参考文献:1.Barth PG, Majoie CB, Caan MW et al (2007) Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 130(Pt 9):2258–66CrossRef PubMed 2.Maeoka Y, Yamamoto T, Ohtani K et al (1997) Pontine hypoplasia in a child with sensorineural deafness. Brain Dev 19(6):436–9CrossRef PubMed 3.Ouanounou S, Saigal G, Birchansky S (2005) Möbius syndrome. AJNR Am J Neuroradiol 26(2):430–2PubMed 4.Jissendi-Tchofo P, Doherty D, McGillivray G et al (2009) Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol 30(1):113–9CrossRef PubMed PubMedCentral 5.Rauscher C, Poretti A, Neuhann TM et al (2009) Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics 40(1):43–6CrossRef PubMed 6.Huang BY, Roche JP, Buchman CA et al (2010) Brain stem and inner ear abnormalities in children with auditory neuropathy spectrum disorder and cochlear nerve deficiency. AJNR Am J Neuroradiol 31(10):1972–9CrossRef PubMed 7.Bacciu A, Ormitti F, Pasanisi E et al (2010) Cochlear implantation in pontine tegmental cap dysplasia. Int J Pediatr Otorhinolaryngol 74(8):962–6CrossRef PubMed 8.Macferran KM, Buchmann RF, Ramakrishnaiah R et al (1997) Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. Semin Pediatr Neurol 17(1):69–74CrossRef 9.Szczaluba K, Szymanska K, Bekiesinska-Figatowska M et al (2010) Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration. Neurology 74(22):1835CrossRef PubMed 10.Briguglio M, Pinelli L, Giordano L et al (2011) Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis 6:36CrossRef PubMed PubMedCentral 11.Desai NK, Young L, Miranda MA et al (2011) Pontine tegmental cap dysplasia: the neurotologic perspective. Otolaryngol Head Neck Surg 145(6):992–8CrossRef PubMed 12.Leiva-Salinas C, Mukherjee S, Kesser BW et al (2012) Imaging case of the month: abnormalities of the cochlear nerves and internal auditory canals in pontine tegmental cap dysplasia. Otol Neurotol 33(9):e73–4CrossRef PubMed 13.Rudaks LI, Patel S, Barnett CP (2012) Novel clinical features in pontine tegmental cap dysplasia. Pediatr Neurol 46(6):393–6CrossRef PubMed 14.Vincenti V, Ormitti F, Ventura E (2014) Partitioned versus duplicated internal auditory canal: when appropriate terminology matters. Otol Neurotol 35(7):1140–4PubMed 15.Caan MW, Barth PG, Niermeijer JM et al (2014) Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia. Eur J Paediatr Neurol 18(3):434–8CrossRef PubMed 16.Chong PF, Haraguchi K, Torio M et al (2015) A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum. Brain Dev 37(1):171–4CrossRef PubMed 17.Jovanovic M, Chinnathambi MZ, Markovic I et al (2015) Pontine tegmental cap dysplasia: report of two new cases from Kuwait. Eur J Paediatr Neurol 19(1):93–7CrossRef PubMed 18.Singh D, Hsu CC, Kwan GN et al (2015) Pontine tegmental cap dysplasia: MR evaluation of vestibulocochlear neuropathy. J Neuroimaging 19.Olivares FP, Schuknecht HF (1979) Width of the internal auditory canal. A histological study. Ann Otol Rhinol Laryngol 88(3 Pt 1):316–23CrossRef PubMed 20.Sakashita T, Sando I (1995) Postnatal development of the internal auditory canal studied by computer-aided three-dimensional reconstruction and measurement. Ann Otol Rhinol Laryngol 104(6):469–75CrossRef PubMed 21.Shim HJ, Shin JE, Chung JW et al (2006) Inner ear anomalies in cochlear implantees: importance of radiologic measurements in the classification. Otol Neurotol 27(6):831–7CrossRef PubMed 22.Sennaroglu L, Saatci I (2002) A new classification for cochleovestibular malformations. Laryngoscope 112(12):2230–41CrossRef PubMed 23.Purcell DD, Fischbein NJ, Patel A et al (2006) Two temporal bone computed tomography measurements increase recognition of malformations and predict sensorineural hearing loss. Laryngoscope 116(8):1439–46CrossRef PubMed 24.Vijayasekaran S, Halsted MJ, Boston M et al (2007) When is the vestibular aqueduct enlarged? A statistical analysis of the normative distribution of vestibular aqueduct size. AJNR Am J Neuroradiol 28(6):1133–8CrossRef PubMed 25.Stjernholm C, Muren C (2002) Dimensions of the cochlear nerve canal: a radioanatomic investigation. Acta Otolaryngol 122(1):43–8CrossRef PubMed 26.Guthrie S (2007) Patterning and axon guidance of cranial motor neurons. Nat Rev Neurosci 8(11):859–71CrossRef PubMed 27.Albert S, Blons H, Jonard L (2006) SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 14(6):773–9CrossRef PubMed 28.Yang JJ, Tsai CC, Hsu HM et al (2005) Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res 99(1–2):22–30CrossRef
作者单位:Jason N. Nixon (1) (2) Jennifer C. Dempsey (3) Dan Doherty (3) Gisele E. Ishak (2)
1. M/S MA.7.220, Seattle Children’s Hospital, PO Box 5371, Seattle, WA, 98145, USA 2. Department of Radiology, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA 3. Department of Pediatrics, Divisions of Developmental and Genetic Medicine, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA
刊物类别:Medicine
刊物主题:Medicine & Public Health Neuroradiology Imaging and Radiology Neurology Neurosurgery Neurosciences
出版者:Springer Berlin / Heidelberg
ISSN:1432-1920
文摘
Introduction Pontine tegmental cap dysplasia (PTCD) is a recently described brain malformation associated with multiple cranial neuropathies, most commonly congenital sensorineural hearing loss. The purpose of this study is to systematically characterize the cranial nerve and temporal bone findings in a cohort of children with this rare condition.