A case report of severe scoliosis in a boy with goldenhar syndrome

HD Bharath; R Krishnakumar

doi:10.4103/joasis.joasis_33_22

CASE REPORT

Year : 2022 | Volume : 19 | Issue : 2 | Page : 79-84

A case report of severe scoliosis in a boy with goldenhar syndrome

HD Bharath, R Krishnakumar
Department of Spine Surgery, Medical Trust Hospital, Kochi, Kerala, India

Date of Submission	23-Oct-2022
Date of Acceptance	25-Oct-2022
Date of Web Publication	09-Feb-2023

Correspondence Address:
R Krishnakumar
Department of Spine Surgery, Medical Trust Hospital, Kochi, Kerala
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joasis.joasis_33_22

Abstract

Goldenhar syndrome is a condition comprising various congenital anomalies of structures developing from the first and second branchial arches. Classically, it includes impaired development of structures such as eyes, ears, lips, tongue, palate, mandible, maxilla, and vertebral anomalies. The etiology for this syndrome is not clear; however, genetic and many other causes have been described for the development of the abovementioned anomalies. A 13-year-old boy presented with deformity of the back since birth, which is gradually progressing, now causing difficulty in breathing on exertion. Parents give a history of anomalies of the eyes, ear, face, and deformities of the neck and chest since birth. X-ray, computed tomography, and magnetic resonance imaging of the spine showed severe congenital scoliosis with multiple vertebral and rib anomalies with no intraspinal anomalies or spinal cord malformations. Posterior scoliosis correction and fusion with convex side costoplasty were performed after a detailed preoperative workup in view of syndromic etiology. Postoperatively, the boy was stable and the check X-ray showed satisfactory deformity correction. Severe scoliosis with Goldenhar syndrome always throws a challenge to treating spine surgeons as they are associated with multiple other regional and systemic abnormalities. A detailed examination, preoperative clinical and radiological workup, and proper planning are very much essential in treating these deformities.

Keywords: Congenital, Goldenhar syndrome, oculo-auriculo-vertebral, scoliosis

How to cite this article:
Bharath H D, Krishnakumar R. A case report of severe scoliosis in a boy with goldenhar syndrome. J Orthop Assoc South Indian States 2022;19:79-84

How to cite this URL:
Bharath H D, Krishnakumar R. A case report of severe scoliosis in a boy with goldenhar syndrome. J Orthop Assoc South Indian States [serial online] 2022 [cited 2023 Mar 27];19:79-84. Available from: https://www.joasis.org/text.asp?2022/19/2/79/369407

Introduction

Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia, is a developmental disorder involving primarily the structures developing from the first and second branchial arches during embryogenesis. Clinically, this syndrome has a heterogeneous phenotype and is typically characterized by abnormal development of the ear, ophthalmic anomalies, mandible anomalies, and vertebral malformations. First described by Dr. Maurice Goldenhar in 1952.^[1] Later in 1963, Gorlin pronounced this as oculo-auriculo-vertebral dysplasia and he also included vertebral anomalies as signs of this syndrome.^[2] The incidence is around 1:35,000–1:56,000, and the male-to-female ratio was 3:2.2.^[3] Etiologies for this condition are not fully established, however, abnormalities of neural crest cells and chromosomes and various environmental factors during the antenatal period such as drugs (e.g., cocaine and retinoic acid) were also related to the development of the disease. Furthermore, consumption of alcohol by the mother during pregnancy and maternal diabetes have been listed as possible etiologic factors.^[4] The clinical presentation includes abnormalities of the face, ears, and eyes, deformities of the back, and congenital heart problems. Literature has reports pertaining to the facial, ophthalmic, and auricular anomalies in Goldenhar syndrome and other related conditions,^[5],[6],[7] but information regarding the associated spine anomalies in the orthopedic literature is sparse. Here, we report a case of Goldenhar syndrome with severe thoracolumbar scoliosis along with associated vertebral and rib anomalies. We also discuss the ophthalmic involvement, clinical features, radiological investigations, and diagnosis and management of the spinal deformity.

Case Report

A 13-year-old boy presented to the spine surgery outpatient department with complaints of deformity of the back which is gradually progressing since birth. In the recent past, he started to experience back pain while prolonged sitting and walking along with difficulty in breathing on exertion or sports. He also has complaints about his eyes, where in his right eye, vision is poorer compared to his left eye. Parents give a history of deformity of the spine since birth, both eye problems where the child had undergone first surgery on his right eye at the age of 4 months, and a second surgery on the same eye at the age of 6 years. He was the firstborn child, had a full-term cesarean section, birth weight was 3 kg, and was kept in the neonatal intensive care unit for neonatal jaundice. On 4^th day after birth, his cardiac evaluation was done, and was diagnosed to have acynotic congenital heart disease with VSD. His developmental history and immunization history did not yield any positive information and he was normal for his age. There was no history of any exposure to toxic agents, alcohol, or other substance abuse or any trauma/insult to the mother during the antenatal period. The parents were nonconsanguineous in relation. All antenatal checkups were taken as per schedule, and unfortunately, no fetal anomalies were picked up during those visits.

