Literature DB >> 36147415

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

Shikha Pandey1, Alok Sati2, Poninder Kumar3, Jaya Kaushik4.   

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.
© 2020 Director General, Armed Forces Medical Services. Published by Elsevier, a division of RELX India Pvt. Ltd.

Entities:  

Keywords:  Corneal anesthesia; Goldenhar syndrome; Neurotropic keratitis; Sensori-neural hearing loss

Year:  2020        PMID: 36147415      PMCID: PMC9485750          DOI: 10.1016/j.mjafi.2020.05.012

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN: 0377-1237


  5 in total

Review 1.  Vertebral anomalies in craniofacial microsomia: a systematic review.

Authors:  R W Renkema; C J J M Caron; I M J Mathijssen; E B Wolvius; D J Dunaway; C R Forrest; B L Padwa; M J Koudstaal
Journal:  Int J Oral Maxillofac Surg       Date:  2017-06-29       Impact factor: 2.789

Review 2.  Goldenhar syndrome: current perspectives.

Authors:  Katarzyna Bogusiak; Aleksandra Puch; Piotr Arkuszewski
Journal:  World J Pediatr       Date:  2017-06-15       Impact factor: 2.764

Review 3.  Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia).

Authors:  J K Hartsfield
Journal:  Orthod Craniofac Res       Date:  2007-08       Impact factor: 1.826

4.  Rare presentation of bilobed posterior tongue in Goldenhar syndrome.

Authors:  Thilaga Rajendran; Ganesh Ramalinggam; Valuyeetham Kamaru Ambu
Journal:  BMJ Case Rep       Date:  2017-08-01

Review 5.  Goldenhar Syndrome - ophthalmologist's perspective.

Authors:  Speranţa Schmitzer; Miruna Burcel; Dana Dăscălescu; Ioana Claudia Popteanu
Journal:  Rom J Ophthalmol       Date:  2018 Apr-Jun
  5 in total

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