Central Nervous System/Vestibular abnormalities in Oculo-Auriculo-Vertebral Spectrum Disorders

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Conference Proceeding

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Objective: To highlight central nervous system/vestibular abnormalities associated with Goldenhar syndrome.

Background: Oculo-auriculo-vertebral spectrum (OAVS) is a rare embryonic disorder secondary to abnormal development of the 1st and 2nd pharyngeal arches. Unilateral involvement occurs in 85% of cases. The phenotype is variable and marked hemifacial microsomia affecting the mandible, maxilla, and orbit occurs in the most severely affected. Goldenhar syndrome, at the severe end of the OAV spectrum, is characterized by involvement of organs not related to the pharyngeal arches such as the vertebrae, the eyes, and the heart. The occurrence of central nervous system and vestibular anomalies is not well recognized.

Design/Methods: We report the case of a baby girl born by cesarean section at 37 weeks after pregnancy which was complicated by cocaine use and polyhydramnios. Clinical features were consistent with Goldenhar syndrome, and there was striking hypoplasia of the right jaw. The right pinna was small, malformed, and low set. There were membranous growths on the right eyelid, segmentation abnormalities of thoracic vertebral bodies, an absent left 12th rib, and a ventricular septal defect.

Results: CT scan of the head confirmed that the right mandible was poorly formed. In the right ear, there was opacification of the middle ear cavity with small and malformed malleus and incus, small internal auditory canal, and malformed and dilated inner ear vestibule. The cochlea was also malformed. There was a lipoma at the quadrigeminal plate and an arachnoid cyst in the right cerebellopontine angle.

Conclusions: The inner ear and brain anomalies in our patient including the midline lipoma and arachnoid cyst, concordant with isolated reports in the literature, suggest the involvement of bone and neural structures bordering the pharyngeal arches in the pathogenesis of OAVS. Comprehensive neuro-imaging is important to fully elucidate the extent of central nervous system involvement in OAVS to optimize care.





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