On physical examination, the facial asymmetry with the right half smaller than the left and right ear pre-tragal tag was observed [Figure 1]. Both the eyes had angular and limbal dermoids along with the right eye having moderate ptosis and exotropia of 15° [Figure 2]. The boy had chest deformity in the form of pectus carinatum. He had a tight and short neck on the left side (torticollis) compared to the right side. The spine deformities were obvious and gross. His right shoulder was up compared to his left, right scapular prominence was seen, and left posterior chest hollowness along with deep crease was observed. The right flank was flattened and the left flank had a deep skin fold along with a prominent iliolumbar hump. On Adam's forward bending test, he had a grade 3 rib hump on the right upper back [Figure 3]. He had a history of right eye surgeries done at 4 months and 6 years of age. He has congenital acynotic heart disease with a ventricular septal defect which was detected soon after the birth and was advised for observation alone. His pulmonary function test revealed severe obstruction and restriction. He did not suffer from the ear or gastroenteric abnormalities. His plain radiographs of the spine demonstrated thoracolumbar scoliosis with a Cobb angle of 102° with significant obliteration of the right lung [Figure 4]. The trunk shift is 49 mm, suggesting that the patient needs surgical correction. Magnetic resonance imaging revealed no evidence of any spinal cord or canal abnormalities. Computed tomography (CT) of the whole spine revealed scoliosis with severe rotational deformity with failure of fusion of anterior and posterior arches of C1 suggesting rachischisis, extensive segmental, and fusion anomalies involving C3–6 and D1, 2, 3 vertebrae, C4 hemivertebra, partial fusion noted between C3, 5, 6, 7, and extensive fusion and segmentation anomalies in ribs [Figure 5]. The diagnosis was established according to the minimal diagnostic criteria proposed by Strömland et al.,^[8] considering the combination of vertebral anomaly and ocular malformation. The patient was managed with posterior scoliosis correction; the fusion level is from T3 to L3 with right-sided costoplasty where the ribs causing the apex of the rib hump on the right side were cut. During the operation, the intraoperative spinal cord monitoring recordings were consistent and comparable to the baseline recorded just after the induction. There was no aggressive correction or osteotomies attempted while correcting the deformity in view of the cardiopulmonary compromised state which might pose systemic and anesthetic risks or complications, fusion, and segmentation anomalies in the cervical spine, and also the parents were not very much keen or demanding on deformity correction. They were well explained regarding the nature of scoliosis, limitations of the deformity correction, associated complications, and the related consequences. Postoperatively, the boy was mobilized from day 1, where the recovery was uneventful without any neurological deficit, pulmonary, or cardiac adverse outcomes.

Figure 1: Hemifacial microsomia on right side with right ear pretragal tag

Click here to view

Figure 2: Ophthalmic findings namely limbal and angular dermoids, exotropia, ptosis, amblyopia

Click here to view

Figure 3: Clinical appearance of the boy from front, back, side bending and Adam's forward bending test

Click here to view

Figure 4: Severe scoliosis to the right with Cobb angle of 102 degree on PA standing view, rib hump on standing lateral view

Click here to view

Figure 5: Multiple vertebral fusion and segmental anomalies with ribs anomalies

Click here to view

Results

The scoliosis correction in postoperative X-ray was satisfactory with Cobb angle reducing to 53° from 102°, accounting for 50% correction. The preoperative crowding of the ribs can be seen widened and distracted with the expansion of the lung space on the right side [Figure 6]. Postoperative CT scan showed the implants being in acceptable and satisfactory positions, and there was no breach/fracture of the pedicles [Figure 7]. Most importantly, his vision was normal after the long operative period following the prolonged prone positioning. Although he developed small superficial pressure sore over his anterior chest wall, which healed well with topical antibiotic ointment applications alone. His follow-up was asymptomatic and well-balanced in the sagittal and coronal planes in [Figure 8]. Both the patient and his parents were satisfied with the results of the surgery.

Figure 6: Satisfactory correction of the deformity with implants in acceptable positions

Click here to view

Figure 7: Implants in acceptable positions, no breach in the pedicles

Click here to view

Figure 8: Clinical appearance of the patient postoperatively

Click here to view

Discussion

Malformations of the spine that occur during the mesenchymal stage may be due to either a unilateral defect of formation or segmentation of the primitive vertebrae. It can result in a unilateral imbalance in the growth of the spine, leading to congenital scoliosis. Rarely, these vertebral abnormalities may be associated with a unilateral failure of the formation of the face and ear. This combination of anomalies is also described as hemifacial microsomia where one-half of the face is either small in size or it may have deformed eyes and ears. The exact origin of Goldenhar syndrome is unknown. The most widely accepted theory is that hemifacial microsomia is the result of a disturbance in the embryological development of the first and second branchial arches during the first 6 weeks of gestation.^[9] The skull and spine are formed during the first 6 weeks of embryological development. Therefore, a common pathogenic mechanism is likely to be the basis of both craniofacial and vertebral malformations in patients with hemifacial microsomia.^[10]

