title: The combination of Hirschsprung's disease and achalasia.
abstract: The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2-related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.
authors.affiliation: Department of Pediatric Surgery in Mannheim, University of Heidelberg, 68167 Mannheim, Germany.
authors.forename: Sven
authors.initials: S
authors.lastname: Kohler
authors.forename: Guido
authors.initials: G
authors.lastname: Fitze
authors.forename: Stuart
authors.initials: S
authors.lastname: Hosie
authors.forename: Lukas
authors.initials: L
authors.lastname: Wessel
authors.forename: Stephan
authors.initials: S
authors.lastname: Holland-Cunz
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004931:Esophageal Achalasia / Q000209:etiology* / Q000601:surgery; D018095:Germ-Line Mutation; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007223:Infant; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics; D020125:Mutation, Missense; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics
chemical_list: D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human