Bilateral cranial nerve involvement with facial asymmetry in a case of goldenhar syndrome.
Med J Armed Forces India
; 78(Suppl 1): S296-S299, 2022 Sep.
Article
em En
| MEDLINE
| ID: mdl-36147415
ABSTRACT
A 9-year-old male patient presented with recurrent episodes of corneal ulcers in both eyes since the age of 2 years. The patient had profound bilateral hearing loss and multiple left-sided preauricular skin tags. He was diagnosed with neurotropic keratitis with bilateral corneal anesthesia in both eyes and on further work-up was diagnosed to have Goldenhar Syndrome with features of left-sided facial skeletal hypoplasia and bilateral auditory nerve atresia. The patient was managed by multiple specialities with standard of care medications, therapies, and procedures and is presently thriving. Goldenhar syndrome is a rare congenital disorder which involves ocular, auricular, and cranial nerves along with facial and vertebral anomalies. The insufficient knowledge of its pathogenesis and variable clinical presentations present a challenge in timely diagnosis and management of these cases. The involvement is generally unilateral and unilateral skeletal asymmetry with bilateral cranial nerve involvement is a rare event. The wide variation in clinical presentation and under diagnosis of these cases in India mandates a better understanding of this entity among medical professionals to facilitate early diagnosis and favorable clinical outcomes.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Screening_studies
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article