PT  - JOURNAL ARTICLE
AU  - Manara, R.
AU  - Brotto, D.
AU  - Ghiselli, S.
AU  - Mardari, R.
AU  - Toldo, I.
AU  - Schifano, G.
AU  - Cantone, E.
AU  - Bovo, R.
AU  - Martini, A.
TI  - Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum
AID  - 10.3174/ajnr.A4273
DP  - 2015 Jul 01
TA  - American Journal of Neuroradiology
PG  - 1375--1380
VI  - 36
IP  - 7
4099  - http://www.ajnr.org/content/36/7/1375.short
4100  - http://www.ajnr.org/content/36/7/1375.full
SO  - Am. J. Neuroradiol.2015 Jul 01; 36
AB  - BACKGROUND AND PURPOSE: Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients.MATERIALS AND METHODS: Twenty-nine patients with oculo-auriculo-vertebral spectrum (mean age, 7 years; age range, 0.2–31 years; 12 females) underwent brain MR imaging, CT, and neurologic evaluation; 19 patients had a more severe phenotype (Goldenhar syndrome).RESULTS: Cranial nerve abnormalities were detected only in patients with Goldenhar syndrome (17/19, bilaterally in 8) and were involved the second (4/19), third (1/18), fifth (11/19), sixth (8/16), seventh (11/18), and eighth (8/18) cranial nerves. Multiple cranial nerve abnormalities were common (11/17). Eleven patients showed bone foramina abnormalities. Trigeminal and facial nerve dysfunctions were common (44% and 58%, respectively), especially in patients with Goldenhar syndrome. Trigeminal abnormalities showed a good correlation with ipsilateral dysfunction (P = .018), which further increased when bone foramina abnormalities were included. The facial nerve showed a trend toward correlation with ipsilateral dysfunction (P = .081). Diplopia was found only in patients with Goldenhar syndrome and was associated with third and sixth cranial nerve abnormalities (P = .006).CONCLUSIONS: Among patients with oculo-auriculo-vertebral spectrum, cranial nerve morphologic abnormalities are common, correlate with phenotype severity, and often entail a functional impairment. The spectrum of cranial nerve abnormalities appears wider than simple hypo-/aplasia and includes an anomalous cisternal course and partial/complete fusion of diverse cranial nerves.CNcranial nerveOAVSoculo-auriculo-vertebral spectrum