Waardenburg Syndrome Presenting With Constipation Since Birth.

Background: Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung’s disease. Case characteristics: A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Observation: Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Outcome: Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Message: Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.

Análisis del manejo quirúrgico de la enfermedad de Hirschsprung en el Hospital Nacional de Niños Dr. Carlos Sáenz Herrera, durante el periodo 2000-2010 / Surgical treatment of Hirschsprung's disease at the National Children's Hospital

Antecedentes: la enfermedad de Hirschsprung es causa de obstrucción intestinal baja en neonatos. Se caracteriza por ausencia de inervación en un segmento intestinal. El tratamiento radica en la resección de ese segmento intestinal enfermo para permitir el funcionamiento correcto del intestino sano. Se analizó el manejo de esta patología en el Hospital Nacional de Niños Dr. Carlos Sáenz Herrera, durante el periodo 2000-2010 y su epidemiología. Métodos: se realizó un estudio observacional retrospectivo; se revisó 130 expedientes usando Microsoft Excel y el programa estadístico JMP. Resultados: se identificó una relación de hombre: mujer de 4:1, la mayoría de los casos se presentó en recién nacidos de término. Los síntomas iniciales más frecuentes fueron distensión abdominal y vómitos biliosos. La edad de presentación, en el 78 por ciento de los casos, fue de menos de 1 mes. Dentro de las cirugías realizadas se evidenció que en el 35 por ciento de los casos se utilizó la técnica del descenso endorrectaltransanal y en el 48 por ciento, la técnica de Duhamel. Entre las complicaciones postoperatorias en el grupo de descenso endorrectaltransanal, la más frecuente fue la enterocolitis, en 14 de 19 casos, mientras que la complicación más frecuente en el grupo de Duhamel, fue el tabique rectal, en 8 de 21 casos. Conclusión: las características clínicas y epiedemiológicas de los casos de enfermedad de Hirschsprung analizados, son similares a las descritas en la bibliografía. Las complicaciones postoperatorias y la morbilidad fue similar para ambas técnicas quirúrgicas...

A Case of Acquired Zonal Aganglionosis in Adult

A chronic intestinal pseudo-obstruction is a rare disorder and a severe digestive syndrome. It is characterized by deranged gut propulsive motility that resembles a mechanical obstruction, but no obstructive process is present. An intestinal pseudo-obstruction may be classified as acute or chronic; the chronic form may also be classified as idiopathic or secondary to a variety of diseases. Treatment of intestinal pseudo-obstruction involves nutritional, pharmacological, and surgical therapies. Surgery should be limited to patients who are refractory to medical therapy and show a deteriorating course. Despite available medical and surgical interventions, the outcome remains poor. Here, we describe a case of a 54-year-old female with chronic constipation and abdominal distension, who was subsequently found to have segmental aganglionosis. The patient was treated with a subtotal colectomy and ileosigmoidostomy without sequelae.

Diagnóstico de enfermedad de Hirschsprung en biopsias de mucosa-submucosa del recto: una propuesta de trabajo / Proposed Recommendations and Guidelines for Diagnosis of Hirschsprung’s Disease in Mucosal and Submucosal Biopsies from the Rectum

Aunque el estreñimiento es frecuente en la población infantil, la mayoría de los niños no tienen una patología estructural y solo en un pequeño porcentaje hay una causa orgánica como la disganglionosis intestinal. De estas, la más común es la enfermedad de Hirschsprung (EH), un desorden del desarrollo del sistema nervioso entérico caracterizado por la ausencia de células ganglionares en el colon distal que ocasiona una obstrucción funcional. El diagnóstico se establece por biopsia rectal y requiere manejo quirúrgico. No contamos en nuestro país con pautas claras para el estudio de estos pacientes y es por eso que casi la mitad de los niños con EH se diagnostican tardíamente, después del año de vida. Este artículo propone pautas de manejo y recomendaciones tanto para el cirujano como para el patólogo, en un intento de facilitar el estudio de los pacientes con síntomas de estreñimiento y sospecha de aganglionosis.

Although constipation is common in children, most children have no structural disease, and only a small percentage of them have an organic cause for diseases such as intestinal dysganglionosis. Of these the most common is Hirschsprung’s disease (HD), a disorder of the enteric nervous system’s development characterized by the absence of ganglion cells in the distal colon that causes functional obstruction. A diagnosis is established by rectal biopsy which requires surgery. In Colombia there are no clear guidelines for the study of these patients. This results in late diagnoses of almost half of the children with HD after one year of age. This article proposes recommendations and management guidelines for both the surgeon and the pathologist in an attempt to facilitate the study of patients with symptoms of constipation and suspected aganglionosis.

