Late diagnosis of Hirschsprung's disease / Diagnóstico tardio da doença de Hirschsprung

ABSTRACT: Hirschsprung's disease is a condition characterized by the absence of ganglion cells in a variable segment of the large intestine, mainly producing the symptom of constipation and being usually diagnosed in the first year of life. With diagnostic methods already established in the literature, the sole treatment is surgery. The objective of this study is to report a case of late diagnosis of the disease at age 13, with symptoms of fecal incontinence in its evolution. (AU)

RESUMO: A Doença de Hirschsprung é uma patologia caracterizada pela ausência de células ganglionares em um segmento variável do intestino grosso, produzindo principalmente o sintoma de constipação, sendo normalmente diagnosticada até o primeiro ano de vida. Com métodos diagnósticos já consagrados na literatura, o tratamento é exclusivamente cirúrgico. O objetivo deste trabalho é relatar um caso de diagnóstico tardio da doença, aos 13 anos, com sintomatologia de incontinência fecal na evolução do quadro. (AU)

Desafios diagnósticos na doença de Hirschsprung: aplicabilidade de novos métodos imunohistoquímicos e endoscópicos / Challenges in the diagnosis in Hirschsprun's disease: applecability of a new immunohistochemical and endoscopic methods

A identificação pré-operatória da zona de transição na Doença de Hirschsprung (DH) tornou-se um passo fundamental para o planejamento cirúrgico, especialmente para a técnica de abaixamento endorretal transanal. O presente estudo tem como objetivo investigar prospectivamente o valor da determinação colonoscópica da zona de transição na avaliação pré-operatória dos pacientes com DH. A colonoscopia foi realizada em doze pacientes com diagnóstico de DH previamente confirmado pela manometria anorretal, enema opaco e biópsia de sucção do reto. Endoscopicamente, o primeiro local com ausência de peristaltismo foi identificado como o início da zona agangliônica. Pouco acima deste ponto, a zona de transição foi marcada através de uma tatuagem com tinta nanquim. Durante o abaixamento endorretal transanal, uma biópsia de congelação envolvendo a espessura total da parede foi sempre realizada. Os resultados da determinação colonoscópica da zona de transição foram comparados com os obtidos pelo enema opaco. A colonoscopia permitiu a identificação da zona de transição em todos os 12 casos (100%). O enema opaco revelou a presença da zona de transição em apenas 7 pacientes (58,3%). A análise das amostras de congelação, obtidas pouco acima das áreas endoscopicamente marcadas, revelou a presença de células ganglionares em todos os casos. A análise histopatológica das peças cirúrgicas confirmou o diagnóstico de DH em todos os casos, assim como a localização da zona de transição no mesmo local previamente tatuado endoscopicamente...

Preoperative identification of the transition zone in Hirschsprung’s disease (HD) has become an essential issue for surgical planning, especially for Transanal Endorectal Pull- Through (TEPT) procedure. The present study aimed to investigate prospectively, the value of endoscopic marking of the transition zone between normal and aganglionic bowel, as a landmark of the location of pull-through procedure for treatment of HD. Colonoscopy was performed on twelve patients with HD diagnosis, previously confirmed by anorectal manometry, contrast enema and rectal suction biopsies. Endoscopically, the first site with absence of motility was identified as the beginning of the aganglionic area. Just above this point, the transition zone was marked with an Indian Ink tattooing. During the TEPT, a full-thickness biopsy for frozen section analysis was performed just above this mark. The results of colonoscopic making were compared with contrast enema. Colonoscopy allowed the identification and tattooing of the junction between normal bowel with peristalsis and aganglionic bowel without peristalsis in all 12 cases (100%). Barium enema revealed the transition zone in 7 patients (58.3%). Frozen samples, obtained just above the marked areas revealed the presence of ganglion cells in all cases and the histopathological analysis of surgical specimens confirmed the diagnosis of HD in all cases and checked the location of the transition zone at the same site previously identified by colonoscopy...

