摘要
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 amutation 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.
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 amutation 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.
