1.Clinical Characteristics and Management of Benign Transient Non-Organic Ileus of Neonates: A Single-Center Experience.
Hye Kyung CHANG ; Hong KOH ; Young Ju HONG ; Eun Young CHANG ; Seok Joo HAN ; Jung Tak OH
Yonsei Medical Journal 2014;55(1):157-161
PURPOSE: The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung's disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung's disease. The aim of this study is to evaluate the clinical characteristics and proper treatment of BTNIN. MATERIALS AND METHODS: A retrospective review was made on the clinical data of 19 neonates who were treated for BTNIN between January 2008 and December 2011 at a single facility. RESULTS: Abdominal distension occurred in every patient (19/19). Other common symptoms included emesis (5/19), explosive defecation (5/19), and constipation (4/19). The vast majority of patients (15/19) experienced the onset of symptoms between 2 and 4 weeks of age. Radiograph findings from all of the patients were similar to Hirschsprung's disease. A barium study showed a transition zone in 33.4% (6/18) of the patients. However, rectal biopsy revealed ganglion cells in the distal rectum in 88.2% (15/17) of the patients, and anorectal manometry showed a normal rectoanal inhibitory reflex in 90% (9/10). All patients responded well to conservative treatment. Symptoms disappeared at the mean age of 4.9+/-1.0 months, and the abdominal radiographs normalized. CONCLUSION: BTNIN had an excellent outcome with conservative treatment, and must be differentiated from Hirschsprung's disease. A rectal biopsy and anorectal manometry were useful diagnostic tools in the differential diagnosis.
Female
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Hirschsprung Disease/diagnosis/pathology
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Humans
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Ileus/*diagnosis/pathology
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Infant, Newborn
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Male
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Rectum/pathology
;
Retrospective Studies
2.Evaluation of clinical value of anorectal manometry for diagnosis of Hirschsprung's disease in neonate.
Xue-lian ZHOU ; Fei-bo CHEN ; Bi-you OU ; Xu-ping ZHANG ; Mi-zu JIANG
Chinese Journal of Pediatrics 2004;42(9):681-683
OBJECTIVEHirschsprung's disease (HD), one of the most common causes resulting in lower intestinal obstruction in children, is prone to be misdiagnosed or to be missed from diagnosis because of its atypical clinical symptoms and inconspicuous morphological findings by barium enema X-ray. Recently, this situation has been largely ameliorated by increased comprehension of anorectal kinetics and improvement of instrument for measurement of anorectal pressure. By now, anorectal manometry (ARMM) has been regarded as a routine means for functional assessment and diagnosis for anorectal disease. Nevertheless, the accuracy rate of diagnosis of HD in neonate by ARMM remains to be elucidated. In this study the clinical evaluation of anorectal manometry as an early diagnostic method for neonates with Hirschsprung's disease was appraised.
METHODSForty-two HD patients defined by pathological study of rectal tissue obtained via rectal mucous membrane biopsy or operation were recruited in this study. ARMM was performed in liquid transmission using PC polygraph high rate gastrointestinal dynamical detection system (PC Polygraf HR, CTD-synectics, Sweden), with 4-lumen catheter with which a small 5-cm-long balloon was connected at the terminus. All children were positioned on their left side or back during the procedure and the pressure transducers were placed in the mid-axillary line level. The results of ARMM performed before operation or biopsy were compared with the results of barium enema X-ray testing. The decrease of internal anal sphincter pressure as rectoanal inhibitory reflex (RAIR) was measured based on the fluctuation curve of pressure detected. HD was defined when no decrease of anal catheter pressure was detected after insufflation (RAIR positive), and suspected HD state was assessed with the presentation of incomplete relaxation or positive/negative results coexisted (RAIR abnormal) in canal.
RESULTSThirty patients (71.43%) were diagnosed as HD by ARMM including 18 patients who showed negative response to RAIR and 12 patients whose response was abnormal. While barium enema examinations were carried out in all the 45 patients, the results showed 5 HD patients and 14 suspected HD patients, giving an overall diagnostic accuracy of 45.24%. There were also 16 patients with positive ARMM response and negative barium enema findings together, and 5 patients with negative ARMM results and positive barium enema findings at the same time. There was a significant difference between the two diagnostic methods (chi(m)(2) = 4.76, P < 0.05).
CONCLUSIONAnorectal manometry seems to be a more reliable method for diagnosis of Hirschsprung's disease in neonate than barium enema X-ray. Because ARMM is a simple, safe and non-invasive method, it can be used as a screening test of choice in neonates with clinically suspected HD. But for final diagnosis, it is reasonable to combine ARMM with other diagnostic methods in HD patients.
Anal Canal ; physiopathology ; Barium Sulfate ; Enema ; Hirschsprung Disease ; diagnosis ; Humans ; Infant, Newborn ; Manometry ; Rectum ; pathology ; physiopathology
3.Intestinal Neuronal Dysplasia.