Enterocolitis asociada a enfermedad de Hirschsprung / Enterocolitis associated with Hirschsprung's disease

La enterocolitis asociada a enfermedad de Hirschsprung (EAEH) se define como la presencia de diarrea, deposiciones explosivas, distensión abdominal y signos radiológicos de obstrucción intestinal o edema de la mucosa. Es la causa más común de mortalidad en pacientes con enfermedad de Hirschsprung (EH). Puede ocurrir en cualquier etapa de la enfermedad, con una incidencia media del 25 por ciento. La fisiopatología es poco conocida. Etiologías potenciales son la obstrucción mecánica, infecciones, barrera mucosa defectuosa, y un sistema inmunológico deficitario. Microscópicamente la EAEH se caracteriza por criptitis y abscesos en las criptas, seguida de ulceración de la mucosa progresiva conduciendo eventualmente a la necrosis transmural. Los pilares del tratamiento son la reanimación con fluidos, la descompresión del intestino y la terapia antibiótica. A veces se requiere de una estoma cuando estas medidas han fracasado. La mayoría de los pacientes con EAEH siguen teniendo trastornos de la función intestinal muchos años después de la cirugía para la enfermedad de Hirschsprung. Investigaciones en la fisiopatología de la EAEH pueden conducir a medidas preventivas y mejores modalidades de tratamiento.

Hirschsprung’s-associated enterocolitis(HAEC) is defined as the presence of diarrhea, explosive stools, abdominal distension and radiologic evidence of bowel obstruction or mucosal edema. HAEC is the most common cause of mortality in patients with Hirschsprung’s disease. This condition may occur in any stage of the Hirschsprung’s disease, with a mean incidence of 25 percent. The pathophysiology is poorly understood. Potential etiologies are mechanical obstruction, infections, defective mucosal barrier, and impaired immunological system. Microscopically HAEC is characterized by cryptitis and crypt abscesses followed by progressive mucosal ulceration eventually leading to transmural necrosis. The mainstays of treatment are fluid resuscitation, decompression of the bowel and antibiotic therapy. Sometimes a stoma is required when such measures have failed. The majority of patients with HAEC continue to have disturbances of bowel function many years after surgery for Hirschsprung’s disease. Researchs into the pathophysiology of HAEC can lead to better preventative measures and treatment modalities.

Functional outcome after swenson's operation for hirshsprung's disease

Hirschsprung's disease [HD] is one of the most common causes resulting in lower intestinal obstruction in children with atypical clinical symptoms and inconspicuous morphological findings by barium enema X-ray. Recently, this situation has been largely ameliorated by improvement of instrument for measurement of anorectal pressure. By now, anorectal manometry has been regarded as a routine means for functional assessment and diagnosis of HD. It is accurate in nearly all cases of HD with characteristic absence of rectoanal inhibitory reflex. Different surgical modalities of treatment are available and Swenson's operation is one of the surgical procedures done for HD. Anorectal manometric findings may change after Swenson's operation with improvement of rectoanal inhibitory reflex in some cases. We aimed to evaluate functional results after Swenson's operation for HD using anorectal manometry. Between 1996 and 2005, 52 patients were diagnosed with HD and operated upon by Swenson's operation in Gastroenterology Center, Mansoura University. There were 33 males [63.46%] and 19 females [36.54%] with a mean age of 3.29 +/- 1.6, [range 2-17 years]. Anorectal manometry and rectal muscle biopsy were done preoperatively for diagnosis but after operation anorectal manometry was done after every six months and then yearly. All of the 52 patients showed absent rectoanal inhibitory reflex on manometric study with relatively higher resting anal canal pressure and within normal squeeze pressure. Postoperatively, there were 35 continent patients [67.31%] with 11 patients [21.15%] showing minor incontinence and six [11.54%] with major incontinence. On the other side, there were five patients [9.62%] with persistent constipation after operation [three due to anal stricture and two due to residual aganglionosis]. Postoperative manometric study showed some improvement in anal sensation with the rectoanal inhibitory reflex becoming intact in six patients [11.54%] four years after operation. Anorectal manometry is a more reliable method for diagnosis of HD than barium enema X-ray but for final diagnosis, it is reasonable to combine anorectal manometry with tissue biopsy. Functional outcome after Swenson's operation for HD may improve in some patients complaining of incontinence or constipation. Anorectal manometry may show improvement of the parameters after Swenson's operation

Aganglionosis del recto en el adulto / Aganglionosis of rectum present in the adult

Se reporta el caso de una paciente remitida con la impresión diagnóstica de tumoración de colon. La paciente presentaba distensión abdominal marcada desde hace más de un mes, sin poder defecar, aunque sí expulsaba gases. No refería dolor abdominal ni vómitos. A su ingreso y al profundizar en la anamnesis, expresa que desde la infancia presentaba demora de varios días para defecar. Fue intervenida quirúrgicamente, se tomó muestra del recto y su estudio definió una aganglionosis. La inhabitual documentación de esta enfermedad en los adultos resalta la singularidad de este caso(AU)