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.

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)

ABCD syndrome revisited.

A four-day-old neonate presented with severe abdominal distention, intermittent bilious vomiting, typical black lock, partial albinism and heterochromatic iris. Ileostomy was done proximal to the transition zone at mid-ileal region (50 cms proximal to ileo-cecal region) All biopsy specimens till the transitional zone were negative for ganglion cells. Distinct features of total colonic aganglionosis and recto-sigmoid Hirschsprung's disease are delineated here.

Mucinous Adenocarcinoma Arising at the Anastomotic Site after Operation for Hirschsprung's Disease: Case Report

To our knowledge, rectal cancer arising at the anastomotic site after surgery for Hirschsprung's disease has not been reported. We report a case of mucinous adenocarcinoma arising at the anastomotic site after Soave operation 26 years ago.

Total Colonic Aganglionosis With Skip Area

Early recognition and surgical treatment of Hirschsprung's disease prevents serious mortality and morbidity from enterocolitis and obstruction. Usually this disease is chractrized by a single aganglionic segment of colon extending distally to anal margin. In surgical treatment, the surgeon performs frozen biopsy to confirm whether there are ganglion cells or not. If there are intervening ganglionic area in aganglionic bowel, there are much confusion in diagnosis and treatment. The authors experienced one case of total colonic aganglionosis with skip area. A transverse loop colostomy was made to a 7 day-old male baby with colon perforation due to Hirschsprung's disease. But intestinal obstruction persisted and it took 2 more operations to find out the ture nature of the disease. There were aganglionic segments from anal margin to terminal ileum 3.7cm proximal from ileocecal valve. But the entire transverse colon and appendix were normally ganglionated.

Diagnosis of Hirschsprung's Disease: Accuracy of Barium Enema Findings

PURPOSE: To determine the relative accuracy of barium enema findings of Hirschsprung's disease (HD) and to calculate a level of probability for three signs combined. MATERIAL AND METHODS: Barium enema findings in 45 patients who had undergone rectal biopsy to prove or exclude the diagnosis of HD were retrospectively analyzed by evaluating the presence of a transition zone, irregular contractions and delayed evacuation of barium. Seventeen were neonates (group 1) and the other 28 were infants and children (group 2). The sensitivity, specificity, and positive and negative predictive values of the findings were compared. RESULTS: In visualization of a transition zone, sensitivity, specificity and positive predictive value were 76.5%, 72.7% and 89.7%, respectively. Sensitivity for irregular contractions and delayed evacuation of barium was 76.5% and 91.7%, respectively, whereas for specificity, the corresponding values were 63.6% and 40%. Sensitivities for radiologic signs were higher in group 1 than in group 2, but, the specificities were lower. If two or three findings were positive, the level of probability was 85 - 100%. If two findings were negative, however, the corresponding value was 30%. CONCLUSION: We conclude that the most reliable HD finding is the presence of a transition zone. Irregular contractions and the delayed evacuation of barium are not specific. Two or three positive findings may suggest a higher probability of HD than any single positive finding alone.

Establishment of experimental aganglionosis model and observation of its biological features in rat / 重庆医科大学学报

Objective:To establish a rat model of experimental aganglionosis for MSCs transplantation,and to observe its biological features in rat.Methods:Ninety Sprague Dawley rats,8～9 weeks old,were randomly divided into two groups:treatment group(n45) and control group(n45).All animals were operated upon under Ketamine anesthesia.In treatment group,0.1% benzalkonium chloride (BAC) was applied onto the serosa for 40 minutes,and then the colon was washed well with 0.9% normal saline.For the control group,0.9% saline was applied using the same method in treatment group.Macroscopic and microscopic observations,contrast roentgenogrphy of colon,colon manometry,pharmacologic examinations for contraction of colonic smooth muscle and the expression of AchE,nestin,Chrm3 by RT-PCR were performed at an interval of 1week,2weeks,3weeks,4weeks and 8weeks after operation.Results:1 week after BAC treatment,the rats had abdominal distention.Roentgenographic examination and autopsy revealed a narrowed segment accompanied by distended proximal colon filled with massive feces,and the longer the duration after treatment,the more serious the distention.Manometry showed the abolition of reflex contraction in colonic smooth muscle,and pharmacologic examinations indicated supersensitivity to acetylcholine. Histologic examinations revealed transparent reduction and vacuolation of ganglion cells 1 week after BAC treatment with complete disappearence of 3 weeks after BAC treatment.Conclusion:The animal model for experimental aganglionosis is successfully established by applying 0.1%BAC onto the serosa of descending colon,which provides an experimental basis for the future MSCs transplantation and differentiation into neuronal cells in rat colon.