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Segmental absence, of small intestinal musculature: an important cause of neonatal intestnal obstruction and perforation
(staodaM error SE); 13(SE 6) per 24 hr vs 52(SE 6), p < 0.01), and high-amphtude propagating sequences 0"tAPS )(5 (SE 2) per 24 hr vs 9 9 (SE 1.4), p < 0.05), The amplitude of FL4PS pressure waves was less than controls (94 (SE 10) mmHg vs 117 (SE 3), p<0.01), but the amplitude ot retrograde propagating sequences was greater (43 (SE 6) mmHg vs 27 (SE 1), p < 0 01). The distance travelled by ~ P S was less than that of controls. Meal ingestion and waking did not provoke an increase in the fi'equency of HAPS or nonpropagating colonic activity that occurred in controls. Conclusions: Children with slow transit constipation show significant abnormalities in pre- and post-prandial colonic motor function Many of these changes are similar to those seen in adults with slow transit constipation. We speculate that Slow transit constipation in childhood occurs secondarily to the abnormal nlaturation of enteric neurotransmitters,
cause of neonatal morbidity, OBJECTIVES To describe the clinicopathologic [eatures of SAM. To emphasize the histologic characteristics that are helphfl in the recognition of the condition by routinely available methods, To stress the differential diagnosis with NEC. To evaluate the presence, abundance and location of the interstitial cells of Cajal (ICC). METHODS 'Are reviewed surgical files and histologic material from 60 infants indexed as intestinal obstruction or intestinal perforation between 1991 and 2002. RESULTS Twenty-six patients had NEC, 25 had SAM and 9 had various other tbmrs of bowel myopathy. Patients with SAM had a lower gestational age and birth weight. They presented with abdominal distension with surprisingly few systemic symptoms. In most cases, there was dilatation or perforation of the small bowel. Five patients died. In contrast, patients with NEC were seriously ill at presentation and radiography showed pneumatosis intestinalis or portal venous air. The small bowel and the colon were equally involved by a necrotizing inflammation. Ten patients died, Cases of NEC were characterized by necrotizing inflammation of the bowel wall with or without pneumatosis intestinalis, In contrast, the bowel of patients with SAM was not necrotic and showed little inflammation. It had always a detect of the internal layer of the mnscularis propia while the myenteric plexus of Auerbach and the ICC were normally developed. CONCLUSIONS Segmental absence of intestinal musculature and necrotizing enterocolitis differ in their clinical and histopathologic characteristics, Segmental absence of intestinal musculature is an important cause of neonatal intestinal obstruction and perforation.
T1339
Development of a Disease-Specific Health-Related Quality of Life Questionnaire (HRQoL) for Children With Chronic Constipation and Eneopresis. The Dutch Defecation List (DDL) Wieger P Voskuijl, Hester J. Van der zaag-Loonen, Iris J. Ketel, Martha A, Grootenhuis, Bert H, Derio:, Marc A Benninga Background: Childhood constipation is a prevalent disorder, regularly accompanied by encopresis. In ma W patients infl:equent defecation and eucopresis frequently cause problems in emotional well being, social- and family life Up until now, instruments measuring Health Rdated Quality of Life (HRQoL) in childhood eonstipatmn are not as'ailable Aim: To develop a disease specific HRQoL instrument for childhood constipation and encopresis. Methods: A disease specflic HRQoL instrument tor children (Dutch Defecation List) with conatipation and encopres~s aged 7-15 years was developed using internationally accepted guidelines. For separate phases of the development of the instrument, different ~mples of patients were used. The item reduction phase encompassed 43 children, questionnaire modeling 5, and in the pilot testing phase 26 patients were used. The final phase of development consisted of 26 children. Reliability was assessed in two ways: internal crarsistency between items within a domain (Cronbadfs alpha) and internal reliability in terms of test-retest stability over time (Intra Class Coefficients ICCs). For validity, comparable items and domains were correlated to the "I~CQoL (TNO-AZI. children's quality of lite (generic) questionnaire). Results: The instrument consisted of 37 items on 4 domains (constipation related (3), emotional functioning (13), social functioning (1 i) and treamlent/interventions (10)). There were no missing items reported. The response rate was 96%. Rehabibty was good tbr all domains with Cronbach alpha's ranging from 0,61--0.76. Measures of test-retest stability of the questionnaire were good lot all 4 domains with ICC's ranging from 0.82--0.90 Validity of the instrument, compared to the TACQoL was moderate Conclusion: "Pne DDL is the first disease specific instrument to measure HRQoL in chfldhimd constipation and encoprasis. The instrument is promising in measuring tlRQoL in childhood constipation and encopresis