We report the case a female patient referred with the diagnostic criterion of colon tumor. Patients had a marked abdominal distention from more than a month, without defecation, although with gases ejection, and neither reports of pain nor vomits. At admission and to study in depth the anamnesis, she expressed that during its childhood had a delay to defecate. She was operated on with a rectum biopsy, and its study defined la presence of aganglionosis. The non habitual documentation of this disease present in adults emphasizes the singularity of this case(AU)

[Results of one stage transanal resection of large bowel in hirschsprung's disease]

Hirschspnmg's disease is a developmental disorder of the enteric nervous system, characterized by functional obstruction. Absence of ganglion cells in the distal colon resulting in a functional obstruction. The aim of this study was to evaluate the results and complications of one-stage transanal endorectal pull-through [OTEPT] in the management of patients with Hirschsprung's disease. A total of 40 children [31 boys and 9 girls] aged 3 days to 60 months underwent OTEPT procedure over a period of two-years at Dr. Sheikh pediatric Hospital. This study was approved by the local committee of Medical Ethics. Median follow up period was 9.10 months [range, 3 to 33 months]. Mean operation time recorded 101.60 mins [range, 25 to 270 minutes]. Hirschsprung's disease developed conventional in 55% [short segment in 30%], Ultra-short in 32.5% and long segment in 12.5%. Mean length of resected bowel measured 17.31 cm, 2 patients underwent laparatomy because of extension of aganglionic segment beyond the sigmoid colon. Mean NPO time and need to rectal tube after the operation were 4.35 and 4.41 days, respectively. 8 patients required urinary catheters after the operation with the mean remaining time of 3.30 days, 20% needed ICU care after surgery and mean hospital stay was 5.76 days. Post-operative complications included entrocolitis [n=2] and abdominal distension [n=1]. One patient expired due to non surgical reason [heart failure]. OTEPT procedure is a safe method with low incidence of postoperative complications. In Hirschsprung's disease confined to the rectosigmoid region, the hazard and morbidities associated with laparatomy and colostomy are avoided with this technique

Interstitial cells of Cajal and intestinal function in Trinidadian children / Células intersticiales de Cajal y función intestinal en niños trinitenses

OBJECTIVE: This study was carried out to compare the density of the interstitial cells of Cajal (ICCs) in the bowel wall of children with Hirschsprung's disease (HD), anorectal malformations (ARM) and normal controls in Trinidad and Tobago. SUBJECTS AND METHOD: Segments of bowel wall excised from eight children with HD, three controls and two children with ARM were immunostained with c-Kit primary antibody. Cells with features of ICCs were counted. RESULTS: All three controls and the two children with ARM had dense distribution of ICCs. Most children (6/8;75%) with HD had markedly reduced counts in aganglionic bowel. Two (25%) also had a decrease in ganglionic bowel. Possible influences were patient age and gender and the level of bowel sectioned. CONCLUSION: Analysis of this sample suggests that immunostaining for c-Kit positive cells might be a useful screening test in the assessment of bowel motility disorders. The possible effects of age, gender and the level of bowel sampled await determination.

OBJETIVO: Este estudio se llevó a cabo con el propósito de comparar la densidad de las células intersticiales de Cajal (CIC) en las paredes intestinales de niños con la enfermedad de Hirschprung (EH), y malformaciones anorectales (MAR), frente a controles normales en Trinidad Tobago. SUJETOS Y MÉTODOS: Segmentos de las paredes intestinales les fueron extirpados a ocho niños con EH; tres controles y dos niños con MAR fueron inmunoteñidos con anticuerpo primario c-kit. Se contaron las células con características de CIC. RESULTADOS: Los tres controles y los dos niños con MAR presentaban una distribución densa de CICs. La mayor parte de los niños (6/8; 75%) con EH tuvieron conteos marcadamente reducidos de intestino agangliónico. Dos niños (25%) también tuvieron una disminución de intestino gangliónico. Entre las influencias posibles se cuentan la edad y el género del paciente así como el nivel de intestino seccionado. CONCLUSIÓN: El análisis de esta muestra sugiere que la inmunotinción para células c-kit positivas podría ser un útil test de pesquisaje a la hora de evaluar desórdenes en la motilidad intestinal. Los efectos posibles de la edad, el género y el nivel de intestino muestreado, están pendientes de determinación.

