ROENTGENOGRAPHIC MANIFESTATIONS OF CONGENITAL MEGACOLON (HIRSCHSPRUNG'S DISEASE) IN EARLY INFANCY

PEDIATRICS ◽  
1956 ◽  
Vol 18 (2) ◽  
pp. 227-238
Author(s):  
Carroll Z. Berman

The roentgenographic findings in the first month of life were reviewed in a series of 23 infants with histologically proven [See FIG. 9. in source pdf] Hirschsprung's disease. The plain roentgenograms of 18 of the babies showed significant large bowel distention and 12 had prominent colonic fluid levels. In 15 of 19 of the patients which had been subjected to barium enema, the roentgenograms are diagnostic of congenital megacolon. In 5 of 7 of the infants contrast enemas in the first week of life demonstrated the characteristic deformity. The conclusions which appear justified from this investigation are: Congenital megacolon (Hirschsprung's disease) may be strongly suspected in the newborn period in a large majority of cases from the appearance of plain roentgenograms of the abdomen made in recumbent and erect projections. In some instances, roentgenograms in the inverted position supply additional or substantiating evidence of the disease. In lesions starting in the proximal half of the colon, the abdominal distention involves mainly small bowel, and the differentiation from low jejunal or ileal obstruction is usually not possible from the plain roentgenograms. Here examination by barium enema may be expected to establish the diagnosis. When the segment of achalasia begins above the ileocecal valve, the plain roentgenograms again indicate small bowel obstruction, but here barium enema does not demonstrate a significant contour or caliber abnormality of the colon. In this type of case, follow-up roentgenograms 24 and 48 hours after the enema will often show considerable retention of the barium thus suggesting the diagnosis which must be confirmed by biopsy. When the proximal end of the involved segment of colon is low in the rectum, the lesion may be very difficult to demonstrate by barium enema. The age factor alone, i.e., the performance of the examination very early in infancy, does not of itself preclude demonstration of the lesion of Hirschsprung's disease by barium enema.

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S73-S73
Author(s):  
V Ramachandran ◽  
J Nguyen ◽  
C Caruso ◽  
D Rao

Abstract Introduction/Objective Hirschsprung’s disease is a disorder associated with an absence of ganglion cells in a segment of the bowel. Total colonic and small bowel aganglionosis occurs in less than 1% of all Hirschsprung’s disease patients. Even rarer is the finding of Haddad syndrome, the coexistence of congenital central hypoventilation syndrome and Hirschsprung’s disease. Congenital central hypoventilation syndrome has approximately 1,000 reported cases, with colonic aganglionosis being associated with 15-20% of those cases. The prevalence of Hirschsprung’s disease with congenital renal anomalies may be another underreported finding. Methods Here, we report two rare cases of Hirschsprung’s disease with significant extension in the small bowel. One case involves a 38-week gestational age male infant admitted for apnea and another case involves 39-week gestational age female infant admitted for vomiting. Results Both infants had rectal suction biopsies confirming the absence of ganglion cells. The male infant had mapping biopsies which histologically showed hypertrophic nerve fibers and an absence of ganglion cells in the colon extending up to 70 cm proximal to the ileocecal valve. Calretinin immunostaining confirmed aganglionsis. Genetic testing showed a PHOX2B gene mutation carrying 32 polyalanine repeat mutations, confirming a diagnosis of congenital central hypoventilation syndrome coexisting with Hirschsprung’s disease. The female infant had intraoperative frozen sections that identified ganglion cells throughout the colon. On permanent sections, there was an absence of ganglion cells in the upper rectum extending up to 65 cm proximal to the ileocecal valve. She also was noted to have agenesis of the left kidney and a urachal remnant. Genetic testing was negative for RET mutations. Conclusion Overall, these cases provide further information on a rare variant of Hirschsprung’s disease that includes significant portions of the small bowel. Additionally, this study adds to the documented reports of Haddad syndrome and the connections between renal anomalies with Hirschsprung’s disease. Last, this series alludes to the difficulties of frozen section diagnosis of this disease.


