay. There were no postoperative complications, and the patient was discharged later that week.
Discussion
Delleman syndrome, also known as oculocerebrocutaneous (OCC) syndrome, is a rare, sporadic, autosomal dominant, usually lethal mutation that is only compatible with life in the mosaic state. It has a male preponderance, and no racial association has been established. It presents with a constellation of neuroectodermal lesions, mainly cutaneous skin tags, microphthalmia and orbital cysts.(1,4)
It was first described in 1981 by Delleman and Oorthys in two cases of presumably unrelated boys with orbital cysts, cerebral hypoplasia, and focal dermal hypoplasia.(3) Intracranial pathology includes agenesis of the corpus callosum, hydrocephalus and cerebral cysts. Since the first case reports, approximately 40 cases have been described.(5)
Several other phenotypic features like vertebral anomalies, heart defects and facial dysmorphia have been included in the spectrum of Delleman syndrome over the years.(6) Other syndromes, such as Goldenhar and Goltz syndrome, have similar clinical features and could be differential diagnoses. Still, intracranial cysts, corpus callosum agenesis and periorbital skin tags are unique to Delleman syndrome.(4,7) Intellectual delay and seizures are well described as part of the condition.
There is limited literature regarding the anaesthetic implications associated with Delleman syndrome, especially in adult patients. Sadhasivam et al. published the first case report of the anaesthetic implications associated with Delleman syndrome in a 2-month-old child presenting for enucleation of the eye.(7) The concerns reported in that case mainly pertained to the paediatric population and would generally not apply to our patient.
Our patient had the classical triad of ocular, cutaneous and central nervous system malformations. He had left-sided microphthalmia, cutaneous lesions and large cerebral cysts, as demonstrated on his CT scans.
Our patient's facial asymmetry and zygomatic hypoplasia presented a potential difficulty for bag-mask ventilation. Given the history of a prior general anaesthetic not requiring an awake fibreoptic intubation and the presence of adequate mouth opening of approximately 5 cm, we opted for an inhalational induction. Adequate bag-mask ventilation was confirmed before the administration of muscle relaxants.
The presence of buckteeth, missing incisors and hemifacial microsomia presented a potential difficulty with laryngoscopy. In anticipation of this, we opted to use video laryngoscopy as our initial method of intubation and were successful on first-pass intubation.
Many antiepileptic drugs can be potent hepatic cytochrome P450 enzyme inducers or inhibitors. This constitutes the most important mechanism of drug interactions involving antiepileptic drugs. The older generation antiepileptic drugs such as carbamazepine and phenytoin are potent hepatic enzyme inducers. This may decrease the plasma concentration of concurrently administered antibacterial and immunosuppressant drugs.(8) Most anaesthetic agents have anticonvulsant properties, but those with proconvulsant activity should be avoided. An example of a proconvulsant is the opioid meperidine, also known as pethidine.(8)
Seizures pose a challenge in patients under general anaesthesia. They may be difficult to diagnose and manage intraoperatively and pose a challenge in awakening patients from anaesthesia.(8) An intraoperative EEG would be ideal for monitoring seizure activity; however, it was not used in our case as it is not available in our institution. There should be a high index of suspicion when clinical signs such as an increase in end-tidal carbon dioxide, hypertension, tachycardia, or pupillary dilatation occur in the anaesthetised patient.
Conclusion
Delleman syndrome is a very rare disease with multisystem involvement. Intracranial malformations and facial asymmetry can lead to a potentially difficult airway in clinical practice. Thus, a thorough airway assessment must be done at the preoperative visit, and all airway rescue devices and adjuncts should be available. Diseases associated with the syndrome, such as epilepsy and potential drug interactions with antiepileptics and other psychoactive drugs, should be considered carefully. Epilepsy is a common manifestation that requires careful attention to drug interactions between anti-epileptics and anaesthetic agents and monitoring for detecting seizures while under anaesthesia.