T1342
Colon Cancer in Children Steven H. Erdman, Marc G. Sehlatter, Jill Trimbath, Francis M Giardidlo, Naser Tolaymat, Anna Haddal, Faye Eggerding Adenocarcinoma of the colon and rectum is the third most common cancer of adult men and women resulting in an estimated 56,700 deaths annually. Ninety-eight percent of colorectal cancers are diagnosed after age forty making this disorder uncommon in young adults and extremely rare in the pediatric population. We describe five children between the ages of 10 and 13 who were diagnosed with colon cancer after presenting with abdominal pain, loose stools, weight loss, fatigue, and fever of unknown etiology. A family history' of colon cancer or of a polyposis syndrome was present for only one of the children. None had histories or colonoscopic findings supportive of inflammatory bowel disease or cystic fibrosis. Three of the malignancies were found as isolated lesions in the left colon. One child had a non-obstructing sigmoid lesion with dittuse adenomatons polyposis and one child had multiple monosynchronous cancers in the setting of adenomatous ofigopolyposis. This latter patient's evaluation, including screening for mismatch repair gene disorders, has failed to identify a predisposing gene mutation. Direct sequencing of the APC gene is pending. All resected specimens were found to have tumor invading the subsemsa, non-peritonealized pericolic or perirectal tissues. Three of the five children had hepatic or pulmonary metastasis at tire time of diagnosis. Overall one-year survival was 33% (1 of 3) with a six month survivor who is doing poorly and a fifth patient who is six weeks out from surgery'. CONCLUSION: Colorec~al cancer, as. either an isolated malignancy, or in association with a polyposis ~qadmme, does occur during childhood. Pediatric colon cancer tends to be diagnosed at an advanced stage after a prolonged and symptomatic presentation, Late diagnosis would be expected to impact survival Although a rare disorder, pediatric care providers need to be aware of this disease and that it can occur without a family history of colon cancer
T1340
Esophageal Motor Function in Isolated Congenital Esophageal Stenosis Hisayoshi Kawahara, Takaharu Oue, Hiroomi Okuyama, Akio Kubota Background/Aim: isolated congenital esophageal stenosis (ICES) is a extremely rare condition, in which little is known regarding esophageal motor function. It has been reported that NO production is significantly reduced in myenteric neurons in the esophageal body of ICES patients. Various symptoms seen in ICES patients sometimes remain after surgical correction of esophageal narrowing lesions, it was aimed m the present stud)`, to explore the esophageal motor hinction in ICES patients. Materials/Methods: Four patients, including a boy (I yr) with tracheobronchial remnants (TBR), two boys (3 yrs, 5 yrs) with fibromuscular hypertrophy (FMH) and a boy (lyr) with membranous stenosis (MS), were studied before surgery. The causes of ICES were confirmed histologically wlth the specimens obtained by surgery in 3 patients with TBWFMH or by endoscopic findings in a patient with MS. The initial symptom was stridor in a patient with TBR and dysphagia in other 3 patients. Esuphagram, endoscopy, 24&r esophageal pH monitoring and manometry were conducted in all. Manometric study was pertbrmed with a computerized infhsinn system using miniarorized silastic manometric assemblies wlth sideholes and a sleeve set,sot Results: Esophagram showed persistent narrowings in the distal esophagus and stasis of contrast trledium in the esophagus proximal to the narrosving lesions in patients with TBR/FMH. Fluoroscopic esophageal clearance was not impaired in a patient with MS. Endoscopy confirmed narrowings in the distal esophagus without esophagitis in all. In 24-hr esophageal pH momtoring, esophageal acid exposure was increased in 3 patients(14%, 8%, 19%), but was within the normal range in a patient with FMH(0.3%), Manometric study showed that esophageal contraction was mostly syachronous in patients with TBR~MH, but was peristaltic in a patient with MS Basal lower esophageal sphincter (LES) pressure was within the normal range (> 20 mmHg), but swallow-induced LES relaxations were frequendy incomplete in all. Conclusions: Gastroesophageal reflux is frequently associated with ICES. Functional impairment of esophageal body/LES is possibly related with clinical symptoms as well as the obstruction in the esophageal narrowing lesions It Ls important to consider impairment of esophageal motor function in the evaluation of clinical syTnptoms in the pre~ and postoperative ICES patients.
