The combination of Hirschsprung's disease and achalasia.
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.
Kohler
Sven
S
Department of Pediatric Surgery in Mannheim, University of Heidelberg, 68167 Mannheim, Germany.
Fitze
Guido
G
Hosie
Stuart
S
Wessel
Lukas
L
Holland-Cunz
Stephan
S
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
D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human