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DOI 10.1016/j.mjafi.2020.05.012

Медицинская библиотека · Medical journal, Armed Forces India · 2020

Bilateral cranial nerve involvement with facial asymmetry in a case of goldenhar syndrome.

Pandey Shikha, Sati Alok, Kumar Poninder, Kaushik Jaya

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Аннотация

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.

Для цитирования: Pandey Shikha, Sati Alok, Kumar Poninder, Kaushik Jaya. Bilateral cranial nerve involvement with facial asymmetry in a case of goldenhar syndrome.. Medical journal, Armed Forces India. 2020. DOI: 10.1016/j.mjafi.2020.05.012.
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