Intestinal Neuronal Dysplasia / 대한소화기학회지

Intestinal neuronal dysplasia (IND) type B is a disease of the submucosal plexus of intestine manifesting chronic intestinal obstruction or severe chronic constipation. IND is one of intestinal dysganglionoses and clinically closely associated with Hirschsprung's disease. Until recently, it is not fully clear whether IND is a congenital malformation or an acquired secondary condition related to some gastrointestinal problems. However, recently published data and consensus reports have enhanced our understanding of the pathogenesis and management of IND. The aim of this paper was to review the current state of knowledge regarding the controversial issues of IND including the etiology, classification, diagnostic criteria, and available therapeutic intervention.

The accuracy of acetylcholinesterase reaction in rectal suction biopsy in the diagnosis of Hirschsprung's disease

Suction rectal biopsy with acetylcholinesterase (AChE) histochemistry has been recognized as a reliable method for the diagnosis of Hirschsprung's disease (HD). This study compares the final pathologic diagnosis made on paraffin embedded material of 68 colectomy specimens with the histochemical AChE reaction from the same patients previously diagnosed as HD by rectal suction biopsy at the Hospital Infantil Pequeno Príncipe (Curitiba, Brazil) from 1988 to 1999. The group included 58 male and ten female patients with ages ranging from 7 days to 10 years. Thirty-six patients (52.94 percent) where under 1 year of age at time of surgery. Two of the 68 patients had previous normal histochemical reactions for AChE: one of them resulted a normal ganglionic segment of bowel and the other one was a 15-day-old boy with total colonic aganglionosis, the only false-negative result in this series. Two patients had inconclusive results and because untreatable clinical symptoms also received surgical treatment. One of them resulted a normal ganglionic bowel and the other one was diagnosed as HD. All surgical specimens from the other 64 patients resulted in various extents of aganglionosis presenting prominent nerve trunks in the submucosal and myenteric plexuses, confirming the previous AChE histochemical diagnosis. In three cases there was total colonic aganglionosis. In this study the rectal suction biopsy associated with the histochemical method of AChE, performed days, months or sometimes years before surgery, resulted in a diagnostic accuracy rate of 95.59 percent, a positive predictive value of 100 percent and there were no false-positive results.

A biópsia de reto por sucção associada à histoquímica enzimática pela acetilcolinesterase (AChE) tem sido reconhecida como um método confiável para o diagnóstico da doença de Hirshsprung (HD). Este estudo compara o diagnóstico patológico final de 68 peças de colectomias incluídas em parafina com o diagnóstico prévio de HD através da reação histoquímica da AChE em biópsia por sucção retal dos mesmos pacientes, todos operados no Hospital Infantil Pequeno Príncipe, de Curitiba, entre 1988 e 1999. No grupo há 58 pacientes masculinos e dez femininos com idades variando entre 7 dias e 1 ano, sendo que 33 pacientes (52,94 por cento) tinham menos de 1 ano de idade no momento da cirurgia. Dos 68 pacientes, dois tiveram reação prévia normal pela AChE, porém, como persistiam com quadro de suboclusão intestinal, foram levados à cirurgia; um deles resultou HD, padrão aganglionose total do cólon, o único caso falso-negativo deste estudo. Outros dois pacientes tiveram resultado inconclusivo pela AChE, e um deles resultou HD no exame da colectomia. Todas as colectomias dos demais 64 pacientes resultaram agangliônicas (HD), apresentando proeminência de troncos nervosos nos plexos submucoso e mioentérico, confirmando o diagnóstico histoquímico prévio pela AChE. Em três casos havia aganglionose colônica total. Neste estudo a biópsia retal por sucção associada ao método histoquímico da AChE, realizado dias, meses ou anos antes da cirurgia, apresentou taxa de acurácia diagnóstica de 95,59 por cento, valor preditivo positivo de 100 por cento e nenhum resultado falso-positivo.

Intestinal neuronal dysplasia type A.

Intestinal neuronal dysplasia is a rare cause of bowel obstruction in neonates and infants, the diagnosis of which poses a formidable challenge to both clinicians and pathologists alike. The importance of this entity lies not only in the fact that it mimics Hirschsprung's disease, but also in that untreated cases, particularly of type A, may prove fatal. The authors describe one such case of intestinal neuronal dysplasia of type A, which was diagnosed at autopsy.