T1343
Peutz Jeghers Syndrome - A Case For Luminal Surveillance In Childhood Warren Hyer, John Fell, Caroline Philp, Robin Phillips Peutz Jeghers syndrome (PJS) is characterised by muco-cutaneona pigmentation and mid gut intussusception. Although difierent luminal surveillance protocols exist ~attempting to reduce the number of laparotomies and complications, the incidence of these childhood complications has not previously been documented, Aims: To determine the incidence of luminal compficatinns related of pJS in affected children and adolescents before age 18 years. Methods: Data was collected from the St Mark's Polypnsis Registry - a postal questionnaire was sent to PJS patients, and responses validated using the Register - response rate 91% Ethical permission was granted, Subjects: Data was collected on 29/32 kindreds: 34 PJS patients > 18 yrs, median age 34 yrs; 17 aged < 18 yrs, median age 8 yrs. Resuhs: 23/34 (68%) of PJS adults had undergone a lapamtomy for intestinal obstruction age <18 years. The median age of first laparotomy = 10 ),,ears (range 2-17 years) (Figure 1) 8/23 (35%) required a hlrther laparotomy within 5 years for polyp related complications 16/23 (70%) of laparotomies performed in childhood were emergency procedures for intestinal obstruction. Most patients reported significant recurrent abdominal pain prior to laparotomy, 4117 (24%) of children (still < 18 years) had already undergone laparotomy, 3f4 for intestinal obstruction,
T1341
Segmental Absence of Small Intestinal Musculature: an Important Cause of Neonatal Intestinal Obstruction and Perforation Gert De Hertogh, Peter Van Eyken, Karen P, Geboes, Marc Miserez, Hugo Dcvlieger, Karel Geboes
Conclusion: This represents the largest survey of PJS kindreds to date assessing paediatric complications Laparotomies in childhood are eomnmn and 70% are pertormed as an emergency, The high rate of emergency procedures, and 35% risk of re-operation within 5 years, might have been avoided had luminal surveillance (e,g endoscopy, capsule or contrast radiology) been performed early - before age 10 years. The precise age to start surveillance should be guided by symptoms.
BACKGROUND Neonatal intestinal obstruction and pertbration can be due to a variety of causes, including atresia and necrotizing enterocofitis (NEC). We obse~'ed 25 cases of segmental absence of the bowel mnscularore (SAM) causing either obstmctinn or perforation in low birth weight newborns, and we identified this type of myopathy as another important
AGA Abstracts
Ref: ~Hyer W, Bevendge I, Domizin P, Phillips RK, Clinical management and genetics of gastrointestinal polyps in children. J Paed Gastro Nutr 2000; 31:469-479
A-514
cause of neonatal morbidity, OBJECTIVES To describe the clinicopathologic [eatures of SAM. To emphasize the histologic characteristics that are helphfl in the recognition of the condition by routinely available methods, To stress the differential diagnosis with NEC. To evaluate the presence, abundance and location of the interstitial cells of Cajal (ICC). METHODS 'Are reviewed surgical files and histologic material from 60 infants indexed as intestinal obstruction or intestinal perforation between 1991 and 2002. RESULTS Twenty-six patients had NEC, 25 had SAM and 9 had various other tbmrs of bowel myopathy. Patients with SAM had a lower gestational age and birth weight. They presented with abdominal distension with surprisingly few systemic symptoms. In most cases, there was dilatation or perforation of the small bowel. Five patients died. In contrast, patients with NEC were seriously ill at presentation and radiography showed pneumatosis intestinalis or portal venous air. The small bowel and the colon were equally involved by a necrotizing inflammation. Ten patients died, Cases of NEC were characterized by necrotizing inflammation of the bowel wall with or without pneumatosis intestinalis, In contrast, the bowel of patients with SAM was not necrotic and showed little inflammation. It had always a detect of the internal layer of the mnscularis propia while the myenteric plexus of Auerbach and the ICC were normally developed. CONCLUSIONS Segmental absence of intestinal musculature and necrotizing enterocolitis differ in their clinical and histopathologic characteristics, Segmental absence of intestinal musculature is an important cause of neonatal intestinal obstruction and perforation.
