Abstract
Goldenhar syndrome, a rare congenital anomaly, manifests as craniofacial malformations often necessitating intricate surgical interventions. These procedures, though crucial, can expose patients to diverse postoperative complications, including hemorrhage or infection. A noteworthy complication is stroke, potentially linked to air embolism or local surgical trauma. We highlight a case of a male patient, aged 20 years, who experienced a significant postoperative complication of an ischemic stroke, theorized to be due to an air embolism, after undergoing orthognathic procedures for Goldenhar syndrome. The patient was subjected to LeFort I maxillary osteotomy, bilateral sagittal split ramus osteotomy of the mandible, and anterior iliac crest bone grafting to the right maxilla. He suffered an acute ischemic stroke in the left thalamus post-surgery, theorized to stem from an air embolism. Advanced imaging demonstrated air pockets within the cavernous sinus, a rare and concerning finding suggestive of potential air embolism. This case underscores the intricate challenges in treating Goldenhar syndrome patients and the rare but significant risk of stroke due to air embolism or surgical trauma. Limited literature on managing air embolism complications specific to Goldenhar syndrome surgeries exists. Generally, management includes immediate recognition, positional adjustments, air aspiration via central venous catheters, hyperbaric oxygen therapy, hemodynamic support, and high-flow oxygen administration to expedite air resorption. Our patient was conservatively managed post-surgery, and at a 3-month neurology follow-up, he showed significant improvement with only residual right arm weakness. It emphasizes the imperative of a comprehensive, multidisciplinary approach.
Goldenhar syndrome, a subtype of hemifacial microsomia, is among the rare congenital syndromes affecting the craniofacial structures. It was first described in 1952 by an ophthalmologist, Maurice Goldenhar.1 The etiology of Goldenhar syndrome is complex and not completely understood, involving a combination of genetic and environmental factors. Specific environmental factors like drug exposure are not fully established, but it is suggested that disruptions during the development of the first and second branchial arches could be a contributing factor.2 Patients exhibiting craniofacial underdevelopment originating from the embryonic first and second pharyngeal arches are variously termed, reflecting synonymous nomenclature, including otomandibular dysostosis, oculoauriculovertebral spectrum, and hemifacial microsomia.3 Notably, it results in the mandible and ear underdevelopment, with additional deformities in the orbit and vertebral column. The syndrome’s medical management primarily relies on reconstructive surgery, which takes into account the timing of intervention and its potential effects on growth.4 Its prevalence varies, with studies indicating it affects anywhere from 1:35,00 to 1:45,000 live births.2,5
There are no established diagnostic criteria for craniofacial microsomia (CFM). Its diagnosis hinges on clinical observations, identifying hypoplasia, aplasia, or anomalies in structures such as the external ear, mandible, temporal bone, zygoma, middle ear, facial muscles, facial nerve innervation, and neighboring bony and soft tissue components field.6 Some authors emphasize that isolated hemifacial microsomia and a family history of this syndrome should be considered diagnostic.7
For these patients, surgical correction of craniofacial abnormalities is essential to improve speech quality, swallowing, aesthetics, feeding, and dentition. In our case, the patient was treated with a LeFort I maxillary osteotomy, bilateral sagittal split ramus osteotomy of the mandible, and anterior iliac crest bone grafting to the right maxilla. While common complications such as hemorrhage and infection are anticipated, an infrequent but grave complication like air embolism may arise. Air embolism, although uncommon, is a potentially life-threatening event. Prompt diagnosis and management of air emboli, which are predominantly iatrogenic in origin, can significantly improve patient outcomes.8 Our research emphasizes this unusual yet severe complication in the context of surgical interventions for Goldenhar syndrome.
Case Presentation
A male patients, aged 20-years, with a diagnosis of Goldenhar syndrome (Figure 1) presented with right hemifacial microsomia, evident by hyperplasia of the mandible, zygomatic process and arch, and abnormalities in the muscles of mastication and parotid gland. He underwent a LeFort I maxillary osteotomy, bilateral sagittal split osteotomies, and anterior iliac crest bone grafting to the right maxilla under general anesthesia. During the preoperative evaluation, he was found to have a perimembranous ventricular septal defect and unilateral renal agenesis. After the surgery, the patient reportedly lost around 500 cc of blood intraoperatively. He was intubated via the nares, sedated, and subsequently admitted to the surgical intensive care unit in stable condition.
Schematic diagram of Goldenhar Syndrome
Over the next few days in the intensive care unit, as the patient remained sedated and intubated, thorough neurologic examinations were challenging. He was eventually extubated, managed on fentanyl patient-controlled analgesia for pain control, and he was later transferred to the general ward. His neurological examinations remained stable 2 days later; he moved all his limbs spontaneously and followed commands. However, it was noted that he exhibited mild weakness in the right arm, with disproportionate clumsiness. While his right deltoid showed good strength, it did not achieve a full range of motion. A subsequent computed tomography (CT) scan of the head revealed an acute/subacute non-hemorrhagic infarct in the left thalamus (Figure 2) with some air in the cavernous sinus. A magnetic resonance imaging (MRI) of the brain confirmed restricted diffusion in the left thalamus, consistent with the recent infarct, thalamic edema, and localized mass effect. A CT angiography of the head and neck showed no large vessel occlusion or high-grade stenosis but did highlight a similar left thalamic hypodensity and infarct. It also revealed small air foci in the internal peduncular system (Figure 3). As the patient remained drowsy, an electroencephalogram was performed, which showed no clear epileptiform discharges. His clinical course was further complicated by cerebrospinal fluid rhinorrhea and meningitis, which were managed with empirical antibiotics and the placement of a lumbar drain.
