PICTURES IN DIGESTIVE PATHOLOGY

 

Hirschprung's disease in adults

Enfermedad de Hirschprung del adulto

 

 

Carlos Fortea-Sanchis, David Martínez-Ramos, Isabel Rivadulla-Serrano, José María Daroca-José, Gabriel Paiva-Coronel and José Luis Salvador-Sanchis

Department of General and Digestive Surgery. Hospital General de Castellón. Spain

 

 

Case report

A 19-year-old man came to the emergency room because of diarrhea of 4 weeks duration, accompanied by constipation. As background, he reported fecal incontinence with encopresis since he was 12 year-old, initially ascribed to a child psychiatric disorder. Physical examination revealed an important thinness (BMI 18,51 kg/m²) and a large mass in the left abdomen, of hard consistency, mobile, and painless. Abdomen X-ray examination showed large dilatation of descending colon, with distal air. Computed tomography (Fig. 1) disclosed a highly dilated sigmoid colon containing feces inside; the distal portion of the rectum was normal. These radiological images were consistent with Hirschsprung's disease; for this reason, we extracted surgically the fecal mass through the anus. After that, the palpable mass disappeared, but clinical constipation persisted. Later, a barium enema (Fig. 2) was carried out and results were compatible with that disease. Therefore, a full thickness rectal biopsy was performed, where ganglion cells were absent (Fig. 3), what confirmed the diagnosis. He is awaiting surgical intervention.

Discussion

Some authors (1-3) have maintained that Hirschsprung's disease in adults probably correspond to congenital cases not diagnosed previously, and consequently it is likely that, in fact, adult Hirschsprung's disease does not really exist as an independent entity.

Although, this is an uncommon cause of chronic constipation in adults (4), it should be considered in the differential diagnosis of this entity in similar clinical cases, as the herein presented. Undoubtedly, it represents a diagnostic and therapeutic challenge.

 

References

1. Haricharan RN, Georgeson KE. Hirschsprung disease. Semin Pediatr Surg. 2008;17:266-75.         [ Links ]

2. Chen F, Winston III JH, Jain SK, Frankel WL. Hirschsprung's disease in a young adult: report of a case and review of the literature. Ann Diagn Pathol 2006;10:347-51.         [ Links ]

3. Chatelain D, Manaouil C, Marc B, Ricard J, Brevet M, Montpellier D, et al. Adult Hirschsprung's disease diagnosed during forensic autopsy. J Forensic Sci 2006;51:1160-3.         [ Links ]

4. Yüksel I, Ataseven I, Ertu rul I, Ba ar O, a maz N. Adult segmental Hirschsprung disease. South Med J 2009;102:184-5.         [ Links ]