T1339
Development of a Disease-Specific Health-Related Quality of Life Questionnaire (HRQoL) for Children With Chronic Constipation and Eneopresis. The Dutch Defecation List (DDL) Wieger P Voskuijl, Hester J. Van der zaag-Loonen, Iris J. Ketel, Martha A, Grootenhuis, Bert H, Derio:, Marc A Benninga Background: Childhood constipation is a prevalent disorder, regularly accompanied by encopresis. In ma W patients infl:equent defecation and eucopresis frequently cause problems in emotional well being, social- and family life Up until now, instruments measuring Health Rdated Quality of Life (HRQoL) in childhood eonstipatmn are not as'ailable Aim: To develop a disease specific HRQoL instrument for childhood constipation and encopresis. Methods: A disease specflic HRQoL instrument tor children (Dutch Defecation List) with conatipation and encopres~s aged 7-15 years was developed using internationally accepted guidelines. For separate phases of the development of the instrument, different ~mples of patients were used. The item reduction phase encompassed 43 children, questionnaire modeling 5, and in the pilot testing phase 26 patients were used. The final phase of development consisted of 26 children. Reliability was assessed in two ways: internal crarsistency between items within a domain (Cronbadfs alpha) and internal reliability in terms of test-retest stability over time (Intra Class Coefficients ICCs). For validity, comparable items and domains were correlated to the "I~CQoL (TNO-AZI. children's quality of lite (generic) questionnaire). Results: The instrument consisted of 37 items on 4 domains (constipation related (3), emotional functioning (13), social functioning (1 i) and treamlent/interventions (10)). There were no missing items reported. The response rate was 96%. Rehabibty was good tbr all domains with Cronbach alpha's ranging from 0,61--0.76. Measures of test-retest stability of the questionnaire were good lot all 4 domains with ICC's ranging from 0.82--0.90 Validity of the instrument, compared to the TACQoL was moderate Conclusion: "Pne DDL is the first disease specific instrument to measure HRQoL in chfldhimd constipation and encoprasis. The instrument is promising in measuring tlRQoL in childhood constipation and encopresis
T1342
Colon Cancer in Children Steven H. Erdman, Marc G. Sehlatter, Jill Trimbath, Francis M Giardidlo, Naser Tolaymat, Anna Haddal, Faye Eggerding Adenocarcinoma of the colon and rectum is the third most common cancer of adult men and women resulting in an estimated 56,700 deaths annually. Ninety-eight percent of colorectal cancers are diagnosed after age forty making this disorder uncommon in young adults and extremely rare in the pediatric population. We describe five children between the ages of 10 and 13 who were diagnosed with colon cancer after presenting with abdominal pain, loose stools, weight loss, fatigue, and fever of unknown etiology. A family history' of colon cancer or of a polyposis syndrome was present for only one of the children. None had histories or colonoscopic findings supportive of inflammatory bowel disease or cystic fibrosis. Three of the malignancies were found as isolated lesions in the left colon. One child had a non-obstructing sigmoid lesion with dittuse adenomatons polyposis and one child had multiple monosynchronous cancers in the setting of adenomatous ofigopolyposis. This latter patient's evaluation, including screening for mismatch repair gene disorders, has failed to identify a predisposing gene mutation. Direct sequencing of the APC gene is pending. All resected specimens were found to have tumor invading the subsemsa, non-peritonealized pericolic or perirectal tissues. Three of the five children had hepatic or pulmonary metastasis at tire time of diagnosis. Overall one-year survival was 33% (1 of 3) with a six month survivor who is doing poorly and a fifth patient who is six weeks out from surgery'. CONCLUSION: Colorec~al cancer, as. either an isolated malignancy, or in association with a polyposis ~qadmme, does occur during childhood. Pediatric colon cancer tends to be diagnosed at an advanced stage after a prolonged and symptomatic presentation, Late diagnosis would be expected to impact survival Although a rare disorder, pediatric care providers need to be aware of this disease and that it can occur without a family history of colon cancer
T1340
