The combination of Hirschsprung's disease and achalasia

Sven Kohler, Guido Fitze, Stuart Hosie, Lukas Wessel, Stephan Holland-Cunz*

*Corresponding author for this work
3 Citations (Scopus)


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.

Original languageEnglish
JournalJournal of Pediatric Surgery
Issue number2
Publication statusPublished - 01.01.2005

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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