Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

Abstract

Oculo-auriculo-vertebral spectrum (OAVS) is an uncommon congenital disorder of abnormal development of the first and second pharyngeal arches. This spectrum is characterized by craniofacial microsomia, epibulbar dermoids, ear abnormalities, renal and cardiac defects, and a wide range of vertebral segmentation and formation disorders. Frequently, the cervicothoracic spine is involved. Only recently, the morbidity attributed to the spinal abnormalities has gained attention. Strategy and timing of spine surgery has become increasingly important in patients with OAVS. Here, we report a case of OAVS with characteristic vertebral cervical and thoracic involvement and its sequelae requiring multiple spinal procedures, further complexed by an unprecedented occult tethered cord syndrome, which was successfully treated by surgical detethering. In this context, the recent literature on spinal anomalies is reviewed.

Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow up case of 12 years old female

“…GHS is a rare inherited condition with an uncertain etiology and is identified as a triad of eye dermoids, mandibular hypoplasia and accessory tragic [ 6 ]. This condition is characterized by multiple abnormalities that affect the first and second bronchial arches of the first pharyngeal pouch, first brachial cleft, and primordial of the temporal bone [ 3 , 7 ].…”

Commentary: Endoscopic Endonasal Odontoidectomy for Upper Cervical Spine and Brainstem Decompression in a Patient With Goldenhar Syndrome: 2-Dimensional Operative Video

“…The presence of occult craniocervical instability, as well as tracheal and faciomaxillary abnormalities make intubation challenging in some patients; hence, it should be performed by a well-experienced anesthetic team under specific precautions. 3 In the current case presentation, 1 one would argue about using a redo posterior decompression approach to decompress the stenotic foramen magnum. However, I support the authors' decision in selecting the aforementioned approach, taking into consideration that the basilar invagination was the main component causing compression over the medulla and proximal cervical spinal cord.…”

“…Originally the literature focused on the craniofacial dysmorphic features; in the last few decades, the aspect of central nervous system and vertebral abnormalities has drawn attention. 3 The frequency of central nervous system involvement varies from 2% to 69%, including corpus callosum dysgenesis, brain atrophy, asymmetric lateral ventricles, cerebellar hypoplasia, aqueductal stenosis, obstructive hydrocephalus, cerebral lipomas, and hamartomas. 4 The incidence of spine anomalies was estimated to range between 8% and 83%; however, in most studies, only conventional radiographs were used, so the true extent or spectrum of spine malformation cannot be well-studied.…”

“…5 It has been reported that early identification of congenital vertebral anomalies is of paramount importance because it allows recognition of spinal deformity at an early stage, before further progression of the disease occurs, when appropriate surgery can be performed safely and produce better results. 3,6 Obviously, the presence of spinal abnormalities requires regular assessment using flexion-extension views, computed tomography scan, and MRI. It has been postulated that asymptomatic patients with Goldenhar syndrome should be monitored clinically and radiologically every 6 month and be advised to avoid excessive physical activities and dangerous sports to minimize the risk of catastrophic events.…”

Manifestaciones bucales del espectro oculo-aurículo-vertebral (Síndrome de Goldenhar): Una revisión narrativa

“…Defectos del sistema nervioso: Atrofia cerebral, hipoplasia del cerebelo, disgenesis del cuerpo calloso, ventrículos laterales asimétricos, estenosis acueductal con obstrucción, hidrocefalia, lipomas y hematomas cerebrales. [30][31][32] (iii). Defectos renales: Fusión renal, agenesia renal, reflujo vesicouretral, obstrucción y duplicación uretral y riñón poliquístico; con frecuencia del 1 al 10%.…”