Skip to main content
SpringerLink
Log in

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies

  • PAEDIATRIC NEURORADIOLOGY
  • Published:
Neuroradiology Aims and scope Submit manuscript

Abstract

Purpose

Despite its clinical implications, the MRI features of developmental facial paresis (DFP) were described in a few case reports. This study aims to describe MRI features of DFP in relation to the embryological development with a proposed radiological new grading system.

Methods

The clinical records and MRI of the brain and internal auditory canal of 11 children with DFP were retrospectively reviewed. The following sequences were analyzed: axial, oblique sagittal SPACE of the internal auditory canal and brainstem; axial T2, T1WI and coronal T2WI of the brain. The severity of the maldevelopment of the seventh nerve was graded from 0 to 4: 0 = no abnormalities, 1 = unilateral facial nerve hypoplasia, 2 = unilateral facial nerve aplasia, 3 = aplasia or hypoplasia involving facial nerves on both sides, and 4 = facial nerve aplasia or hypoplasia associated with other cranial nerve palsy.

Results

Isolated facial nerve palsy was diagnosed in seven patients. It was of grade 1 in five and grade 3 in two. Hypoplasia of the nerve with interrupted course was encountered in two cases. Other associated cranial nerve abnormalities (grade 4) were seen in four patients; two of them were diagnosed previously as Moebius syndrome. In addition to inner ear anomalies, middle and external ear and parotid gland anomalies were described.

Conclusion

To our knowledge, this is the largest series of patients with DFP that represents a continuum of isolated and combined malformations. Understanding of embryological basis can give insights into the anomalous development of the facial nerve.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

Similar content being viewed by others

Abbreviations

DFP:

Developmental facial palsy

HCFP:

Hereditary congenital facial palsy

References

  1. Falcon A, Ericson E (1990) Facial nerve palsy in the newborn; incidence and outcome. Plast Reconstr Surg 85:1–4

    Article  Google Scholar 

  2. Terzis JK, Anesti K (2011) Developmental facial paralysis: a review. J Plast Reconstr Aesthet Surg 64:1318–1333

    Article  PubMed  Google Scholar 

  3. Romo LV, Curtin HD (2001) Anomalous facial nerve canal with cochlear malformations. AJNR Am J Neuroradiol 22:838–844

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Traboulsi EI (2007) Congenital cranial dysinnervation disorders and more J AAPOS11:215–217

  5. Gupta S, Mends F, Hagiwara M et al (2013) Imaging the facial nerve: a contemporary review. Radiol Res Pract:248039. https://doi.org/10.1155/2013/248039

    Article  Google Scholar 

  6. Veillona F, Ramos-Taboadaa L, Abu-Eid M et al (2010) Imaging of the facial nerve. Eur J of Radio 74:341–348

    Article  CAS  Google Scholar 

  7. Toulgoat F, Sarrazin JL, Benoudiba F, Pereon Y, Auffray-Calvier E, Daumas-Duport B, Lintia-Gaultier A, Desal HA (2013) Facial nerve: from anatomy to pathology. Diagn Interv Imaging 94:1033–1042

    Article  CAS  PubMed  Google Scholar 

  8. Sasaki M, Imamura Y, Sato N (2008) Magnetic resonance imaging in congenital facial palsy. Brain Dev 30:206–210

    Article  PubMed  Google Scholar 

  9. Kondev L, Bhadelia AR, Douglass LM (2004) Familial congenital facial palsy. Pediatr Neurol 30:367–370

    Article  PubMed  Google Scholar 

  10. Lin KM, Huang CC, Leung JH (2008) Congenital unilateral facial palsy and internal auditory canal stenosis. Pediatr Neurol 39:116–119

    Article  PubMed  Google Scholar 

  11. Hamizan AW, Yean KT, Abdullah A (2012) Congenital bilateral facial nerve hypoplasia with sensorineural hearing loss: a case report. Int J Pediatr Otorhinolaryngol 76:455–459

    Article  PubMed  Google Scholar 

  12. Sahin Y, Güngör O, Ayaz A, Güngör G, Sahin B, Yaykasli K, Ceylaner S (2017) A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis. Brain and Development 39:166–170

    Article  PubMed  Google Scholar 

  13. Kim HS, Kim DI, Chung IH et al (1998) Topographical relationship of the facial and vestibulocochlear nerves in the subarachnoid space and internal auditory canal. Am J Neuroradiol 19:1155–1161

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Rubinstein D, Sandberg EJ, Cajade-Law AG (1996) Anatomy of the facial and vestibulocochlear nerves in the internal auditory canal. Am J Neuroradiol 17:1099–1105

    CAS  PubMed  PubMed Central  Google Scholar 

  15. Hwang JY, Yoon HK, Lee JH, Yoon HM, Jung AY, Cho YA, Lee JS, Yoon CH (2016) Cranial nerve disorders in children: MR imaging findings. Radiographics 36:1178–1194

    Article  PubMed  Google Scholar 

  16. Vogel M, Velleuer E, Schmidt-Jiménez LF et al (2016) Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. Am J Med Genet A 170:1813–1819

