SciELO - Scientific Electronic Library Online

 
vol.30 número1Caso clínico dermatológicoCaso clínico de Gastrenterologia índice de autoresíndice de assuntosPesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Nascer e Crescer

versão impressa ISSN 0872-0754versão On-line ISSN 2183-9417

Nascer e Crescer vol.30 no.1 Porto mar. 2021  Epub 31-Jan-2021

https://doi.org/10.25753/birthgrowthmj.v30.i1.18956 

Imaging cases

Imaging clinical case

Caso clínico imagiológico

Catarina Cristina1 

Inês Serras1 

Ema Santos2 

Rui Alves2 

Dulce Serrano1 

1 Department of Pediatrics, Unidade de Portimão, Centro Hospitalar Universitário do Algarve. 8500-338 Portimão, Portugal, catarina.ccristina@gmail.com; inesserrasped@gmail.com; dulce_serrano02@hotmail.com

2 Department of Pediatrics Surgery, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central. 1169-045 Lisboa, Portugal, ema_js24@hotmail.com; ruialves252@gmail.com


Abstract

Hirschsprung disease is the most common congenital gut motility disorder and usually diagnosed in the neonatal period. It is caused by an aganglionic bowel segment resulting in absence of intestinal peristalsis and functional obstruction. Diagnosis should be considered in all patients with constipation that does not respond to conventional treatment. Radiography and contrast enema are important diagnostic exams, but the definitive diagnosis is established through histochemical analysis of aganglionic segment biopsy. Treatment is surgical and early recognition is important to avoid complications and improve prognosis.

Herein is reported the clinical case of a young infant presenting to the Pediatric Emergency Department with nausea, vomiting, constipation, refusal to feed, and important abdominal distension. Abdominal radiograph and contrast enema were compatible with Hirschsprung disease. Biopsy histochemical analysis confirmed the diagnosis and surgical treatment was performed.

Keywords: contrast enema; Hirschsprung disease; intestinal obstruction; meconium

Resumo

A doença de Hirschsprung é o distúrbio congénito de motilidade intestinal mais comum e habitualmente diagnosticado no período neonatal. É causado por um segmento intestinal aganglionar, que leva a ausência de peristaltismo intestinal e obstrução funcional. O diagnóstico deve ser considerado em todos os doentes com obstipação sem resposta ao tratamento convencional. A radiografia e o enema com contraste são exames importantes para o diagnóstico, mas este só é definitivamente estabelecido por análise histoquímica da biópsia do segmento aganglionar. O tratamento é cirúrgico e o reconhecimento precoce da doença é importante para evitar complicações e melhorar o prognóstico.

É reportado o caso clínico de um lactente que se apresentou no Serviço de Urgência Pediátrica com náuseas, vómitos, obstipação, recusa alimentar e uma importante distensão abdominal. A radiografia abdominal e o enema com contraste foram compatíveis com doença de Hirschsprung. A análise histoquímica da biópsia confirmou o diagnóstico e foi efetuado tratamento cirúrgico.

Palavras-chave: clister opaco; doença de Hirschsprung; mecónio; obstrução intestinal

A two-month-old, previously healthy male infant was admitted to the pediatric Emergency Department with nausea, vomiting, constipation, and refusal to feed for two days. In the neonatal period, meconium passage with stimulation occurred at 18 hours of life. On admission, the infant had an important abdominal distension, bowel sounds, and painless abdominal palpation, with no palpable masses. Abdominal radiograph revealed exuberant bowel distension (Figure 1), with slight improvement after rectal decompression and exit of thick stools without blood or mucus. Contrast enema showed a recto-sigmoid transition zone with caliber inversion between the rectum and sigmoid (Figure 2).

What is your diagnosis?

Diagnosis

Hirschsprung disease

Patient orientation

Contrast enema showed a recto-sigmoid transition zone (anatomical transition between the narrow distal aganglionic segment and the dilated proximal ganglionic segment), a pathognomonic finding of Hirschsprung disease (Figure 2). At seven months of age, extemporaneous histochemical analysis of sequential colonic biopsies revealed absence of ganglion cells in the sigmoid, compatible with Hirschsprung disease, and Swenson’s pull-through was performed (Figure 3).

Figure 1 Abdominal radiograph showing severe bowel dilatation 

Figure 2 Contrast enema showing a transition zone in the rectosigmoid junction 

Figure 3 Surgical images: a) Transition zone (arrow); b) Swenson procedure 

Discussion

Hirschsprung disease is the most common congenital gut motility disorder, with a reported incidence of approximately one in every 5,000 live births and male preponderance (4:1).1-3 It is caused by failure of neural crest cell migration during intestinal development in fetal life or failure of neural crest cells to differentiate into mature ganglion cells, resulting in an aganglionic bowel segment that leads to absent intestinal peristalsis and functional obstruction upstream of the aganglionic zone.1-5 Rectum and sigmoid colon are the most affected segments.1-5 Diagnosis is suggested by meconium passage delay or history of constipation that does not respond to conventional treatment.1-5 Imaging exams, namely radiography and contrast enema, are important tools for early diagnosis.1-4 The definitive diagnosis is established through histochemical analysis of aganglionic segment biopsy showing absence of ganglion cells in the submucosal and myenteric plexus and, in most patients, hypertrophied nerve trunks.1

Hirschsprung disease treatment is surgical and involves resection of the aganglionic segment of the colon and reconstruction of the intestinal tract by bringing down the normal ganglionic bowel to the anus.2-5

Early recognition of this entity is important to avoid complications, such as Hirschsprung-associated enterocolitis, a potentially fatal pathology.1-5

Lessons from this clinical case

Hirchsprung disease is a congenital disorder that most commonly presents in the neonatal period as intestinal obstruction.

Diagnosis should be considered in all neonates or children with constipation that does not respond to conventional treatment.

Imaging exams are important tools for early diagnosis.

Early diagnosis decreases complications, improves prognosis, and positively impacts patients’ quality of life.

References

1. Nunes I. Doença de Hirschsprung. Trabalho Final do Mestrado Integrado em Medicina. Faculdade de Medicina de Lisboa. 2015/2016. [ Links ]

2. Langer J. Hirchsprung Disease. Curr Opin Pediatr. 2013; 25:368-74. [ Links ]

3. Wetherill C, Sutcliffe J. Hirchsprung Disease and anorectal malformation. Early Human Development. 2014; 90:927-32. [ Links ]

4. Romaneli M, Ribeiro A, Bustorff-Silva J, Carvalho R, Lomazi E. Hirchsprung disease - Postsurgical intestinal dysmotality. Rev Paul Pediatr. 2016; 34:388-92. [ Links ]

5. Wesson D, Lopez M. Congenital aganglionic megacolon (Hirchsprung Disease). Singer J, Hoppin A (editor). UptoDate 2018. [Consulted in August 2019]. Available in: https://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease. [ Links ]

Received: November 26, 2019; Accepted: June 22, 2020

Correspondence to Catarina Cristina Department of Pediatrics Unidade de Portimão Centro Hospitalar Universitário do Algarve Sítio do Poço Seco 8500-338 Portimão Email: catarina.ccristina@gmail.com

Creative Commons License This is an open-access article distributed under the terms of the Creative Commons Attribution License