Abstract
A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism. This case might imply a possible relationship between Takayasu arteritis and Alagille syndrome.
This is a preview of subscription content, log in via an institution to check access.
References
Arend WP, Michel BA, Bloch DA, Hunder GG, Calabrese LH, Edworthy SM, Fauci AS, Leavitt RY, Lie JT, Lightfoot RW Jr et al (1990) The American college of Rheumatology 1990 criteria for the classification of Takayasu arteritis. Arthritis Rheum 33:1129–1134
Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP (1987) Syndromic paucity of interlobular bile ducts (Alagille sydrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 110:195–200
Bates MD, Deutsch GH (2003) Molecular insights into congenital disorders of the digestive system. Pediatr Dev Pathol 6:284–298
Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID (2004) Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 109:1354–1358
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M (2001) Jagged1 mutations in Alagille syndrome. Hum Mutat 17:18–33
Krantz ID, Piccoli DA, Spinner NB (1997) Alagille syndrome. J Med Genet 34:152–157
McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E (2002) Analysis of cardiovascular phenotype and genotype–phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106:2567–2574
Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker AJ, Mieli-Vergani G, Bird AC, Aclimandos WA (1996) Ocular abnormalities in Alagille syndrome. Ophthalmology 106:330–337
Ozeki H, Shiari S, Majima A, Sano M, Ikeda K (1997) Clinical evaluation of posterior embryotoxon in one institution. Jpn J Ophthalmol 41:422–425
Chun YS, Park SJ, Park IK, Chung H, Lee J (2001) The clinical and ocular manifestations of Takayasu arteritis. Retina 21:132–140
Taybi H (1996) Syndromes. In: Taybi H, Lachman RS (ed) Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th edn. Mosby, St Louis, pp 15–17
Harper JA, Yuan JS, Tan JB, Visan I, Guidos CJ (2003) Notch signaling in development and disease. Clin Genet 64:461–472
Connor SEJ, Hewes D, Ball C, Jarosz JM (2002) Alagille syndrome associated with angiographic moyamoya. Childs Nerv Syst 18:186–190
Woolfenden AR, Albers GW, Steiberg GK, Hahn JS, Johnston DCC, Farrell K (1999) Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy. Pediatrics 103:505–508
Berard E, Sarles J, Triolo V, Gagnadoux MF, Wernert F, Hadchouel M, Niaudet P(1998) Renovascular hypertension and vascular anomalies in Alagille syndrome. Pediatr Nephrol 12:121–124
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Kavukçu, S., Demir, K., Soylu, A. et al. A case of Takayasu disease with findings of incomplete Alagille syndrome. Rheumatol Int 25, 555–557 (2005). https://doi.org/10.1007/s00296-004-0557-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00296-004-0557-7