# A Case of Peutz-Jeghers Syndrome Complicated With Hirschsprung Disease

## TL;DR

This paper reports a rare case where Peutz-Jeghers Syndrome was complicated by Hirschsprung Disease, emphasizing the need to consider additional hereditary conditions in patients with gastrointestinal symptoms.

## Contribution

The paper presents the first documented case of Peutz-Jeghers Syndrome complicated by Hirschsprung Disease.

## Key findings

- The patient had intractable constipation since infancy, but Hirschsprung Disease was diagnosed only after a delay.
- Peutz-Jeghers Syndrome may mask the presence of Hirschsprung Disease, leading to delayed diagnosis.
- The case underscores the importance of considering additional hereditary diseases in patients with atypical gastrointestinal symptoms.

## Abstract

We report the first documented case of Peutz-Jeghers syndrome (PJS) complicated by Hirschsprung disease (HD). Despite the patient having intractable constipation since the neonatal period, the diagnosis of HD was significantly delayed due to the earlier diagnosis of PJS in infancy, which masked the presence of HD. This case highlights the importance of considering the possibility of an additional hereditary disease when a patient with a known hereditary gastrointestinal disease develops gastrointestinal symptoms that are atypical for that disease.