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.
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© 2005 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