    Article  CAS  PubMed  Google Scholar 

  17. Gathwala G, Singh J, Dalal P (2013) Congenital facial palsy with bilateral anotia. Indian J Clin Pract 23:628–634

    Google Scholar 

  18. Keraliya AR, Naphade PS Congenital unilateral facial nerve agenesis Neurology. 2014 17;82(24):2252–2253

  19. ten Donkelaar HJ (2014) Mechanisms of development. In: ten Donkelaar HJ, Lammens M, Hori A (eds) Clinical neuroembryology development and developmental disorders of the human central nervous system, 2nd edn. Springer, London, pp 53–91

    Google Scholar 

  20. Trainor PA, Krumlauf R (2000) Patterning the cranial neural crest: hindbrain segmentation and Hox gene plasticity. Nat Rev Neurosci 1(2):116–124

    Article  CAS  PubMed  Google Scholar 

  21. Ouanounou S, Saigal G, Birchansky S (2005) Möbius Syndrome. Am J Neuroradiol 26:430–432

    PubMed  PubMed Central  Google Scholar 

  22. Srinivas MR, Vaishali DM, Vedaraju KS, Nagaraj BR (2016) Mobious syndrome: MR findings. Indian J Radiol Imaging 26:502–505

    Article  PubMed  PubMed Central  Google Scholar 

  23. Jemec B, Grobbelaar A, Harrison D (2000) The abnormal nucleus as a cause of congenital facial palsy. Arch Dis Child 83:256–258

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Mackinnon S, Oystreck DT, Andrews C et al (2014) Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome. Ophthalmology 121:1461–1468

    Article  PubMed  Google Scholar 

  25. Verzijl HT, van der Zwaag B, Lammens M et al (2005) The neuropathology of hereditary congenital facial palsy vs Moebius syndrome. Neurology 64:649–653

    Article  CAS  PubMed  Google Scholar 

  26. Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H (2015) De novo mutations in PLXND1 and REV3L cause Moebius syndrome. Nat Commun 6:7199

    Article  CAS  PubMed  Google Scholar 

  27. Chilton JK, Guthrie S (2017) Axons get ahead: insights into axon guidance and congenital cranial dysinnervation disorders. Dev Neurobiol 77:861–875

    Article  CAS  PubMed  Google Scholar 

  28. Chandrasekhar A (2004) Turning heads: development of vertebrate branchiomotor neurons. Dev Dyn 229:143–161

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Brickman TM, Jeyakumar A, F Kountakis SE (eds) (2013) Encyclopedia of otolaryngology, head and neck surgery. Springer-Verlag, Berlin-Heidelberg, pp: 853–861, Facial Fractures in Children

  30. Jervis PN, Bull PD (2001) Congenital facial nerve agenesis. J Laryngol Otol 115:53–54

    CAS  PubMed  Google Scholar 

  31. Mahale RR, Mehta A, John AA, Buddaraju K, Shankar AK, Rangasetty S (2016) Newborn with congenital facial palsy and bilateral anotia/atresia of external auditory canal: rare occurrence. J Pediatr Neurosci 11:271–273

    Article  PubMed  PubMed Central  Google Scholar 

  32. Sannagowdara K, Harmelink M, Inglese C et al (2015) Congenital unilateral facial nerve hypoplasia and parotid gland agenesis. Neurology 84(14 Supplement):2.105

    Google Scholar 

  33. Berker N, Acaroğlu G, Soykan E (2004) Goldenhar’s syndrome (oculoauriculo- vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J 45:157–160

    Article  PubMed  Google Scholar 

  34. Pavlou E, Gkampeta A, Arampatzi M (2011) Facial nerve palsy in childhood. Brain Development 33:644–650

    Article  PubMed  Google Scholar 

  35. Ciorba A, Corazzi V, Conz V et al (2015) Facial nerve paralysis in children. World J Clin Cases 3:973–979

    Article  PubMed  PubMed Central  Google Scholar 

  36. Shoman NM, Samy RN, Choo DI LM (2014) Congenital malformations of the ear. In: Elden and K.B. Zur (eds) Congenital malformations of the head and neck. Springer Science Business Media, New York, pp 23-66

    Google Scholar 

  37. Uyguner ZO, Toksoy G, Altunoglu U, Ozgur H, Basaran S, Kayserili H (2015) A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations. Eur J Med Genet 58:358–363

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiodiagnosis, Faculty of Medicine, Ain-Shams University, Abbasia, Cairo, 11657, Egypt

    Shaimaa Abdelsattar Mohammad & Tougan Taha Abdelaziz

  2. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

    Mohamed I. Gadelhak, Hanan H. Afifi & Ghada M. H. Abdel-Salam

Authors
  1. Shaimaa Abdelsattar Mohammad
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tougan Taha Abdelaziz
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mohamed I. Gadelhak
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Hanan H. Afifi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ghada M. H. Abdel-Salam
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Shaimaa Abdelsattar Mohammad.

Ethics declarations

Funding

No funding was received for this study.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This study was performed in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study formal consent is not required.

Informed consent

For this type of retrospective study formal consent is not required.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Mohammad, S.A., Abdelaziz, T.T., Gadelhak, M.I. et al. Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies. Neuroradiology 60, 1053–1061 (2018). https://doi.org/10.1007/s00234-018-2063-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00234-018-2063-8

Keywords

Search

Navigation