Non-hemorrhagic left thalamic infarct
Air detection in the interpeduncular cistern
Upon detailed examination of the CT angiography images by a neurologist, the focus was on the left paramedian branch of the medial thalamus, typically arising from the P1 segment on the left. Possible etiologies for the observed infarct included the displacement of the artery by air or pressure, especially given the proximity of air bubbles to the artery on the CT angiography, intra-arterial air emboli, or venous air emboli. Thrombo-embolism was considered less likely due to the location and the nature of the small vessel territory. However, this could not be entirely ruled. Given the recent transthoracic echocardiogram and an absence of atrial septal defect, paradoxical emboli were of minimal concern. Despite the presence of a ventricular septal defect in the patient, paradoxical embolism was deemed less likely due to the typical hemodynamics of a ventricular septal defect favoring a left-to-right shunt, without evidence of conditions such as significant pulmonary hypertension to reverse this flow. Given the patient’s age and the absence of congenital heart disease, atrial fibrillation was less concerning. Hypoperfusion was considered less likely but could occur, especially if the artery was susceptible. Considering all the clinical and radiological findings, the most plausible cause for the patient’s thalamic infarct was an air embolism.
In the management of our patient, a conservative approach was predominantly adopted, given the unique presentation and location of air embolism and the limited literature on air embolism complications specific to Goldenhar syndrome surgeries. Immediate aggressive interventions were deemed unnecessary, and the patient was closely monitored for any progression of neurological symptoms. Emphasis was placed on routine neurological assessments and supportive care. The patient demonstrated notable improvement after a 3-month follow-up with the neurology department. While there was residual weakness in his right arm, the remainder of his neurological examination yielded normal findings. This case underscores the potential efficacy of conservative management in certain presentations of postoperative complications in Goldenhar syndrome surgeries.
Discussion
Goldenhar syndrome, termed oculoauriculovertebral spectrum, represents a congenital anomaly linked to first and second pharyngeal arches manifesting in craniofacial malformations. Given the heterogeneity in clinical presentations, therapeutic interventions necessitate a tailored approach, encompassing procedures like LeFort osteotomies, mandibular reconstructions, and auricular restorations.9
In the presented case, the patient underwent surgical correction for right hemifacial microsomia associated with Goldenhar syndrome. Postoperatively, the patient developed neurological symptoms later attributed to an acute/subacute non-hemorrhagic infarct in the left thalamus. The presence of air in the cavernous sinus and internal peduncular system in imaging studies raised concerns about potential air embolism as the cause of the infarct. Air embolism, though rare, is a recognized complication of surgical procedures and can have devastating neurological consequences if not promptly diagnosed and managed.10 Based on an extensive literature review, there have been no reported cases of air embolism following surgeries for Goldenhar syndrome to date.
Cerebral venous or arterial air embolism is a rare entity and has remained poorly understood. Its true incidence is unknown, but it is often associated with high morbidity and mortality. For the venous system, the exact pathophysiology of cerebral venous air embolism remains to be clarified. Most authors agree that it results from retrograde (cranial) progression through the jugular veins of small, low-weight air bubbles, able to overcome the opposing blood flow in an upright patient. Air entry into the venous circulation occurs after manipulation of a central or peripheral vessel (the latter case is less commonly described). Jugular vein insufficiency due to lack of valves and increased intrathoracic pressure have been proposed as factors contributing to cerebral venous air embolism.11,12
In the arterial system, this can result in ischemia and infarction of the affected tissue.10 Many reviews and case studies address the simpler and straightforward mechanisms for cerebral arterial air embolism, which could arise from paradoxical embolization or direct entry of air into the arteries or pulmonary veins as a consequence of cardiac or neurosurgical interventions, high-pressure mechanical ventilation, thoracocentesis, central vein manipulation, peripheral vein cannulation and contrast injection, tissue biopsies, or endoscopic procedures.13,14 The presence of air bubbles near the left paramedian branch of the medial thalamus on the CT angiography in our patient suggests the air might have displaced or exerted pressure on the artery, leading to the observed infarct.
We have limited evidence and literature on managing such complications specific to Goldenhar syndrome surgeries. However, in general, the management of air embolism involves immediate recognition, positional changes to prevent air progression, aspiration of air through central venous catheters, hyperbaric oxygen therapy to reduce bubble size and improve tissue oxygenation, hemodynamic support including intravascular volume expansion to prevent further entry of air into the circulation, and high-flow oxygen administration to expedite the resorption of the embolized air.13 Continuous neurological monitoring and specialist consultations are also pivotal for optimal patient outcomes.15,16
Conclusion
Goldenhar’s congenital craniofacial anomaly syndrome necessitates intricate surgical interventions tailored to the patient’s presentation. While these surgeries are essential for correcting the associated deformities, they are not without risks. This research has highlighted an unprecedented complication of air embolism leading to an ischemic stroke in a patient postoperatively.
Although air embolism is a rare complication, its potential severity mandates heightened awareness, prompt diagnosis, and immediate intervention. While there is limited literature on managing complications specific to surgeries for Goldenhar syndrome, general protocols for air embolism management include immediate identification, positional adjustments, air aspiration via central venous catheters, and hyperbaric oxygen therapy. This case emphasizes the imperative of a comprehensive, multidisciplinary approach in both surgical planning and postoperative care.
Footnotes
Disclosures: The authors have reported no conflicts of interest or financial support for this work.
- Received October 28, 2023.
- Revision received March 2, 2024.
- Accepted March 3, 2024.
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