morphine and Hirschsprung-Disease

This report summarizes the clinical characteristics of intractable anemia as part of the clinical presentation of Hirschsprung's disease (HD) and aims to strengthen clinicians' ability to recognize early signs of HD.. An 11-year-old boy with a 6-year history of intractable anemia, low hemoglobin level (55 g/L), poor response to oral iron supplementation and blood transfusion, and difficulty with defecation was diagnosed with HD. A 19-month-old boy with a 3-month history of intractable anemia, low hemoglobin level (64 g/L), poor response to oral iron supplementation and blood transfusion, delayed meconium passage, and history of intestinal obstruction was also diagnosed with HD. Both patients underwent surgery, after which anemia was corrected effectively in both cases. Two more cases of intractable anemia as the chief complaint and diagnoses of HD over different durations since the onset of anemia (ranging from 1.7 years to 21 years) were identified in a literature search. Both patients underwent surgery, after which anemia was corrected.. Intractable anemia as part of the clinical presentation of HD is extremely rare. Detailed inquiries of medical histories and physical examinations are key to early diagnoses and preventing misdiagnoses. Anemia in HD patients may primarily be caused by impaired iron absorption due to HD.

Topics: Child; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Physical Examination

In the majority of infants and children with constipation, no obvious cause can be identified. A rare cause of constipation is Hirschsprung disease (HD). HD is characterized by the absence of ganglion cells from the anorectum for a variable length up to the duodenum. The extent of the aganglionic segment varies, but in most patients the lesion does not extend beyond the rectum and sigmoid colon. This review focuses on the passage of meconium, the recognition of HD, and new insights in its pathophysiology and genetics. The authors also provide a summary of the diagnostic evaluation and treatment of HD in infancy and childhood.

Topics: Child; Child, Preschool; Constipation; Hirschsprung Disease; Humans; Infant; Meconium

Rectal biopsies are performed as a definitive means of diagnosing Hirschsprung's Disease (HD) in children presenting with constipation. The authors hypothesized that key features in the history, physical examination, and radiographic evaluation would allow us to avoid unnecessary rectal biopsies.. A retrospective analysis was conducted on patients undergoing rectal biopsy between 1995 and 2001. Patients with HD were identified (n = 50), and a concurrent cohort of patients with idiopathic constipation (IC; n = 50) was selected. Pertinent features in patients with HD versus those with IC were cross tabulated using Pearson Chi2 testing (significance was P <.05).. Sixty percent of patients with HD and 15% of patients with IC experienced onset of symptoms in the first week of life. HD patients more frequently experienced delayed passage of meconium (P <.05), abdominal distension (P <.05), vomiting (P <.05), and transition zone on contrast enema (P <.05). All patients with HD had one or more of these significant features. In contrast, only 64% of patients with IC had one or more of these features. The classic triad of symptoms (ie, delayed passage of meconium, vomiting, and abdominal distension) was present in 18%, and one or more of these symptoms was present in 98% of HD patients. In contrast, only 60% of patients with IC had a history of delayed passage of meconium, vomiting, or abdominal distension.. A history of delayed passage of meconium, abdominal distension, vomiting or the results of a contrast enema identified all patients with HD and excluded HD in approximately 36% of patients with idiopathic constipation. The authors have shown that key features in a patient's history, physical examination, and radiologic evaluation can differentiate between HD and IC. In a child presenting with constipation and none of the above features, it is not necessary to perform a rectal biopsy to exclude HD.

Topics: Adolescent; Age of Onset; Barium Sulfate; Biopsy; Child; Child, Preschool; Cohort Studies; Constipation; Diagnosis, Differential; Enema; Enterocolitis; Fecal Impaction; Female; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Male; Meconium; Physical Examination; Rectum; Retrospective Studies; Unnecessary Procedures; Vomiting

Intestinal obstruction in the newborn infant may be due to a variety of conditions, including atresia and stenosis, annular pancreas, malrotation, duplication cyst, meconium ileus, meconium plug syndrome and neonatal small left colon syndrome, and Hirschsprung's disease. Neonates with unrecognised intestinal obstruction deteriorate rapidly, show an increase of associated morbidity and appropriate surgical treatment becomes more hazardous. Early diagnosis depends largely on the prompt detection of obstructive manifestations by the clinician and the subsequent accurate interpretation of radiographic findings by the radiologist. Plain film of the abdomen is often helpful in determining the level of obstruction and usually dictates, together with clinical symptoms, the choice of the contrast study firstly to perform. In this article we will review the clinical and radiological signs of different pathological conditions causing intestinal obstruction in the newborn.

