• Advances in pediatric surgery
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• v.4 no.1
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• pp.74-78
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• 1998

Early recognition and surgical treatment of Hirschsprung's disease prevents serious mortality and morbidity from enterocolitis and obstruction. Usually this disease is characterized by a single aganglionic segment of the colon extending distally to the anal margin. In surgical treatment, the surgeon performs a frozen section biopsy to confirm whether there are ganglion cells. If there are intervening ganglionic sites in aganglionic bowel, there may be confusion in diagnosis and treatment. The authors experienced one case of total colonic aganglionosis with skip area. A transverse loop colostomy was performed on a 7 day-old male baby with colon perforation due to Hirschsprung's disease. But intestinal obstruction persisted and required two more operations to find the true nature of the disease. There were aganglionic segments from the anal margin to the terminal ileum 3.7cm proximal to the ileocecal valve. The entire transverse colon and appendix were normally ganglionated.

• Advances in pediatric surgery
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• v.7 no.2
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• pp.105-111
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• 2001

To investigate the diagnostic accuracy and applicability of barium enema(BE) and rectal suction biopsy with acetyl cholinesterase(AChE) histochemistry in the diagnosis of neonatal Hirschsprung's disease(HD), we retrospectively reviewed the findings of BE and AChE staining in 96 neonates with suspected HD during a 10-year period from January 1991 to December 2000. Sixty-nine cases of HD(58 males and 11 females) and 27 cases of non-HD are included in this study. In regard to BE, HD was based on definite transitional zone, suspicious HD on reversed rectosigmoid index(RSI <1), and non-HD on normal RSI(RSI>1). The histochemical criterion used for the diagnosis of HD was that of Chow et al(1977), i.e., the presence of many coarse discrete cholinergic nerve fibers in the muscularis mucosae and in the immediately subjacent submucosa regardless of infiltration of cholinergic nerve fibers in the lamina propria. Of 66 neonates with HD who underwent BE, transitional zone was identified in 33 cases(50 %) and reversed RSI in 19 cases(21 %), microcolon in 4 cases and normal finding in 10 cases(15 %) while of 27 neonates with non-HD, there was normal finding in 16 cases and reversed RSI in 9 cases(41 %). Thus diagnostic accuracy based on transitional zone was 64 %. The positive predictive value of reversed RSI for the diagnosis of HD was 68 %. Of 42 neonates with HD who underwent AChE histochemistry, there were 41 AChE-positive reactions and one AChE-negative reaction in a neonate with total colonic aganglionosis, while of 27 cases of non-HD, there were one equivocal AChE-positive reaction and 26 AChE-negative reactions. Thus AChE histochemical study showed a 97 % diagnostic accuracy with a 98 % sensitivity and a 96 % specificity. In conclusion, we believe that BE is valuable as a first diagnostic step since about 80 % of neonates with HD show significant radiologic findings such as a transitional zone or reversed RSI. AChE histochemical study was a more reliable diagnos tic tool showing a 97 % diagnostic accuracy, and is part.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.12 no.2
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• pp.194-198
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• 2009

