Brotto Davide1, Manara Renzo2, Ghiselli Sara3, Lovo Elisa3, Mardari Rodica4, Toldo Irene5, Castiglione Alessandro3, Schifano Giovanni3, Stritoni Valentina6, Bovo Roberto3, Trevisi Patrizia3, Martini Alessandro3. 1. Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. davidebrotto@hotmail.it. 2. Neuroradiology, Sezione di Neuroscienze, University of Salerno, Salerno, Italy. 3. Department of Neurosciences, Otorhinolaryngology Unit, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. 4. Neuroradiology, University Hospital of Padova, Padova, Italy. 5. Pediatric Neurology Unit, Department of Woman's and Child's Health, University of Padova, Padova, Italy. 6. TIPED, Department of Pediatrics, University of Padova, Padova, Italy.
Abstract
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome). Internal carotid artery hypoplasia/agenesia and abnormal course, brain abnormalities, internal acoustic canal stenosis/aplasia, cochlear-vestibular malformations, facial nerve bony canal anomalies, and oval window atresia were recorded. RESULTS: Nine of 35 (26%) OAVS patients showed internal carotid artery anomalies; 18/32 (56%) had protean brain MRI abnormalities, ranging from tegmental cap anomaly to mild ventriculomegaly, which were associated with Goldenhar syndrome (p < 0.001) and concomitant cranial nerve abnormalities (p = 0.004); 11/35 (31%) disclosed cochlear-vestibular abnormalities including Michel deformity, common cavity, cochlear hypoplasia, and incomplete partition type-1 that were associated with Goldenhar syndrome (p = 0.01) and ipsilateral VIII cranial nerve abnormalities (p < 0.001); 16/35 (46%, 23 sides) presented facial nerve bony canal abnormalities that were associated with Goldenhar syndrome (p < 0.001) and ipsilateral VII cranial nerve (p < 0.001) and cochlear-vestibular (p < 0.001) abnormalities; and 23/31 (74%, 31 sides) showed oval window atresia, always with concomitant ossicular chain dysplasia. CONCLUSIONS: Intracranial vascular, bone, and brain abnormalities in OAVS patients are strikingly common and heterogeneous. As their detection might impact significantly on clinical and surgical management of affected patients, accurate neuroimaging investigations should be included in the diagnostic work-up of OAVS.
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVSpatients. METHODS: Thirty-five OAVSpatients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome). Internal carotid artery hypoplasia/agenesia and abnormal course, brain abnormalities, internal acoustic canal stenosis/aplasia, cochlear-vestibular malformations, facial nerve bony canal anomalies, and oval window atresia were recorded. RESULTS: Nine of 35 (26%) OAVSpatients showed internal carotid artery anomalies; 18/32 (56%) had protean brain MRI abnormalities, ranging from tegmental cap anomaly to mild ventriculomegaly, which were associated with Goldenhar syndrome (p < 0.001) and concomitant cranial nerve abnormalities (p = 0.004); 11/35 (31%) disclosed cochlear-vestibular abnormalities including Michel deformity, common cavity, cochlear hypoplasia, and incomplete partition type-1 that were associated with Goldenhar syndrome (p = 0.01) and ipsilateral VIII cranial nerve abnormalities (p < 0.001); 16/35 (46%, 23 sides) presented facial nerve bony canal abnormalities that were associated with Goldenhar syndrome (p < 0.001) and ipsilateral VII cranial nerve (p < 0.001) and cochlear-vestibular (p < 0.001) abnormalities; and 23/31 (74%, 31 sides) showed oval window atresia, always with concomitant ossicular chain dysplasia. CONCLUSIONS: Intracranial vascular, bone, and brain abnormalities in OAVSpatients are strikingly common and heterogeneous. As their detection might impact significantly on clinical and surgical management of affected patients, accurate neuroimaging investigations should be included in the diagnostic work-up of OAVS.
Authors: R Manara; D Brotto; S Ghiselli; R Mardari; I Toldo; G Schifano; E Cantone; R Bovo; A Martini Journal: AJNR Am J Neuroradiol Date: 2015-03-26 Impact factor: 3.825
Authors: M Pane; G Baranello; D Battaglia; V Donvito; F Carnevale; M C Stefanini; F Guzzetta; E Mercuri; E Bertini Journal: Neuropediatrics Date: 2004-08 Impact factor: 1.947
Authors: Renee Frances Modica; L Daphna Yasova Barbeau; Jennifer Co-Vu; Richard D Beegle; Charles A Williams Journal: Case Rep Pediatr Date: 2015-11-25