Topics: Colon; Constriction, Pathologic; Contrast Media; Cysts; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Diseases; Intestinal Obstruction; Intestines; Meconium; Pancreas; Radiography; Syndrome; Torsion Abnormality

Timely passage of the first stool is a hallmark of the well-being of the newborn infant. Failure of a full-term newborn to pass meconium in the first 24 hours may signal intestinal obstruction. Lower intestinal obstruction may be associated with disorders such as Hirschsprung's disease, anorectal malformations, meconium plug syndrome, small left colon syndrome, hypoganglionosis, neuronal intestinal dysplasia and megacystis-microcolon-intestinal hypoperistalsis syndrome. Radiologic studies are usually required to make the diagnosis. In addition, specific tests such as pelvic magnetic resonance imaging, anorectal manometry and rectal biopsy are helpful in the evaluation of newborns with failure to pass meconium.

Topics: Anal Canal; Colonic Diseases; Congenital Abnormalities; Diagnosis, Differential; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Rectum; Syndrome

Many different pathophysiologic conditions can affect the neonatal intestinal tract and ultimately require surgical intervention. The symptomatology is primarily that of bowel dysfunction and obstruction. A thorough understanding of these disease processes is necessary of the managing physician. With this knowledge, a systematic course of resuscitation, evaluation, and treatment can be instituted, usually with predictably gratifying results for patient, family, and physician alike.

Topics: Duodenal Obstruction; Enterocolitis, Pseudomembranous; Fluid Therapy; Hirschsprung Disease; Humans; Ileum; Infant, Newborn; Intestinal Atresia; Intestinal Diseases; Intestinal Obstruction; Jejunum; Meconium; Resuscitation

Haddad syndrome is a rare congenital disorder characterized by congenital central hypoventilation syndrome and Hirschsprung disease. Total colonic aganglionosis is a rare and long-segment form of Hirschsprung disease, which is primarily diagnosed using contrast enemas. However, the diagnostic performance of contrast enemas is relatively low, making the diagnosis of total colonic aganglionosis challenging. In neonates, ultrasound may be used as an additional imaging modality for the diagnosis of Hirschsprung disease. We describe the unique sonographic findings of total colonic aganglionosis in a term neonate with failure to pass meconium and respiratory distress, who was subsequently diagnosed with Haddad syndrome.

Topics: Hirschsprung Disease; Humans; Hypoventilation; Infant, Newborn; Meconium; Sleep Apnea, Central

Meconium plug syndrome (MPS) is associated with Hirschsprung disease (HD) in 13-38% of cases. This study sought to assess institutional variation in utilization of rectal biopsy in children with MPS and the likelihood of diagnosing HD in this population.. Patients with MPS on contrast enema in the first 30 days of life from the Pediatric Health Information System database in 2016-2017 were included. Institutional rates of rectal biopsies performed during the initial admission were calculated and then used to predict institutional rates of early HD diagnoses using Poisson regression.. Of 373 newborns with MPS, 106 (28.4%) underwent early rectal biopsy, of whom 43 (40.5%) had HD. Fifty-seven (15.3%) were ultimately diagnosed with HD. Eight (14%) of these patients had a delayed diagnosis. HD rates between institutions did not differ significantly (range 0-50%, p=0.52), but usage of early rectal biopsy did (range 0-80%, p=0.03). Each additional early biopsy increased the early HD diagnosis rate by 35% (β=0.30, 95% CI 0.15-0.45, p<0.0001).. The incidence of HD is increased in children with MPS. There is significant hospital variability in the utilization of early rectal biopsy, and opportunity exists to standardize practice.. Study of Diagnostic test Level of Evidence: Level III.