Purpose: Severe abdominal distension is not uncommon symptom in the neonate. Two major causes of this symptom are benign transient intestinal ileus (BTII) and Hirschsprung`s disease (HD). But it is difficult to differentiate BTII from HD based on the symptoms and simple abdominal x-ray findings. The aim of this retrospective study was to assess the clinical aspects and diagnostic tests differencing two diseases. Methods: From August 2004 to March 2009, nineteen patients with severe abdominal distension, who underwent barium enema, anorectal manometry, and rectal suction biopsy (triple tests) due to a suspicion of HD, were enrolled. A comparison of clinical data associated with BTII and HD based on the clinical features and results of triple tests. Results: The age of onset of symptom was between 2 and 6 weeks in BTII and within 3 weeks in HD. On the barium enema, transitional zone revealed in 6 (50%) patients in BTII and 4 (57.1%) in HD. On anorectal manometry, the anorectal inhibitory reflex was present in 11 (91.7%) patients in BTII and 1 (14.3%) in HD. On rectal suction biopsy, ganglion cell was present in 9 (75%) patients in BTII and 0 (0%) in HD. Abdominal distension was improved within 3 months of life in all cases of BTII. Conclusion: We think that anorectal manometry may be more simple and useful diagnostic method than barium enema and rectal suction biopsy for differential diagnosis of transient intestinal ileus and Hirschsprung's disease.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect in the migration of neuronal cells from the neural crest (neurocristopathy) during the intrauterine period. A diagnosis of CCHS is made by confirming the failure of adequate ventilation in response to hypercapnea and hypoxia during sleep and the exclusion of other diseases. Young infants frequently show atypical clinical courses, and their conditions are frequently complicated with the long-term sequela of hypoxemic episodes. Therefore, a high index of suspicion and active treatment with mechanical ventilation are important for reducing recurrent hypoxemic episodes in the neonatal period. This paper reports the follow up of a case of CCHS in a neonate who showed frequent intractable apnea and cyanosis and was given artificial mechanical ventilation during sleep.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.252-256
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• 2005

The combination of Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, belongs to the family of diseases now designated as Neurocristopathies. We have experienced a case of Haddad syndrome in a male infant who presented with repetitive abdominal distension, bilious vomiting, and sleep apnea. Following colon study and rectal biopsy disclosed the absence of the ganglion cell. And the infant could not be weaned from mechanical ventilation since birth because of the absence of effective, spontaneous respiration during sleep. As he was diagnosed as Haddad syndrome, tracheostomy and ileostomy were performed consecutively. At the age of 4 months, he was relatively healthy but remained ventilator-dependent. We report the first Korean case of Haddad syndrome with a brief review of the related literature.

• Advances in pediatric surgery
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• v.18 no.2
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• pp.75-82
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• 2012

In one-stage transanal endorectal pull-through operation (TERPT) for Hirschsprung disease, preoperative evaluation by contrast enema (CE) is important tool in aspect of planning of surgical procedure as well as diagnosis. This study was to evaluate the significance of CE for identifying the extent of aganglionic bowel. A retrospective analysis was performed in 40 patients who underwent TERPT between 2003 and 2011. The authors reviewed the CE studies and their correlation with pathologic extent of aganglionosis. Total 66 contrast enemas were performed in 40 patients. Twenty patients underwent single CE, but 20 patients required multiple CEs. In single CE group, 17 had clear radiographic transition zone, but 3 had less definite transition zone. In multiple CE group, 17 patients who had equivocal finding in first or second CE had definite radiographic transition zone, but 3 patients of this group had less definite radiographic transition zones. Overall, 34 patients (85%)had clear radiographic transition zone by single or repeated CE. One (2.9%) out of 34 patients with clear radiographic transition zone had discordance between radiographic and pathologic transition zone. In contrast 4 (66.7%) out of 6 patients with equivocal radiographic transition zone had discordance between radiographic and pathologic transition zone. Observation of clear radiographic transition zone is important in preparation of TERPT, and repeated CE is helpful to reduce the discordance between radiographic and pathologic transition zone. Awareness of the possibility of discordance is also important if radiographic transitional zone is not clear.

• Advances in pediatric surgery
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• v.16 no.2
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• pp.162-169
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• 2010

