Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum.

Abstract

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.

• Authors: R Manara, D Brotto, S Ghiselli, R Mardari, I Toldo, G Schifano, E Cantone, R Bovo, A Martini
• Journal: AJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) Vol. 36 Issue 7 Pg. 1375-80 (Jul 2015) ISSN: 1936-959X [Electronic] United States
• PMID: 25814660 (Publication Type: Journal Article)
• Copyright: © 2015 by American Journal of Neuroradiology.

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Cranial Nerves (abnormalities)
• Female
• Goldenhar Syndrome (pathology)
• Humans
• Infant
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Phenotype
• Tomography, X-Ray Computed
• Young Adult