Topics: Biopsy; Fetal Diseases; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Meconium; Retrospective Studies

Topics: Diagnosis, Differential; Female; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Meconium; Vomiting

Topics: Biopsy; Diagnosis, Differential; Enema; Hirschsprung Disease; Humans; Infant, Newborn; Male; Meconium; Radiography, Abdominal

When abdominal distention occurs or bowel obstruction is suspected in the neonatal period, a water-soluble contrast enema is helpful for diagnostic and therapeutic purposes. The water-soluble contrast medium is evacuated through the anus as well as excreted via the kidneys in some babies. This study was designed to evaluate the incidence of renal excretion after enemas using water-soluble contrast media and presume the causes.. Contrast enemas using diluted water-soluble contrast media were performed in 23 patients under 2 months of age. After the enema, patients were followed with simple abdominal radiographs to assess the improvement in bowel distention, and we could also detect the presence of renal excretion of contrast media on the radiographs. Reviewing the medical records and imaging studies, including enemas and consecutive abdominal radiographs, we evaluated the incidence of renal excretion of water-soluble contrast media and counted the stay duration of contrast media in urinary tract, bladder, and colon.. Among 23 patients, 12 patients (52%) experienced the renal excretion of water-soluble contrast media. In these patients, stay-in-bladder durations of contrast media were 1-3 days and stay-in-colon durations of contrast media were 1-10 days, while stay-in-colon durations of contrast media were 1-3 days in the patients not showing renal excretion of contrast media. The Mann-Whitney test for stay-in-colon durations demonstrated the later evacuation of contrast media in the patients with renal excretion of contrast media (p = 0.07). The review of the medical records showed that 19 patients were finally diagnosed as intestinal diseases, including Hirschsprung's disease, meconium ileum, meconium plug syndrome, and small bowel atresia or stenosis. Fisher's exact test between the presence of urinary excretion and intestinal diseases indicated a statistically significant difference (p = 0.04).. The intestinal diseases causing bowel obstruction may increase the water-soluble contrast media's dwell time in the bowel and also increase urinary excretion.

Topics: Contrast Media; Diatrizoate Meglumine; Enema; Female; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Diseases; Intestine, Small; Male; Meconium; Radiography, Abdominal; Renal Elimination

The majority of bowel obstructions in extremely low birth weight (ELBW) neonates are meconium-related ileus (MRI). ELBW neonates with bowel obstruction may recover by conservative treatment, but some do not. Considering the high surgical morbidity rates, unnecessary surgery should be avoided. We sought to identify a reasonable treatment strategy under these conditions.. ELBW neonates who started to have bowel obstruction with an unclear cause within 14 days of age were enrolled. The study period was from January 2009 to August 2011. The enrolled patients had daily Gastrografin(®) enemas until 14 days of age or until the obstruction resolved. If the obstruction lasted beyond around 14 days of age, the patient underwent surgical intervention. The clinical data of the patients were collected and analyzed.. Fourteen patients were enrolled. Twelve patients had MRI, which resolved within 14 days without surgery. Two patients with persistent obstruction underwent surgery, and they were found to have Hirschsprung's disease and ileal volvulus, respectively.. For ELBW neonates with bowel obstruction of unclear etiology, the early and frequent administration of a Gastrografin(®) enema is reasonable. Surgery should be considered if the obstruction lasts beyond approximately 14 days after birth.

Topics: Age Factors; Diatrizoate Meglumine; Digestive System Surgical Procedures; Enema; Female; Hirschsprung Disease; Humans; Ileus; Infant, Extremely Low Birth Weight; Infant, Newborn; Male; Meconium; Treatment Outcome

Enterostomy formation is a common outcome in emergency neonatal laparotomy. No consensus exists regarding optimal stoma site. This study aims to identify incidence of complications and closure details related to position of stomas.. This study is a retrospective case note review of emergency neonatal enterostomy formation over 11 years at a single institution. Patients were separated into two groups: stomas created through the laparotomy wound and stomas created through a separate incision. Demographic details, complications and closure details were ascertained. Differences between groups were analysed (Mann-Whitney test for continuous variables, Chi-squared test or Fisher's exact test for categorical variables).. One hundred and thirteen stoma formations were examined in 106 patients (71 within laparotomy wound, 42 through a separate incision). Age, gestation, weight, wound-related and stoma-related complications were not significantly different between the groups. A trend towards a higher rate of full laparotomy at closure with stomas through the wound (p = 0.09) was seen. If stomas were sited adjacently, there was no difference in avoidance of full laparotomy at closure (p = 0.97).. Stomas sited adjacently within the laparotomy wound are not related to increased complications and offer the same advantage of circumexcision at closure as stomas sited through a separate wound, without an additional abdominal wound.