The aim of this study is to review our clinical experience with patients with Hirschsprung's disease (HD) Medical records of 39 children who underwent definitive surgery for HD at Inha University Hospital from September 1996 to June 2008 were analyzed by age at presentation, sex, gestational age, birth weight, clinical presentation, diagnostic tools, level of aganglionosis, surgical procedures, postoperative complications, and postoperative bowel function. Twenty-five patients (64.1 %) were males and 14 (35.9 %) were females. Thirty patients (76.9 %) were diagnosed and treated in the neonatal period. The transitional zone was at the rectosigmoid region in 89.7 %. Twenty-seven patients (69 %) were treated by preliminary colostomy or ileostomy. Twenty-four patients had the Duhamel operation, 6 patients anorectal myectomy, and 9 patients had transanal endorectal pull-through (TEP). Five of 9 patients who had the TEP procedure did laparoscopic assistance. Postoperatively, seventeen patients (83 %) passed stool once or more times per day and 3 patients had stool soiling. This study demonstrated that the majority of the patients had good results. To determine which treatment is most effective comparative review by operation method would be required.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.6 no.2
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• pp.202-207
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• 2003

Intestinal neuronal dysplasia (IND) is a disorder of abnormal intestinal innervation resulting in dysfunctional colonic motility. IND shares clinical features with Hirschsprung's disease but differentiated by histological findings such as hyperplasia of submucosal and myenteric plexuses, giant ganglia, ectopic ganglion cell and increased acetylcholinesterase activity in lamina propria. Although IND may exist as an isolated condition, more commonly, it occurs in association with Hirschsprung's disease. We report a case of twins affected with IND. Both children manifested with delayed passage of meconium and severe abdominal distention after birth. Barium enema in both patients showed microcolon. They underwent emergency ileostomy under the impression of total aganglionosis. But surgical biopsy specimens showed hyperganglionosis in submucosa with formation of giant ganglia. Both neonates suffers from several episodes of peudo-obstruction after the repair operation of colostomy.

• Advances in pediatric surgery
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• v.17 no.1
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• pp.15-22
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• 2011

Meconium obstruction (MO) in neonates arises from highly viscid meconium and the poor motility of the premature gut. Recently the incidence of the MO in neonates has been Increasing, but, the diagnosis and treatment of this disease have not yet been clarified. Between March 2004 and April 2010, 24 neonates were treated for MO at Severance Children's Hospital. Their clinical characteristics and treatment were reviewed retrospectively. Twenty neonates were diagnosed with MO and 4 neonates were diagnosed with Hirschsprung's disease (HD). The mean birth weight and gestational age of the 20 neonates with MO were $1.45{\pm}0.90kg$ and $31.1{\pm}4.6$ weeks, respectively. Thirteen neonates (65 %) diagnosed with MO weighed less than 1.5 kg and 10 neonates (50 %) weighed less than 1 kg. Half of the neonates with MO were treated by non-operative methods and the other half were treated by operative methods. Compared with the group that weighed over 1.5 kg, the group that weighed less than 1.5 kg were more frequently operated upon (61.5% vs. 28.5%), and contrast enemas were performed later and more frequently. Also the group that weighed less than 1.5 kg had a higher mortality rate (15.4% vs. 0%). Three of the four neonates with HD were diagnosed with long-segment aganglionosis. In conclusion, MO occurred in very low birth weight neonates more often and must be differentiated from HD. Also, MO in very low birth weight neonates should be treated with special attention due to more a complicated clinical course.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.1
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• pp.55-60
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• 2017

Intestinal hypoganglionosis is a rare innervation disorder that provides numerous nutritional, medical and surgical challenges. In this case report, we present a case of a newborn with intestinal hypoganglionosis leading to intestinal failure and intestinal failure-associated liver disease who responded to $Omegaven^{TM}$, a fat emulsion comprised of omega-3 fatty acids. $Omegaven^{TM}$ has been shown to be beneficial in the management of cholestatic liver injury. Clinical success with $Omegaven^{TM}$ was seen in this patient with a clear decrease in aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase and complete resolution of cholestasis with a direct bilirubin of zero within two weeks of initiation of $Omegaven^{TM}$. No current guidelines for the diagnosis and management of hypoganglionosis are available. We recommend a multidisciplinary approach and the use of novel therapies such as fat emulsions composed of omega-3 fatty acids for improved patient outcomes. Appropriate compassionate use protocols should be obtained from the Food and Drug Administration prior to initiation of $Omegaven^{TM}$.