Davide Brotto1, Renzo Manara2, Stefania Vio3, Sara Ghiselli4, Elena Cantone5, Rodica Mardari6, Irene Toldo7, Valentina Stritoni8, Alessandro Castiglione4, Elisa Lovo4, Patrizia Trevisi4, Roberto Bovo4, Alessandro Martini4. 1. Department of Neurosciences, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. davide.brotto@aopd.veneto.it. 2. Neuroradiology, Sezione di Neuroscienze, University of Salerno, Salerno, Italy. 3. Radiology Unit, Azienda Ospedaliera di Padova, Padova, Italy. 4. Department of Neurosciences, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. 5. ENT section, Neurosciences Department, Federico II, Naples, Italy. 6. Neuroradiology, University Hospital of Padova, Padova, Italy. 7. Pediatric Neurology Unit, Department of Woman's and Child's Health, University of Padova, Padova, Italy. 8. TIPED, Department of Pediatrics, University of Padova, Padova, Italy.
Abstract
BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls. RESULTS: All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p < 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p < 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p < 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p > 0.6). CONCLUSIONS: Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.
BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVSpatients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVSpatients (16 with severe phenotype, Goldenhar syndrome) and 11 controls. RESULTS: All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVSpatients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVSpatients, all with concomitant ipsilateral severe involvement of the parotid gland (p < 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p < 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p < 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p > 0.6). CONCLUSIONS:Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.
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