Topics: Biliary Atresia; Emergencies; Enterocolitis, Necrotizing; Enterostomy; Hirschsprung Disease; Humans; Ileus; Infant, Newborn; Laparotomy; Meconium; Postoperative Complications; Retrospective Studies

The significance of meconium plug syndrome (MPS) is unclear but has been associated with Hirschsprung's disease and magnesium tocolysis. We reviewed our experience to attempt to identify any potential association with these conditions and to review our outcomes.. Using the International Classification of Diseases, Ninth revision, code for meconium obstruction, patient charts were identified during the 1998-2008 period. A total of 61 cases of MPS were found, after excluding 7 of meconium ileus. Data regarding the hospital course and outcomes were collected and analyzed.. Approximately 30% of patients had spontaneous resolution of the meconium plug without any treatment. Of those patients requiring treatment, contrast barium enema was used, with 97% success. Only 2 patients required surgical intervention owing to worsening distension and subsequent peritonitis. When we stratified the patients according to gestational age of >36 and <36 wk, contrast barium enemas were performed 2.2 ± 1.8 versus 8.6 ± 7.8 d after birth (P = 0.003), respectively, and the lower gestational age patients had a longer length of stay. Contrast barium enema was still successful in 94% of patients with a gestational age of <36 wk. Magnesium tocolysis was noted in 16% of the cases, and Hirschsprung's disease was only found in 3.2% of patients.. Patients with MPS have excellent outcomes, independent of gestational age. Contrast barium enema remains the initial diagnostic and treatment of choice for patients with MPS. Also, although previous reports have shown a link between magnesium tocolysis and Hirschsprung's disease with MPS, our experience suggests otherwise.

Topics: Barium Sulfate; Cystic Fibrosis; Enema; Female; Hirschsprung Disease; Humans; Ileal Diseases; Incidence; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Retrospective Studies; Syndrome; Treatment Outcome

The time of passing meconium and the subsequent stooling pattern is an important marker in the diagnosis of colonic motility problems in newborns, particularly in Hirschsprung's disease (HD).. A cross-sectional study of the passage of meconium and stooling pattern in 280 normal newborns was undertaken using questionnaires administered to mothers attending a postnatal clinic.. There were 143 boys and 137 girls aged 6-49 days (median 19 days); 266 (95%) had been full-term infants, 252 (90%) normal deliveries and 28 (10%) delivered by caesarean section. The birthweight of 25 (9%) had been <2.5 kg. Of 267 infants whose mothers knew the time of first passing meconium, it had been delayed for up to 48 hours in 45 (16.9%) and up to 72 hours in 15 (5.6%), and six (2.2%) passed meconium after 72 hours. Overall, 201 (75.3%) passed meconium within 24 hours of birth, 246 (92.1%) within 48 hours and 261 (97.8%) within 72 hours. Irrespective of the time of passing meconium, 80 (31%) infants continued to pass stools at least once daily, 107 (42%) twice daily and 65 (24%) three or more times daily. Only 11 infants were on artificial milk along with breast milk; the remainder were exclusively breastfed. Mode of delivery, birthweight and artificial milk had no effect on time of passing meconium and the subsequent stooling pattern.. This study has shown that only 76% of normal infants passed first meconium within 24 hours and, by 3 days of life, a small minority still had not passed meconium. Nearly all normal infants being breastfed should defaecate at least once daily. These findings should be useful in the evaluation of newborns suspected to have HD in this and similar settings.

Topics: Birth Weight; Breast Feeding; Cross-Sectional Studies; Defecation; Female; Gastrointestinal Motility; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Male; Meconium; Nigeria; Predictive Value of Tests; Time Factors

We are reporting the case of a neonate which died on 16th day of life due to a fatal evolution of a rare association of cystic fibrosis and Hirschsprung's disease.

