A Case of Peutz-Jeghers Syndrome Complicated With Hirschsprung Disease

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.