Abstract
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.
Methods
Sixteen patients with PTCD and diagnostic quality imaging were retrospectively reviewed. All patients had high-resolution MR of the brain and/or internal auditory canals, and seven patients had additional high-resolution CT of the temporal bones. Studies were evaluated by two pediatric neuroradiologists for cranial nerve and temporal bone anomalies.
Results
Fifteen of 16 patients (94 %) had duplication of one or both internal auditory canals. Of the 24 total duplicated internal auditory canals, all 24 (100 %) demonstrated stenosis or atresia of the vestibulocochlear nerve canal, as well as ipsilateral vestibulocochlear nerve aplasia. Of the non-duplicated internal auditory canals, 63 % (5/8) were atretic or stenotic. Thirty-eight percent (3/8) were associated with absent vestibulocochlear nerve, and 38 % (3/8) demonstrated isolated cochlear nerve aplasia. Twenty-five percent (2/8) demonstrated normal vestibulocochlear nerves, both in the same patient. Fifteen of 16 patients overall (94 %) demonstrated bilateral cochlear nerve aplasia. Of the 32 total temporal bones, 4 (13 %) demonstrated facial nerve aplasia. Seventy-nine percent (22/28) of facial nerves that were present demonstrated an aberrant origin or course.
Conclusion
Patients with PTCD have highly characteristic temporal bone and cranial nerve findings on both CT and MR. Recognition of these findings is important for improved diagnosis of this rare disorder, particularly by CT.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
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):2258–66
Maeoka Y, Yamamoto T, Ohtani K et al (1997) Pontine hypoplasia in a child with sensorineural deafness. Brain Dev 19(6):436–9
Ouanounou S, Saigal G, Birchansky S (2005) Möbius syndrome. AJNR Am J Neuroradiol 26(2):430–2
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):113–9
Rauscher C, Poretti A, Neuhann TM et al (2009) Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics 40(1):43–6
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):1972–9
Bacciu A, Ormitti F, Pasanisi E et al (2010) Cochlear implantation in pontine tegmental cap dysplasia. Int J Pediatr Otorhinolaryngol 74(8):962–6
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):69–74
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):1835
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 6:36
Desai NK, Young L, Miranda MA et al (2011) Pontine tegmental cap dysplasia: the neurotologic perspective. Otolaryngol Head Neck Surg 145(6):992–8
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):e73–4
Rudaks LI, Patel S, Barnett CP (2012) Novel clinical features in pontine tegmental cap dysplasia. Pediatr Neurol 46(6):393–6
Vincenti V, Ormitti F, Ventura E (2014) Partitioned versus duplicated internal auditory canal: when appropriate terminology matters. Otol Neurotol 35(7):1140–4
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):434–8
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):171–4
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):93–7
Singh D, Hsu CC, Kwan GN et al (2015) Pontine tegmental cap dysplasia: MR evaluation of vestibulocochlear neuropathy. J Neuroimaging
Olivares FP, Schuknecht HF (1979) Width of the internal auditory canal. A histological study. Ann Otol Rhinol Laryngol 88(3 Pt 1):316–23
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):469–75
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):831–7
Sennaroglu L, Saatci I (2002) A new classification for cochleovestibular malformations. Laryngoscope 112(12):2230–41
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):1439–46
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):1133–8
Stjernholm C, Muren C (2002) Dimensions of the cochlear nerve canal: a radioanatomic investigation. Acta Otolaryngol 122(1):43–8
Guthrie S (2007) Patterning and axon guidance of cranial motor neurons. Nat Rev Neurosci 8(11):859–71
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):773–9
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):22–30
Acknowledgments
We wish to thank the patients and families whose participation made this research possible, as well as the generous supporters of the University of Washington Hindbrain Malformation Research Program.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Compliance with ethical standards
We declare that all human and animal studies have been approved by the University of Washington Institutional Review Board and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. We declare that all patients or their legal guardians gave informed consent prior to inclusion in this study.
Conflict of interest
We declare that we have no conflict of interest.
Electronic supplementary material
Below is the link to the electronic supplementary material.
ESM 1
(PDF 49 kb)
Rights and permissions
About this article
Cite this article
Nixon, J.N., Dempsey, J., Doherty, D. et al. Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia. Neuroradiology 58, 179–187 (2016). https://doi.org/10.1007/s00234-015-1604-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00234-015-1604-7