Topics: Colonic Diseases; Cystic Fibrosis; Fatal Outcome; Hirschsprung Disease; Humans; Ileal Diseases; Ileus; Infant, Newborn; Male; Meconium

Meconium peritonitis is a rare disease with a fatal outcome. In Nigeria and Africa, there are only the occasional case reports on the subject matter.. This is a 10-year retrospective study of all patients with meconium peritonitis treated at the University of Maiduguri Teaching Hospital, Maiduguri, Borno State, the Lagos University Teaching Hospital, Lagos State, Obafemi Awolowo University Teaching Hospitals complex, Ile-Ife, Osun State and the Federal Medical Centre Gombe, Gombe State, Nigeria.. There were 10 neonates comprising 6 girls and 4 boys. The median age at presentation was 4 days (range 2-6 days). Six of the mothers of the children with meconium peritonitis had a supervised antenatal care and 4 had antenatal ultrasonography but meconium peritonitis was missed. The most common clinical presentation was abdominal distension at birth in 9 of 10 patients. The abdominal X-rays showed calcification and homogenous opacity in 4 patients and pneumoperitoneum in 2 patients. At laparotomy, all the patients had inflammatory adhesion bands and matted bowel loops. The generalized type was the commonest form observed (7 patients) and giant pseudocyst was noted in 2 patients. The commonest sites of perforation were the ileum in 4 patients and jejunum in 3 patients. In one patient the perforation had sealed at laparotomy. Intestinal obstruction was the commonest cause of meconium peritonitis in 7 of 10 patients. In the remaining 3 patients the cause is unknown. The commonest procedure performed was resection and anastomosis (4 patients). The mortality rate was high (50%).. Our data revealed the rarity of meconium peritonitis and intestinal obstruction as the commonest cause. It is recommended that in patients with an unidentifiable cause a rectal biopsy should be done to rule out Hirschsprung's disease. Early diagnosis, proper operative procedure and meticulous post-operative care should improve their survival.

Topics: Female; Hirschsprung Disease; Humans; Infant, Newborn; Laparotomy; Male; Meconium; Nigeria; Peritonitis; Prenatal Diagnosis; Retrospective Studies; Treatment Outcome

The significance of meconium plug syndrome is dependent on the underlying diagnosis. The incidence of pathologic finding, particularly Hirschsprung's disease, contributing to the presence of these plugs, has been debated. However, there are little recent data in the literature. Therefore, we reviewed our experience with meconium plugs as a cause of abdominal distension to evaluate the associated conditions and incidence of Hirschsprung's disease.. We reviewed the records of newborns with meconium plugs found in the distal colon on contrast enema from 1994 to 2007. Demographics, radiologic findings, histologic findings, operative findings, and clinical courses were reviewed.. During the study period, 77 patients were identified. Mean gestational age was 37.4 weeks and birth weight, 2977 g. Hirschsprung's disease was found in 10 patients (13%). One had ultrashort segment disease and another had total colonic aganglionosis. Maternal diabetes was identified in 6 patients. No patients were diagnosed with cystic fibrosis, meconium ileus, malrotation, or intestinal atresia.. Meconium plugs found on contrast enema are associated with a 13% incidence of Hirschsprung's disease in our experience. Although all patients with plugs and persistent abnormal stooling patterns should prompt a rectal biopsy and genetic probe, the incidence of Hirschsprung's and cystic fibrosis may not be as high as previously reported.

Topics: Comorbidity; Female; Gestational Age; Hirschsprung Disease; Humans; Ileus; Incidence; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Length of Stay; Male; Meconium; Pregnancy; Pregnancy in Diabetics; Retrospective Studies; Syndrome

The initial clinical presentation and radiographic finding of microcolon in children with long-segment intestinal aganglionosis involving the entire colon, ileum and sometimes the jejunum can mimic meconium ileus. This makes the diagnosis difficult for the radiologist and surgeon.. To document and describe the clinical and radiographic findings in children with long-segment intestinal aganglionosis who are initially thought to have meconium ileus.. We reviewed the cases of six neonates with long-segment intestinal aganglionosis presenting as meconium ileus at our institutions between 1978 and 2002. We examined the clinical presentation and the radiographic, surgical, and pathologic findings. In addition, 17 cases from the literature were identified and are included in the discussion.. A total of 23 cases were reviewed. Right lower quadrant intraluminal calcifications were noted on abdominal radiographs in all six neonates of our series and were described in 13 of the 17 neonates reported in the literature. Similarly, a microcolon was present in five of the six neonates of our series and in 14 of 16 historical neonates (one not reported).. In a neonate with small-bowel obstruction and a microcolon, the presence of right lower quadrant intraluminal calcifications should raise the suspicion of long-segment intestinal aganglionosis even if the operative findings are typical of meconium ileus and a biopsy should be performed.

