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A rare case of congenital facial nerve palsy with extreme ocular manifestations
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  1. Rahul Kumar Bafna1,
  2. Suman Lata1,
  3. Anusha Sachan1 and
  4. Mohamed Ibrahime Asif2
  1. 1Ophthalmology, All India Institute of Medical Sciences, New Delhi, India
  2. 2Opthalmology, Rajendra Prasad Center for Ophthalmic Sciences, Delhi, Delhi, India
  1. Correspondence to Dr Suman Lata; suman.dhanda300{at}gmail.com

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Description

A 12-month-old malnourished female child, born by normal vaginal delivery, presented to us with lagophthalmos and healed corneal ulcer with keratinisation. Examination revealed right facial asymmetry, temporal hollowing, loss of nasolabial fold and drooping of the right angle of mouth (figure 1C) with lagophthalmos, ptosis with grade 6 exposure keratopathy of right eye (figure 1A,B—side view, 1d—front view). A clinical diagnosis of congenital facial nerve palsy with exposure keratopathy was made. In addition to facial nerve palsy, there was laryngomalacia resulting in protein energy malnutrition. On paediatric evaluation, no other cranial nerve or other organ abnormalities were seen. Lateral tarsorrhaphy was done and planned for penetrating keratoplasty subsequently.1 We highlight the need for early ocular examination and regular follow-up in these cases to avoid blinding sequelae. Congenital facial nerve palsy and musculoskeletal abnormalities can be associated with Moebius,2 Poland,3 Goldenhar4 and CATCH-225 syndromes, and needs a careful evaluation for same.

Figure 1

(A) Shows right facial asymmetry, temporal hollowing, lagophthalmos with healed keratitis. (B) A side view of the right eye showing grade 6 exposure keratopathy involving central and inferior cornea. (C) Shows loss of right side nasolabial fold and drooping of the right angle of mouth. (D) A front view of the right eye showing grade 6 exposure keratopathy involving central and inferior cornea.

Patient’s perspective

We, the parents of child (12 months old child) are very disturbed with the condition of our only child. We have been explained about the nature of disease and the outcomes of intervention (tarsorrhaphy). We are a bit relieved after understanding the when and why it happened to our child and are hopeful about the improvement in eye status and look forward to future intervention in terms of optical penetrating keratoplasty for visual rehabilitation.

Learning points

  • Congenital facial nerve palsy needs early diagnosis and regular follow-up to look for recovery and for development of any ocular complications.

  • Congenital facial nerve palsy and musculoskeletal abnormalities can be associated with Moebius, Poland, Goldenhar or CATCH-22 syndrome, and needs careful evaluation.

References

Footnotes

  • Twitter @Anusha Sachan

  • Contributors Dr RKB: Conception and design. Dr SL: Planning and reporting: Dr AS: Acquisition of data. Dr MIA: Data analysis and review of literature.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Disclaimer Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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