1988 ◽  
Vol 18 (1) ◽  
pp. 16-19 ◽  
Author(s):  
John T Momoh

The clinical features and treatment of 15 children with short-segment Hirscbsprung's disease were reviewed. It accounted for 25% of all Hirschsprung's cases seen 1975–84. The symptomatology, which was generally mild, consisted of slowly progressive abdominal distension with one of three defaecating patterns: persistent or intermittent diarrhoea; 2–3 normal daily motions; and constipated stool passed infrequently. Diagnosis was based mainly on the clinical features and barium enema findings. Eight patients had formal sphincterectomy and 3 had rectal muscle biopsy; follow up to 2½ years in some of the patients with sphincterectomy showed satisfactory results. Factors that would expedite clinical diagnosis are discussed.


1997 ◽  
Vol 36 (4) ◽  
pp. 631
Author(s):  
Sue Yun Yu ◽  
Gye Yeon Lim ◽  
Ji Yeong Yun ◽  
Seong Tae Hahn ◽  
Hak Hee Kim ◽  
...  

Author(s):  
Tran Anh Quynh ◽  
Pham Duy Hien ◽  
Le Quang Du ◽  
Le Hoang Long ◽  
Nguyen Thi Ngoc Tran ◽  
...  

AbstractRobotic surgery offers three-dimensional visualization and precision of movement that could be of great value to gastrointestinal surgeons. There were many previous reports on robotic technology in performing Soave colonic resection and pull-through for Hirschsprung’s disease in children. This study described the follow-up of the Robotic-assisted Soave procedure for Hirschsprung’s disease in children. Robotic-assisted endorectal pull-through was performed using three robotic arms and an additional 5-mm trocar. The ganglionic and aganglionic segments were initially identified by seromuscular biopsies. The rest of the procedure was carried out according to the Soave procedure. We left a short rectal seromuscular sleeve of 1.5–2 cm above the dentate line. From December 2014 to December 2017, 55 pediatric patients were operated on. Age ranged from 6 months to 10 years old (median = 24.5 months). The aganglionic segment was located in the rectum (n = 38), the sigmoid colon (n = 13), and the left colon (n = 4). The mean total operative time was 93.2 ± 35 min (ranging from 80 to 180 min). Minimal blood was lost during the surgery. During the follow-up period, 41 patients (74.6%) had 1–2 defecations per day, 12 patients (21.8%) had 3–4 defecations per day, and 2 patients (3.6%) had more than 4 defecations per day. Fecal incontinence, enterocolitis, and mild soiling occurred in three (5.4%), four (7.3%), and two pediatric patients, respectively. Robotic-assisted Soave procedure for Hirschsprung’s disease in children is a safe and effective technique. However, a skilled robotic surgical team and procedural modifications are needed.


PEDIATRICS ◽  
1949 ◽  
Vol 4 (2) ◽  
pp. 201-209
Author(s):  
ORVAR SWENSON ◽  
EDWARD B. D. NEUHAUSER ◽  
LAWRENCE K. PICKETT

Hirschsprung's disease, or congenital megacolon, is due to a functionally abnormal segment of bowel in the sigmoid or rectosigmoid. This can be demonstrated effectively by appropriate roentgenologic studies with barium as a contrast medium. The bowel above this abnormally functioning segment shows changes commonly found above an area of obstruction; the bowel is dilated and hypertrophied. Removal of the functionally abnormal bowel (rectum or rectosigmoid) has relieved the patients' symptoms. A new operative technique is utilized in performing this resection. The fact is stressed that these children will have to be followed for a period of several years before any claims of a permanent cure can be made.


2008 ◽  
Vol 52 ◽  
pp. 124-124
Author(s):  
Carl Martin Madsen ◽  
Carl Chr. Winkel Smith

2018 ◽  
Vol 24 (1) ◽  
pp. 70-78 ◽  
Author(s):  
Viet Q Tran ◽  
Tania Mahler ◽  
Patrick Bontems ◽  
Dinh Q Truong ◽  
Annie Robert ◽  
...  

1995 ◽  
Vol 30 (5) ◽  
pp. 655-658 ◽  
Author(s):  
Terri L Marty ◽  
Takahiko Seo ◽  
Michael E Matlak ◽  
John J Sullivan ◽  
Richard E Black ◽  
...  

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