Topics: Biopsy; Calcinosis; Colon; Diagnosis, Differential; Hirschsprung Disease; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Radiography; Rectum; Retrospective Studies

Sixty-eight neonates with functional ileus were reviewed. Twelve required laparotomy; in seven, histological studies revealed decreased ganglia and ganglion cells of the myenteric plexus (MP) (Group A), and in five, MP was normal (Group B). In the remaining 56 cases, obstructive symptoms were relieved following conservative therapy (Group C). All Group A cases except one had normal birth weight, while Group B and C cases showed significantly lower birth weights. A marked caliber change of the small intestine and/or small-caliber distal intestine with meconium stagnation in the proximal intestine was commonly demonstrated at operation in Group A and B, or on contrast enema in Group C. Four Group A cases died of enteritis, and three survivors suffered from prolonged obstructive symptoms. The grade of histological abnormality of MP correlated with the clinical outcome. In Group B, three died of sepsis shortly after surgery, but two survivors have been free from symptoms. Group A can be categorized as Hirschsprung's disease-allied disorders (HAD). Group B and C can be categorized as meconium-related ileus (MRI). The similarity of the macroscopic findings of HAD and MRI, and the occurrence of MRI exclusively in low birth weight neonates, strongly suggest that functional immaturity of MP plays a role in the etiology of MRI.

Topics: Ganglia; Hirschsprung Disease; Humans; Immunohistochemistry; Infant; Infant, Newborn; Intestinal Obstruction; Meconium; Myenteric Plexus

Neuroblastoma, Hirschsprung's disease, and central hypoventilation (Ondine's curse) are considered aberrations of neural crest cell growth, migration, or differentiation, and as such are considered to be under the general heading of neurocristopathy. Their combined occurrence in a newborn infant presenting with total colonic aganglionosis, central hypoventilation, and multifocal neuroblastoma had not been reported previously. A 2.3-kg white full-term girl required endotracheal intubation because of persistent apnea in the first hours of life. She had progressive abdominal distension and failure to pass meconium; a barium enema was performed, which showed microcolon with meconium pellets at the distal ileum. During laparotomy the distal ileum was found to be obstructed with inspissated meconium; an ileostomy and appendectomy were performed. The resected specimens were aganglionic. An additional 20 cm of aganglionic ileum was removed, and a normally innervated ileostomy was constructed. Numerous attempts at extubation failed because of apnea. The results of an extensive apnea workup, including electroencephalogram, magnetic resonance imaging (MRI), bronchoscopy, and pH probe study, were normal. Sleep studies showed congenital central hypoventilation syndrome, and the patient underwent a tracheostomy. At 3 months, an abdominal ultrasound examination performed within a septic workup showed a right suprarenal mass extending across the midline. Thoracic and abdominal MRI scans showed large bilateral adrenal and posterior mediastinal masses. The serum catecholamines and ferritin level were markedly elevated, suggestive of neuroblastoma. In light of the child's multiple problems, the family chose to forgo further workup (including a tissue biopsy) and therapy. In the following 2 months her tumor load rapidly progressed, and she died of respiratory insufficiency.(ABSTRACT TRUNCATED AT 250 WORDS)

Topics: Adrenal Gland Neoplasms; Colonic Diseases; Female; Follow-Up Studies; Hirschsprung Disease; Humans; Ileal Diseases; Infant, Newborn; Intestinal Obstruction; Meconium; Mediastinal Neoplasms; Neural Crest; Neuroblastoma; Sleep Apnea Syndromes; Tracheostomy

Seven full-term infants with aganglionosis extending into the small bowel presented with clinical, radiological, and operative features of meconium ileus. Misdiagnosis resulted in inappropriate treatment. The correct diagnosis was eventually established by rectal suction biopsy, mostly after either recurrent intestinal obstruction or stomal dysfunction, and after cystic fibrosis had been excluded. For two patients, the results of rectal suction biopsies were initially misleading. Two infants died. Extensive intestinal aganglionosis should be considered a rare possibility in all infants with meconium ileus. In such cases, histological examination of the appendix may avoid this potential pitfall.