Esophageal Motor Function in Isolated Congenital Esophageal Stenosis Hisayoshi Kawahara, Takaharu Oue, Hiroomi Okuyama, Akio Kubota Background/Aim: isolated congenital esophageal stenosis (ICES) is a extremely rare condition, in which little is known regarding esophageal motor function. It has been reported that NO production is significantly reduced in myenteric neurons in the esophageal body of ICES patients. Various symptoms seen in ICES patients sometimes remain after surgical correction of esophageal narrowing lesions, it was aimed m the present stud)`, to explore the esophageal motor hinction in ICES patients. Materials/Methods: Four patients, including a boy (I yr) with tracheobronchial remnants (TBR), two boys (3 yrs, 5 yrs) with fibromuscular hypertrophy (FMH) and a boy (lyr) with membranous stenosis (MS), were studied before surgery. The causes of ICES were confirmed histologically wlth the specimens obtained by surgery in 3 patients with TBWFMH or by endoscopic findings in a patient with MS. The initial symptom was stridor in a patient with TBR and dysphagia in other 3 patients. Esuphagram, endoscopy, 24&r esophageal pH monitoring and manometry were conducted in all. Manometric study was pertbrmed with a computerized infhsinn system using miniarorized silastic manometric assemblies wlth sideholes and a sleeve set,sot Results: Esophagram showed persistent narrowings in the distal esophagus and stasis of contrast trledium in the esophagus proximal to the narrosving lesions in patients with TBR/FMH. Fluoroscopic esophageal clearance was not impaired in a patient with MS. Endoscopy confirmed narrowings in the distal esophagus without esophagitis in all. In 24-hr esophageal pH momtoring, esophageal acid exposure was increased in 3 patients(14%, 8%, 19%), but was within the normal range in a patient with FMH(0.3%), Manometric study showed that esophageal contraction was mostly syachronous in patients with TBR~MH, but was peristaltic in a patient with MS Basal lower esophageal sphincter (LES) pressure was within the normal range (> 20 mmHg), but swallow-induced LES relaxations were frequendy incomplete in all. Conclusions: Gastroesophageal reflux is frequently associated with ICES. Functional impairment of esophageal body/LES is possibly related with clinical symptoms as well as the obstruction in the esophageal narrowing lesions It Ls important to consider impairment of esophageal motor function in the evaluation of clinical syTnptoms in the pre~ and postoperative ICES patients.
T1343
Peutz Jeghers Syndrome - A Case For Luminal Surveillance In Childhood Warren Hyer, John Fell, Caroline Philp, Robin Phillips Peutz Jeghers syndrome (PJS) is characterised by muco-cutaneona pigmentation and mid gut intussusception. Although difierent luminal surveillance protocols exist ~attempting to reduce the number of laparotomies and complications, the incidence of these childhood complications has not previously been documented, Aims: To determine the incidence of luminal compficatinns related of pJS in affected children and adolescents before age 18 years. Methods: Data was collected from the St Mark's Polypnsis Registry - a postal questionnaire was sent to PJS patients, and responses validated using the Register - response rate 91% Ethical permission was granted, Subjects: Data was collected on 29/32 kindreds: 34 PJS patients > 18 yrs, median age 34 yrs; 17 aged < 18 yrs, median age 8 yrs. Resuhs: 23/34 (68%) of PJS adults had undergone a lapamtomy for intestinal obstruction age <18 years. The median age of first laparotomy = 10 ),,ears (range 2-17 years) (Figure 1) 8/23 (35%) required a hlrther laparotomy within 5 years for polyp related complications 16/23 (70%) of laparotomies performed in childhood were emergency procedures for intestinal obstruction. Most patients reported significant recurrent abdominal pain prior to laparotomy, 4117 (24%) of children (still < 18 years) had already undergone laparotomy, 3f4 for intestinal obstruction,
T1341
Segmental Absence of Small Intestinal Musculature: an Important Cause of Neonatal Intestinal Obstruction and Perforation Gert De Hertogh, Peter Van Eyken, Karen P, Geboes, Marc Miserez, Hugo Dcvlieger, Karel Geboes
Conclusion: This represents the largest survey of PJS kindreds to date assessing paediatric complications Laparotomies in childhood are eomnmn and 70% are pertormed as an emergency, The high rate of emergency procedures, and 35% risk of re-operation within 5 years, might have been avoided had luminal surveillance (e,g endoscopy, capsule or contrast radiology) been performed early - before age 10 years. The precise age to start surveillance should be guided by symptoms.
BACKGROUND Neonatal intestinal obstruction and pertbration can be due to a variety of causes, including atresia and necrotizing enterocofitis (NEC). We obse~'ed 25 cases of segmental absence of the bowel mnscularore (SAM) causing either obstmctinn or perforation in low birth weight newborns, and we identified this type of myopathy as another important
AGA Abstracts
Ref: ~Hyer W, Bevendge I, Domizin P, Phillips RK, Clinical management and genetics of gastrointestinal polyps in children. J Paed Gastro Nutr 2000; 31:469-479
A-514