The nature and extent of vertebral anomalies in Goldenhar syndrome patients have been reported in a few studies in the literature. Tsirikos and McMaster^[10] reviewed 668 consecutive patients with congenital scoliosis and found that the prevalence of hemifacial microsomia was 2%. Thoracic scoliosis was the most common deformity. Of these patients, eight had an isolated hemivertebra and the remaining two had a unilateral unsegmented bar with a contralateral hemivertebra at the same level. A thoracolumbar kyphoscoliosis occurred in only one patient and was caused by a posterolateral quadrant vertebra. Hemifacial microsomia was a baseline deformity in patients with Goldenhar syndrome. However, torticollis and cervicothoracic scoliosis were the major deformities in another study. In our patient, all these abovementioned three deformities are noted. Thoracolumbar scoliosis and kyphoscoliosis were of lesser occurrence.^[11] Anderson and David^[12] reported a wide range of spinal and rib anomalies in cases of Goldenhar syndrome. The anomalies occurred with almost equal incidence in the cervical and thoracic spine of those who had whole spine assessment. The lumbar spine was less commonly affected like in our case. We believe that multiple segmentation and fusion anomalies in cervical and upper thoracic vertebrae are the primary cause for the development of the scoliosis in our patient. The chest abnormality was due to the abnormal shape, segmentation, or/and fusion of the ribs.

Osteotomies were needed in this severe scoliosis, especially at the fused vertebrae level along with a high risk of neurologic deficit. In patients with more severe and complex deformities needing posterior vertebral column resection surgery, neurologic complications were reported to be as high as 17.1%, with 3.3% permanent neurologic deficits.^[13] In our case, the case was examined by an experienced surgeon preoperatively and the neurology was documented. Intraoperative neuromonitoring was strictly carried out at each and every step of manipulation, instrumentation, and correction procedures, and the recordings were comparable and consistent with the preoperative/postinduction baseline records. Fortunately, there was no sign of neurological impairment after the surgery.

Conclusion

Goldenhar syndrome with severe scoliosis is always a challenge for treating spine surgeons. The ophthalmic, auricular, and cardiac anomalies in association with scoliosis pose more challenges to the treating clinicians. This necessitates an individual approach to each single patient and the involvement of a team of specialists in treatment planning. Perioperative and postoperative care including care of the associated systemic insults is as important as carrying out complex scoliosis correction surgeries. When performing surgery on scoliosis patients with Goldenhar syndrome, surgeons and anesthesiologists should pay extra attention on airway management in view of compromised respiratory functions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Bogusiak K, Puch A, Arkuszewski P. Goldenhar syndrome: Current perspectives. World J Pediatr 2017;13:405-15.
2.	Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963;63:991-9.
3.	Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol 2008;74:254-6. [PUBMED] [Full text]
4.	Ewart-Toland A, Yankowitz J, Winder A, Imagire R, Cox VA, Aylsworth AS, et al. Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet 2000;90:303-9.
5.	Martelli H Jr., Miranda RT, Fernandes CM, Bonan PR, Paranaíba LM, Graner E, et al. Goldenhar syndrome: Clinical features with orofacial emphasis. J Appl Oral Sci 2010;18:646-9.
6.	Rosa RF, da Silva AP, Goetze TB, de Almeida Bier B, de Almeida ST, Paskulin GA, et al. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Braz J Otorhinolaryngol 2011;77:455-60.
7.	Ashokan CS, Sreenivasan A, Saraswathy GK. Goldenhar syndrome – Review with case series. J Clin Diagn Res 2014;8:D17-9.
8.	Strömland K, Miller M, Sjögreen L, Johansson M, Joelsson BM, Billstedt E, et al. Oculo-auriculo-vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A 2007;143A: 1317-25.
9.	Renkema RW, Caron CJ, Mathijssen IM, Wolvius EB, Dunaway DJ, Forrest CR, et al. Vertebral anomalies in craniofacial microsomia: A systematic review. Int J Oral Maxillofac Surg 2017;46:1319-29.
10.	Tsirikos AI, McMaster MJ. Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine. Spine (Phila Pa 1976) 2006;31:E400-7.
11.	Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F. Distinctive spine abnormalities in patients with Goldenhar syndrome: Tomographic assessment. Eur Spine J 2015;24:594-9.
12.	Anderson PJ, David DJ. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J 2005;42:477-80.
13.	Kim SS, Cho BC, Kim JH, Lim DJ, Park JY, Lee BJ, et al. Complications of posterior vertebral resection for spinal deformity. Asian Spine J 2012;6:257-65.