Topics: Biopsy, Needle; Female; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Intestine, Small; Male; Meconium; Rectum

We identified 21 children (14 boys and seven girls) with long-segment Hirschsprung's disease defined as aganglionosis extending proximal to the ileocecal valve. Long-segment Hirschsprung's disease is difficult to diagnose and treat; symptoms may be mild, and diagnosis delayed. Abdominal distention and constipation or delayed passage of meconium are the most common symptoms. Radiologic studies are unreliable in establishing the diagnosis. The morbidity rate is high because of the high transition zone and short gut. The long-term outcome of patients after the standard Duhamel procedure is satisfactory, except with extremely high transition zones. Pull-through procedures should not be performed in the small infant, but should be delayed until patients are old enough to be continent.

Topics: Abdomen; Constipation; Female; Follow-Up Studies; Hirschsprung Disease; Humans; Ileal Diseases; Ileocecal Valve; Ileostomy; Infant; Infant, Newborn; Male; Meconium; Survival Rate; Vomiting

Abdominal plain films of 133 neonates, with 82 cases of meconium plug syndrome (MPS), 27 cases of meconium ileus (MI) and 24 cases of neonatal Hirschsprung's disease (HD), were reviewed to assess the value of such radiographs for diagnosis. The radiographs were examined according to a list of 11 parameters. By using multivariate discriminant analysis, it appeared that 4 parameters i.e. dilatation of bowel loops, varying loop calibre, fluid levels and colonic gas were most important in discriminating among the three disorders. For each parameter the weight (in points) was derived. To classify patients, three group-scores had to be calculated: the group-score with the largest value indicated the most likely disorder. So in 99%, 88% and 63% of MPS, HD and MI, respectively, an accurate diagnosis could be predicted. The overall diagnostic accuracy was 89%. Such a diagnosis can be a sound basis for further investigation.

Topics: Dilatation, Pathologic; Female; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Radiography; Syndrome

39 newborns with an acute form of Hirschsprung's disease were under observation: rectal form 18%, recto-sigmoid 28.2%, subtotal 25.6%, total 28.2%. Clinical manifestations appeared soon after the birth and were characterized by the impediment of the meconium discharge, vomiting or eructations, abdominal swelling. The evaluation of the validity of histochemical and histological diagnostic methods in infants and morphologic description of the tissue acetylcholinesterase activity are presented. Hypoganglionic form of the disease was found in 4 cases. Clinical and morphologic picture of the hypogangliosis in newborns is described.

Topics: Acetylcholinesterase; Acute Disease; Female; Hirschsprung Disease; Histocytochemistry; Humans; Infant; Infant, Newborn; Male; Meconium; Predictive Value of Tests

Topics: Anastomosis, Surgical; Female; Hirschsprung Disease; Humans; Ileal Diseases; Ileostomy; Infant, Newborn; Intestinal Obstruction; Intestines; Meconium; Myenteric Plexus; Postoperative Complications; Reoperation

Topics: Anus, Imperforate; Enterocolitis, Pseudomembranous; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Obstruction; Meconium

Topics: Cystic Fibrosis; Diagnosis, Differential; Hirschsprung Disease; Humans; Ileal Diseases; Infant, Newborn; Infant, Premature, Diseases; Intestinal Obstruction; Male; Meconium

A prospective study, followed by a retrospective audit, was made of the radiographs and clinical features of 225 consecutive neonates with abdominal distension presenting during a period of 4 years. More than one major cause for the distension was found in a third of cases. Excluding cases of ano-rectal atresia, diagnostic difficulties were encountered in 31% of cases and, occasionally, the diagnosis was revised several times as investigations proceeded. Neuhauser's sign of 'bubbly' meconium is unreliable, being found in cases of meconium ileus, ileal atresia, Hirschsprung's disease and necrotising enterocolitis. Concomitant small-bowel atresia should be suspected in all cases of meconium ileus; intestinal malrotation should be considered in association with duodenal and intestinal atresias. In the absence of an obvious anatomical defect, it is difficult to differentiate between the various causes of functional obstruction by radiological means alone and all such infants should be referred to a specialised centre for intensive investigation and treatment. Very often, the skills of a neonatologist, paediatric surgeon and, especially, an experienced pathologist will be required in addition to those of the radiologist.

