Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings (original) (raw)
Abstract
We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome.
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References
- Alagille D, Odievre M, Gautier M, et al (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 86:63–71
Article PubMed CAS Google Scholar - Alagille D, Estrada A, Hadchouel M, et al (1987) Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 110:195–200
Article PubMed CAS Google Scholar - Crosnier C, Lykavieris P, Meunier-Rotival M, et al (2000) Alagille syndrome. The widening spectrum of arteriohepatic dysplasia. Clin Liver Dis 4:765–778
Article PubMed CAS Google Scholar - Okuno T, Takahashi H, Shibahara Y, et al (1990) Temporal bone histopathologic findings in Alagille’s syndrome. Arch Otolaryngol Head Neck Surg 116:217–220
PubMed CAS Google Scholar - Guyot JP, Gacek RR, DiRaddo P, et al (1987) The temporal bone anomaly in CHARGE association. Arch Otolaryngol Head Neck Surg 113:321–324
PubMed CAS Google Scholar - Sando I, Bergstrom L, Wood RP 2nd, et al (1970) Temporal bone findings in trisomy 18 syndrome. Arch Otolaryngol 91:552–559
PubMed CAS Google Scholar - Higashi K, Matsuki C, Sarashina N, et al (1992) Aplasia of posterior semicircular canal in Waardenburg syndrome type II. J Otolaryngol 21:262–264
PubMed CAS Google Scholar - Li L, Krantz ID, Deng Y, et al (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243–251
Article PubMed CAS Google Scholar - Kiernan AE, Ahituv N, Fuchs H, et al (2001) The Notch ligand Jagged1 is required for inner ear sensory development. Proc Natl Acad Sci U S A 98:3873–3878
Article PubMed CAS Google Scholar
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Authors and Affiliations
- Department of Radiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA
Bernadette Koch & John Egelhoff - Family Practice, Tripler Army Medical Center, Honolulu, HI, USA
Amy Goold - Department of Radiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, USA
Corning Benton
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- Bernadette Koch
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Correspondence toBernadette Koch.
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Koch, B., Goold, A., Egelhoff, J. et al. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.Pediatr Radiol 36, 977–979 (2006). https://doi.org/10.1007/s00247-006-0230-2
- Received: 24 February 2006
- Revised: 12 April 2006
- Accepted: 18 April 2006
- Published: 08 June 2006
- Issue Date: September 2006
- DOI: https://doi.org/10.1007/s00247-006-0230-2