Megacólon parte 1: Doença de Hirschsprung / Megacolon part 1: Hirschsprung`s disease

A doença de Hirschsprung é uma anomalia congênita que tem como característica intrínseca a ausência dos neurônios intramurais dos plexos nervosos parassimpáticos (Meissner e Auerbach), afetando o intestino grosso, em geral, nos seus segmentos mais distais, como o reto e o cólon sigmóide. Os principais sinais e sintomas da doença são a distensão abdominal que ocorre logo após o nascimento, com presença de vômitos e retardo de mais de 48 horas na passagem do mecônio, sem que haja um fator mecânico obstrutivo reconhecido de imediato. A doença compromete quatro vezes mais os meninos que as meninas e é considerada como devido à falha de migração crânio-caudal da crista neural do vago, tratando-se, pois, de uma neurocristopatia, hoje considerada associada à "deleção" do braço longo do cromossomo 10. Um dos mais intrigantes fatores relativos ao megacólon congênito, além da incidência familiar, é sua alta associação com outras anomalias congênitas que chegam a estar presentes em 28por cento ou mais, dos casos. Deixada evoluir sem o tratamento precoce, em geral, ela provoca retardo do desenvolvimento que, não raramente, culmina com a morte, quase sempre associada a enterocolites graves. O tratamento é cirúrgico e se resume na retirada do segmento denervado, com reconstrução imediata do trânsito intestinal. O envolvimento do médico geneticista na avaliação desses pacientes é obrigatório já que, com a sua participação, o número total de anomalias adicionais reconhecidas triplica.

Morphometric Evaluation of PGP9.5 and NCAM Expressing Nerve Fibers in Colonic Muscle of Patients with Hirschsprung's Disease

A quantitative assessment of the density of the protein gene product 9.5 (PGP9.5), the neural cell adhesion molecule (NCAM), and the low-affinity nerve growth factor receptor (NGFR) expressing nerve fibers in the circular muscle layer in the colon was carried out by morphometric analyses from 13 patients with Hirschsprung's disease (HD). The difference in the nerve fiber density between the ganglionic and aganglionic segments was compared by calculating the ratio of the sum of the areas occupied by positively stained nerve fibers per unit area of the muscle after immunohistochemical staining on paraffin embedded tissue sections using computer software. There was an obvious difference in the density of the PGP9.5 stained nerve fibers between the ganglionic (0.0380 +/- 0.0171) and aganglionic segments (0.0143 +/- 0.01661). The NCAM-positive nerve fibers were fewer in number than those of both the PGP9.5-positive fibers and NCAM-positive fibers, which were also markedly lower in number in the aganglionic segment (0.0066 +/- 0.0076) than in the ganglionic segment (0.0230 +/- 0.0195). Immunostaining for low-affinity NGFR revealed much fainter staining in the ganglionic and aganglionic segment without a statistically significant difference in their density. Considering the fact that PGP9.5 is a very sensitive marker for nerve fibers, the results of this study reaffirm the innervation failure of the proper muscle in HD. The decreased NCAM expression level in the aganglionic segment appears to be caused not by the selective down-regulation of NCAM expression among the nerve fibers but by a markedly reduced number of nerve fibers.

Immunohistochemistry for intestinal ganglion cells and nerve fibers: aid in the diagnosis of Hirschsprung's disease.

Hirschsprung's disease is a disease of congenital abnormalities characterized by absence of the enteric ganglion cell of the colon. To make a definite diagnosis, biopsy of the aganglionic zones of colon is required. A specimen from submucosal biopsy of the colon is very small and difficult to identify submucosal ganglion cells. Our study reports an immunohistochemical technique to detect submucosal ganglion cells. Six antineural markers, peripherin, cathepsin D, PGP 9.5, synaptophysin, chromogranin and S-100 protein, were used. The best antibody for the detection of submucosal ganglion cells in our study was peripherin. The additional measurement of nerve fiber caliber using S-100 protein staining is a valuable aid in the diagnosis of Hirschsprung's disease. It can be applied to the suction submucosal biopsy in a patient suspected of having Hirschsprung's disease, therefore, the complicated full thickness colonic and rectal biopsy can be avoided.

Role of extramucosal seromuscular biopsy during preliminary fecal diversion in the management of Hirschsprung's disease.