The Korean Journal of Gastroenterology 2007;50(3):145-156
Intestinal neuronal dysplasia (IND) type B is a disease of the submucosal plexus of intestine manifesting chronic intestinal obstruction or severe chronic constipation. IND is one of intestinal dysganglionoses and clinically closely associated with Hirschsprung's disease. Until recently, it is not fully clear whether IND is a congenital malformation or an acquired secondary condition related to some gastrointestinal problems. However, recently published data and consensus reports have enhanced our understanding of the pathogenesis and management of IND. The aim of this paper was to review the current state of knowledge regarding the controversial issues of IND including the etiology, classification, diagnostic criteria, and available therapeutic intervention.
Child
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Colon/*innervation/radiography
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Constipation/etiology
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Enteric Nervous System/*abnormalities
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Ganglia/pathology
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Gastrointestinal Motility
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Hirschsprung Disease/pathology
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Humans
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Immunohistochemistry
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Intestinal Diseases/*diagnosis/pathology
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Intestinal Mucosa/pathology
4.A case of intestinal neuronal dysplasia (type B).
Shan-xian LOU ; Hong-qi SHI ; Qing-wei LIU
Chinese Journal of Pathology 2005;34(9):611-612
Autonomic Nervous System Diseases
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metabolism
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pathology
;
surgery
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Colon
;
metabolism
;
pathology
;
surgery
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Diagnosis, Differential
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Enteric Nervous System
;
abnormalities
;
pathology
;
Hirschsprung Disease
;
pathology
;
Humans
;
Infant, Newborn
;
Intestinal Diseases
;
metabolism
;
pathology
;
surgery
;
Male
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Phosphopyruvate Hydratase
;
metabolism
;
S100 Proteins
;
metabolism
5.Role of Fecal Calprotectin in Differentiating between Hirschsprung's Disease and Functional Constipation.
Fatemeh Elham MAHJOUB ; Nasim ZAHEDI ; Bahar ASHJAI ; Mohammad Taghi HAGHI ASHTIANI ; Fatemeh FARAHMAND ; Maryam MONAJEMZADEH ; Leila KASHI ; Heshmat IRANIKHAH
The Korean Journal of Gastroenterology 2013;62(5):288-291
BACKGROUND/AIMS: Calprotectin is a 36.5 kD calcium and zinc binding protein in the S100 protein family. Fecal calprotectin levels are elevated in patients with inflammatory bowel disease and some other gastrointestinal disorders such as colorectal carcinoma. We decided to evaluate the fecal calprotectin level to see if it was able to distinguish between functional and organic causes of constipation. METHODS: Seventy-six children aged 1 to 120 months that all underwent deep rectal mucosa biopsies at Children Medical Center from November 2010 till September 2011 were recruited. Nineteen cases were diagnosed as Hirschsprung's disease and 57 of the patients had nerve ganglion cells in their biopsies. Calprotectin concentration was analyzed by the ELISA method. RESULTS: Although there was a significant difference between the median of the two groups (p=0.036), the median was not above the predetermined cutoff value of 50 microg/g. CONCLUSIONS: We propose that fecal calprotectin, using the above cutoff value, has limited value in differentiating functional constipation from Hirschsprung's disease.
Age Factors
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Child
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Child, Preschool
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Constipation/*diagnosis
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Diagnosis, Differential
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Enzyme-Linked Immunosorbent Assay
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Feces/chemistry
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Female
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Hirschsprung Disease/*diagnosis/metabolism/pathology
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Humans
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Infant
;
Infant, Newborn
;
Intestinal Mucosa/pathology
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Leukocyte L1 Antigen Complex/*analysis
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Male
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Sex Factors
6.Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant.
Chung Won LEE ; Jae Ho LEE ; Eun Young JUNG ; Soon Ok CHOI ; Chun Soo KIM ; Sang Lak LEE ; Dae Kwang KIM
Journal of Korean Medical Science 2011;26(2):312-315
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypoventilation with hypercapnea and bowel obstruction. These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were discussed.
Asian Continental Ancestry Group
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Base Sequence
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DNA Mutational Analysis
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Hirschsprung Disease/diagnosis/genetics/pathology
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Homeodomain Proteins/*genetics
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Humans
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Hypoventilation/congenital/diagnosis/genetics
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Infant, Newborn
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Male
;
Molecular Sequence Data
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*Mutation
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Sleep Apnea, Central/diagnosis/genetics
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Transcription Factors/*genetics
7.Interpretation of endoscopic biopsies of alimentary tract in pediatrics: experience from a children's hospital in Australia.
Chinese Journal of Pathology 2014;43(1):48-52
Acetylcholinesterase
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analysis
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Antibodies, Monoclonal, Murine-Derived
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metabolism
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Australia
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Biopsy
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Calbindin 2
;
analysis
;
Child
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Diagnosis, Differential
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Endoscopy, Gastrointestinal
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Eosinophilic Esophagitis
;
pathology
;
Hirschsprung Disease
;
metabolism
;
pathology
;
Humans
;
Intestinal Diseases
;
pathology
;
Lymphangiectasis, Intestinal
;
immunology
;
pathology
;
Multiple Endocrine Neoplasia Type 2b
;
pathology
;
Nervous System Diseases
;
pathology
;
Quality Control