J Korean Ophthalmol Soc.  2009 Oct;50(10):1600-1604. 10.3341/jkos.2009.50.10.1600.

Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

• Cho HK
• Jee DH

• KMID: 2212783
• DOI: http://doi.org/10.3341/jkos.2009.50.10.1600

Abstract

PURPOSE
To report a case of bilateral congenital optic disc coloboma associated with the right seventh and eighth cranial nerve palsy. CASE SUMMARY: A female neonate with right facial palsy (seventh cranial nerve palsy) and right earlobe hypoplasia was referred for examination for retinopathy of prematurity (ROP). Bilateral optic disc coloboma and peripapillary choroidal defect was detected on the fundus examination and the anterior segment examination revealed no specific findings. On the otolaryngologic examination, laryngomalacia and floppy epiglottis were observed and left otitis media and mastoiditis were noted on the temporal bone computed tomography (CT). On the auditory brain stem response (ABR), right electro-potential was not detected and right cochlear nerve palsy (eighth cranial nerve palsy) was diagnosed. Further chromosomal analysis and brain magnetic resonance imaging (MRI) revealed no abnormal findings. However, on echocardiography, an atrial septal defect was detected and on upper gastrointestinal series, gastroesophageal reflux disease (GERD) was diagnosed.
CONCLUSIONS
Congenital optic disc coloboma is frequently accompanied by other congenital deformities or abnormalities, and therefore, systemic examinations and tests to detect associated findings are required.

Keyword

Congenital coloboma; Cranial Nerve Palsy; Optic disc hypoplasia

MeSH Terms

Brain
Choroid
Cochlear Nerve
Coloboma
Congenital Abnormalities
Cranial Nerve Diseases
Cranial Nerves
Echocardiography
Epiglottis
Evoked Potentials, Auditory, Brain Stem
Facial Paralysis
Female
Gastroesophageal Reflux
Heart Septal Defects, Atrial
Humans
Infant, Newborn
Laryngomalacia
Magnetic Resonance Imaging
Mastoid
Mastoiditis
Otitis Media
Paralysis
Retinopathy of Prematurity
Temporal Bone
Vestibulocochlear Nerve

Figure

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  Figure 1. Fundus photographs showing bilateral optic disc coloboma and peripapillary choroidal defect (A=right; B=left).

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  Figure 2. Temporal bone CT scan demonstrating left otitis media (upper arrow) and mastoiditis (lower arrow).

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  Figure 3. Auditory brain stem response showing absence of the right electropotential (left), which indicates right cochlear nerve palsy.

Reference

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