Topics: Anal Canal; Contrast Media; Enterocolitis, Pseudomembranous; Hirschsprung Disease; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Intestinal Obstruction; Intestine, Small; Meconium; Prospective Studies; Radiography, Abdominal; Rectum; Retrospective Studies

Topics: Adult; Carcinoma; Female; Hirschsprung Disease; Humans; Hyperparathyroidism; Infant, Newborn; Intestinal Obstruction; Male; Meconium; Multiple Endocrine Neoplasia; Pedigree; Pheochromocytoma; Quebec; Thyroid Neoplasms

Due to its varied mode of presentation, Hirschsprung's disease continues to be a diagnostic problem. To identify features that might facilitate diagnosis a retrospective review of 37 patients seen was carried out over a nine-year period. The usual presentation in neonates was failure to pass first meconium, or its delayed passage associated with abdominal distention: in a few of these the distension was accompanied by persistent non-specific diarrhoea. In many of the older children, the distension was accompanied by progressive constipation with or without episodic diarrhoea, usually following delayed passage of first meconium. The classical textbook findings on rectal examination and following barium enema were absent in most of the patients and especially in the neonates. Infection and malnutrition were identified as two of the main causes of a high post-operative mortality of 35%.

Topics: Abdomen; Adolescent; Child; Child Nutritional Physiological Phenomena; Child, Preschool; Female; Hirschsprung Disease; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Male; Meconium; Physical Examination; Radiography; Rectum

Meconium diseases in infancy cannot be neatly separated into discrete categories of meconium plug syndrome, meconium ileus, and meconium peritonitis; nor can the therapy of each condition. A patient with any of the three may or may not have cystic fibrosis. All babies with any form of meconium obstruction or atresia must have a sweat chloride test to confirm or rule out this diagnosis. Repeated gastrografin enemas can decrease the need for operative intervention in all babies with meconium plug syndrome and in selected babies with meconium ileus. Babies with meconium diseases can now be managed with a low perinatal mortality.

Topics: Barium Sulfate; Cystic Fibrosis; Female; Hirschsprung Disease; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intestinal Obstruction; Male; Meconium; Peritonitis; Retrospective Studies

Topics: Abdomen, Acute; Child, Preschool; Cystic Fibrosis; Duodenal Diseases; Esophagus; Female; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intestinal Obstruction; Intestinal Perforation; Male; Meckel Diverticulum; Meconium; Posture; Pyloric Stenosis; Radiography

A mass of inspissated meconium in the distal colon or rectum is a relatively common cause of neonatal intestinal obstruction. The meconium-plug syndrome is unrelated to cystic fibrosis and meconium ileus. The clinical picture is frequently indistinguishable, without contrast study of the colon, from other forms of mechanical intestinal obstruction requiring laparotomy. A barium enema examination is almost always diagnostic, and use of this procedure usually results in dislodgement and passage of the plug.No single cause for the excessive viscosity and tenaciousness of the obstructive meconium mass has been identified. Previous reports have generally emphasized the normal ganglion-cell content of the colon in affected patients.Two infants are described who fulfilled all criteria for this syndrome but who were not rendered asymptomatic, as normally anticipated, by removal of the plug. Subsequent studies revealed the presence of Hirschsprung's disease in both patients. This diagnosis should be considered when an infant with meconium-plug obstruction of the colon fails to follow the usual satisfactory clinical course after the plug has been passed.

Topics: Barium Sulfate; Colonic Diseases; Colostomy; Cystic Fibrosis; Enema; Fetal Diseases; Hirschsprung Disease; Humans; Ileus; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Laparotomy; Male; Meconium; Megacolon; Radiography; Rectum; Syndrome

Topics: Hirschsprung Disease; Humans; Ileus; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Meconium; Megacolon; Mesentery