RESUMO
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.
Assuntos
Feminino , Humanos , Recém-Nascido , Encéfalo , Corioide , Nervo Coclear , Coloboma , Anormalidades Congênitas , Doenças dos Nervos Cranianos , Nervos Cranianos , Ecocardiografia , Epiglote , Potenciais Evocados Auditivos do Tronco Encefálico , Paralisia Facial , Refluxo Gastroesofágico , Comunicação Interatrial , Laringomalácia , Imageamento por Ressonância Magnética , Processo Mastoide , Mastoidite , Otite Média , Paralisia , Retinopatia da Prematuridade , Osso Temporal , Nervo VestibulococlearRESUMO
Septo-optic dysplasia, first described by de Morsier in 1956, is an uncommon congenital midline structural abnormality of the brain, including agenesis of septum pellucidum, primitive optic ventricle and dysplasia of the optic chiasm, optic nerves, and infundibulum. Agenesis of septum pellucidum, initially thought to be an integral part of this syndrome, is inconstant and not an essential part of the disorder. Also, it reveals a variable spectrum of associated abnormalities in disturbed hypothalamic-pituitary function. We recently experienced 3 patients of septo-optic dysplasia who showed bilateral optic disc hypoplasia clinically and midline structural abnormalities in computerized tomography(CT) or magnetic resonance imaging(MRI).