Hirschsprung’s disease presenting as intractable anemia: Rev
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Hirschsprung’s disease (HD), also known as congenital megacolon, is an absence of the enteric neurons. It is a common gastrointestinal malformation in pediatrics, with an incidence of 1 per 5000 newborns. Most patients with HD are diagnosed during the neonatal period due to intestinal obstructions. This report summarizes the clinical characteristics of intractable anemia as part of the clinical presentation of Hirschsprung’s disease (HD) and aims to strengthen clinicians ability to recognize early signs of HD.

An 11-year-old boy with a 6-year history of intractable anemia, low hemoglobin level (55 g/L), poor response to oral iron supplementation and blood transfusion, and difficulty with defecation was diagnosed with HD. A 19-month-old boy with a 3-month history of intractable anemia, low hemoglobin level (64 g/L), poor response to oral iron supplementation and blood transfusion, delayed meconium passage, and history of intestinal obstruction was also diagnosed with HD. Both patients underwent surgery, after which anemia was corrected effectively in both cases.

Intractable anemia as part of the clinical presentation of HD is extremely rare. Detailed inquiries of medical histories and physical examinations are key to early diagnosis and preventing misdiagnosis. Anemia in HD patients may primarily be caused by impaired iron absorption due to HD.

Source: https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-020-02423-z
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