The routine use of frozen section biopsy to identify distal ganglionic bowel in Hirschsprung's disease is the accepted norm in well developed centers. With the aim of overcoming non-availability of frozen section biopsy and reducing the duration of definitive surgery, an alternative algorithm, based on extramucosal seromuscular biopsy at the time of preliminary fecal diversion and its examination by routine paraffin sections and staining, was developed and used in 100 patients at our centre. This technique accurately marked the ganglionic colon for pull-through operation in 96.2% of cases with rectosigmoid transition zone and in 91.7% of those with transition zone in the descending colon, thus obviating the need for frozen section biopsy and saving nearly one hour during the pull-through surgery. However, in the more proximal varieties of Hirschsprung's disease frozen section biopsy was still considered to be indispensable.

Neuronal intestinal dysplasia: a role for surgery?

Neuronal intestinal dysplasia (NID) is a poorly understood colonic motility disorder with characteristic histopathological findings and clinical presentation. It is often associated with Hirschsprung's disease (HD) and can constitute a cause of failure of clinical improvement after adequate resectional pull-through surgery. Other conditions associated with NID are: Chronic Intestinal Pseudo-obstruction (CIPO), anorectal malformations and Multiple Endocrine Neoplasia (MEN) II syndrome patients. To increase the diagnostic yield of NID the pathologist should be aware and use histochemistry evaluation of the rectal biopsy specimen in patients with history of constipation or unexplained bouts of diarrhea. Adequate sampling of the temporary proximal colostomy done to HD patients should be examined for NID pathological changes. Treatment has centered around the clinical picture with most cases managed medically with prokinetic agents, colonic irrigations, and bowel cathartics until improvement and normalization of histology occur. There is evidence of progressive maturation of the enteric nervous system with time. Surgery is indicated for patients with severe clinical deterioration after failed medical management

A biópsia de sucçäo retal e a técnica histoquímica da acetilcolinesterase no diagnóstico deferencial da constipaçäo na infância / Differential dignosis of chronic constipation in infancy in rectal suction biopsy by acetycholinesterase activity

O diagnóstico da doença de Hirschsprung (aganglinose de cólon) e de outras alteraçoes da inervaçao retal é freqüentemente complexo e difícil de ser realizado com precisao. Este artigo apresenta a experiência dos autores com o uso da técnica histoquímica para detectar a atividade da aceticolinesterase nas biópsias de sucçao retal realizadas em 56 pacientes com constipaçao crônica severa. Os resultados revelaram alteraçoes em dois pacientes. Durante o seguimento, a evoluçao clínica confirmou o diagnóstico. Nenhuma complicaçao foi observada. Os autores concluiram que a biópsia de sucçao retal associada à técnica histoquímica da aceticolinesterase é um método efetivo na realizaçao do diagnóstico diferencial da constipaçao crônica severa na infância.

Surgical and pathological study of hirschsprugn's disease treatment by modified Duhamel operation in one stag versus two stages procedure

This work included 19 patients [17 males, 2 females], whose age ranged from 2 to 6 years, selected from Surgical and Pediatric Outpatient Clinics of El-Menia University Hospital in the period from January 1991 to December 1992. The aim of this work was to appraise the modified Duhammel operation which was used in the study with or without preoperative colostomy in patients complaining of Hirschsprung's disease with mild abdominal distention. The postoperative results were promising. Follow up of the patients ranged from 6 to 24 months. This procedure without colostomy shortened the surgical management of such patients and minimized the postoperative period of illness

Acuidade do enema opaco pela técnica de Neuhauser no diagnóstico de doença de Hirschsprung / Accuracy of barium enema with Neuhauser's technique in the diagnosis of Hirschsprung's disease

Avaliamos retrospectivamente 14 pacientes de grupos etários variados, com quadro clínico de constipaçäo intestinal e que foram submetidos, no período de 1976 a 1989, a biópsia retal para confirmaçäo do diagnóstico de doença de Hirschsprung. Fizemos a correlaçäo entre enema opaco pela técnica de Neuhauser, manometria anorretal e biópsia retal. Concluimos que a doença é mais comum no sexo masculino; a localizaçäo do segmento agangliônico é mais frequente no reto e no sigmóide; a maioria das crianças com doença de Hirschsprung inicia com sintomas logo após o nascimento; o enema opaco pela técnica de Neuhauser apresenta acurácia de cerca de 80 p/cento no diagnóstico da doença de Hirschsprung, o que näo é suficiente para ser usado como método único na avaliaçäo da criança obstipada; a manometria anorretal, associada ao enema opaco pela técnica de Neuhauser, obtiveram acurácia de 100 p/cento quando houve concordância entre os métodos