A rare association of monocular elevation deficiency and goldenhar syndrome secondary to vascular insufficiency: A case report.

INTRODUCTION AND CLINICAL

IMPORTANCE

Goldenhar syndrome (GS) manifests as a triad of ocular, auricular, and vertebral anomalies. We present a rare case report presenting with monocular elevation deficiency (MED) in association with GS secondary to radiologically proven vascular insufficiency.

CASE PRESENTATION: A 9-year-old male presented with drooping of the upper eyelid in the right eye (OD), absence of right ear, and swelling near the ear remanent. On detailed Ophthalmic evaluation revealed right MED, moderate anisometropia amblyopia with right-side lower motor neuron facial nerve palsy with right infected first branchial cyst with radiological evidence of stenosed common carotid artery. Thus, a diagnosis of GS secondary to vascular insult was made. He was advised to use prescribed spectacle correction and part-time occlusion for amblyopia and was referred to plastic surgery, pediatric, and ear nose throat (ENT) team for further evaluation.

CLINICAL DISCUSSION: Goldenhar syndrome is a complex disorder encompassing a spectrum of abnormalities affecting the heart, lungs, neurological system, gastrointestinal, and musculoskeletal. Several theories have been offered to explain the etiology, but none have been validated until now. The most common malformations are facial asymmetry (65 %), epibulbar dermoids (35 %), and external ear anomalies with pre-auricular tags. MED in GS secondary to vascular insult is a rare presentation, which is not been reported in the literature to date.

CONCLUSION

GS can have variable presentation depending upon the underlying etiology and severity of the insult. In such cases we must adopt a multidisciplinary approach to ensure the optimal treatment plan for the patient's well-being.