Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
- PMID: 22505969
- PMCID: PMC3318873
- DOI: 10.4021/jocmr2009.04.1234
Schatzki's Ring in Angelman Syndrome: A Diagnostic Dilemma in Neurodevelopmentally Disabled Patients
Abstract
Angelman Syndrome is a neurodevelopmental condition with a characteristic phenotype that includes epilepsy and lack of communication. We describe its first reported association with Schatzki's ring that presented as a life-long history of intermittent retching. Because of associated cognitive dysfunction, careful diagnostic consideration is required to detect this underlying condition.
Keywords: Schatzki's ring; Angelman Syndrome; Esophageal "B" ring; Barium esophagogram; Neurodevelopmental delay; Retching.
Similar articles
-
Analysis of thirty-two patients with Schatzki's ring.Am J Surg. 1989 Dec;158(6):563-6. doi: 10.1016/0002-9610(89)90193-1. Am J Surg. 1989. PMID: 2589590
-
Schatzki's ring: long-term results following dilation.Gastrointest Endosc. 1990 Sep-Oct;36(5):479-81. doi: 10.1016/s0016-5107(90)71119-4. Gastrointest Endosc. 1990. PMID: 2227319
-
Schatzki's ring. An unusual clinical and radiological presentation.Saudi Med J. 2005 Mar;26(3):467-9. Saudi Med J. 2005. PMID: 15806221
-
Lower esophageal (Schatzki's) ring: pathogenesis, diagnosis and therapy.Dig Dis. 1996 Sep-Oct;14(5):323-9. doi: 10.1159/000171563. Dig Dis. 1996. PMID: 8902418 Review.
-
Schatzki's ring: a benign cause of dysphagia in adults.J Clin Gastroenterol. 2002 Oct;35(4):295-8. doi: 10.1097/00004836-200210000-00004. J Clin Gastroenterol. 2002. PMID: 12352291 Review.
References
-
- Angelman H. "Puppet children". A report of three cases. Dev Med Child Neurol. 1965;7:681–688.
-
- Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet. 1987;28(4):829–838. - PubMed
-
- Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE. et al. Angelman syndrome: consensus for diagnostic criteria.Angelman Syndrome Foundation. Am J Med Genet. 1995;56(2):237–238. - PubMed
-
- Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE. et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006;140(5):413–418. - PubMed
-
- Schatzki R, Gary JE. Dysphagia due to a diaphragm-like localized narrowing in the lower esophagus (lower esophageal ring) Am J Roentgenol Radium Ther Nucl Med. 1953;70(6):911–922. - PubMed
Publication types
LinkOut - more resources
Full Text Sources