Hirschsprung Disease

1989 ◽  
Vol 10 (7) ◽  
pp. 207-223
Keyword(s):  
Intestinal Obstruction ◽  
Chronic Constipation ◽  
Neonatal Period ◽  
Hirschsprung Disease ◽  
Fecal Impaction ◽  
Intractable Diarrhea ◽  
Live Births ◽  
History Of ◽  
Spontaneous Evacuation ◽  
Intestinal Aganglionosis

Intestinal aganglionosis (Hirschsprung disease) has an incidence of one in 5,000 live births. It is being recognized with greater frequency during the neonatal period when it must be distinguished from other causes of intestinal obstruction. The diagnosis of Hirschsprung disease is most often considered in the infant or child with chronic constipation since birth. A history of delayed passage of meconium may be obtained, and the infant may have no spontaneous evacuation of feces without stimulation. Less commonly, intractable diarrhea secondary to enterocolitis may be the finding. Clinical features suggestive of Hirschsprung disease include increased anal sphincter tone and empty rectum despite the presence of fecal impaction.

scholarly journals Giant Fecalith Causing Near Intestinal Obstruction and Rectal Ischemia

2017 ◽  
Vol 11 (1) ◽  
pp. 59-63 ◽  
Author(s):  
Sofia Nigar ◽  
Tagore Sunkara ◽  
Andrea Culliford ◽  
Vinaya Gaduputi
Keyword(s):  
High Risk ◽  
Intestinal Obstruction ◽  
Chronic Constipation ◽  
Rare Case ◽  
Fecal Impaction ◽  
Pressure Necrosis ◽  
Paraplegic Patient

Fecal impaction if left untreated can lead to the hardening of stools and the formation of fecalith. Fecaliths rarely cause serious complications and are usually managed conservatively. We present this rare case of a giant fecalith causing near obstruction in an institutionalized paraplegic patient at high risk for chronic constipation and fecal impaction. This case was also unusual for causing ischemic pressure necrosis in the rectum, thereby highlighting the possible serious complications of fecalith.

CONGENITAL MEGACOLON

PEDIATRICS ◽  
1953 ◽  
Vol 12 (1) ◽  
pp. 1-4
Author(s):  
ORVAR SWENSON
Keyword(s):  
Surgical Treatment ◽  
Physical Examination ◽  
Intestinal Obstruction ◽  
Diagnostic Criteria ◽  
Chronic Constipation ◽  
Abdominal Distention ◽  
Congenital Megacolon ◽  
Intestinal Function ◽  
Practical Standpoint ◽  
History Of

TWO years ago I had the privilege of presenting to this Academy our concepts of the pathology, the related dysfunction of the colon, and the surgical treatment of congenital megacolon. I should now like to relate our interim clinical experience with these patients and particularly to stress diagnostic criteria of this disease. Children with constipation should, from a practical standpoint, be divided into two groups: those with chronic constipation on a habit or psychologic basis who should be treated medically; and those with congenital megacolon who should be treated surgically. The differentiation of the two groups is usually not difficult from the information gained in taking the history and performing the physical examination. The large majority of our patients with congenital megacolon have a history of constipation from birth. Often obstipation, vomiting and abdominal distention have been of such prominence during the first few days of life that a diagnosis of intestinal obstruction has been entertained and exploration occasionally performed. A considerable number of infants die of congenital megacolon in the first weeks of life. The surviving infants continue to have varying amounts of constipation with intermittent abdominal distention and require frequent enemas or some other aid in evacuation. In contrast to this the children with chronic constipation on a habit basis have histories of no symptoms until they are 2 or 3 years of age, and abdominal distention is rarely present. Furthermore, there is usually a history of parental overanxiety concerning intestinal function, and this emotional attitude toward the child's problem accounts for their tendency to exaggerate symptoms.

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

2020 ◽  
Vol 30 (5) ◽  
pp. 82-84
Author(s):  
Ilja Skalskis
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Clinical Symptoms ◽  
Hirschsprung Disease ◽  
Distal Colon ◽  
Total Colonic Aganglionosis ◽  
Sphincter Function ◽  
Anal Sphincter Function ◽  
History Of ◽  
High Index Of Suspicion

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

scholarly journals Image of the Month: Decision-Making in Surgery for Late Onset Hirschsprung Disease

2020 ◽  
Vol 08 (01) ◽  
pp. e99-e101
Author(s):  
Anisha Apte ◽  
Elise McKenna ◽  
Marc A. Levitt
Keyword(s):  
Decision Making ◽  
Chronic Constipation ◽  
Anorectal Manometry ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Poor Growth

AbstractWe present a case of a 14-year-old boy with chronic distension, poor growth, and chronic constipation. He undergoes anorectal manometry and rectal biopsy, confirming the diagnosis of Hirschsprung disease (HD). The case is presented with a key image and associated questions to prompt discussion on strategies for management and treatment of HD in late-diagnosed children.

Autopsy Study of Calretinin Immunohistochemistry in the Anorectal Canal in Young Infants and Potential Implications for Rectal Biopsy Approach in the Neonatal Period

2021 ◽  
pp. 109352662110301
Author(s):  
Heather Rytting ◽  
Zachary J Dureau ◽  
Jose Velazquez Vega ◽  
Beverly B Rogers ◽  
Hong Yin
Keyword(s):  
Neonatal Period ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Autopsy Study ◽  
Pathologic Diagnosis ◽  
Young Infants ◽  
Autopsy Specimens ◽  
Pectinate Line ◽  
Age Range

Background Absent submucosal ganglion cells in biopsies 1-3 cm above the pectinate line establishes the pathologic diagnosis of Hirschsprung Disease (HD). Calretinin stains both ganglion cells and their mucosal neurites and has gained importance in HD diagnosis. Absent calretinin positive mucosal neurites in biopsies at the appropriate level above the pectinate line is highly specific for HD. Whether this applies to lower biopsies is uncertain. To address this, we studied anorectal canal autopsy specimens from infants. Methods We performed an autopsy study of infant anorectal canal specimens to describe calretinin staining in this region. Calretinin staining was correlated with histologic and gross landmarks. Results In all 15 non-HD specimens, calretinin positive mucosal neurites were present in glandular mucosa up to the anorectal line where neurites rapidly diminished. Age range was preterm 26 weeks to 3 months. Conclusions Calretinin positive mucosal neurites are present in glandular mucosa up to the anorectal line in young infants. This is potentially important regarding neonatal HD biopsy level and diagnosis. Positive calretinin staining at the anorectal line favors normal innervation making HD unlikely. Absent calretinin positive neurites in glandular mucosa is worrisome for HD in young infants, regardless of location.

scholarly journals Endometriosis Mimicking a Cecum Mass with Complete Bowel Obstruction: An Infrequent Cause of Acute Abdomen

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Gabriel A. Molina ◽  
Darwin R. Ramos ◽  
Alberto Yu ◽  
Patricio A. Paute ◽  
Paul S. Llerena ◽  
...  
Keyword(s):  
Intestinal Obstruction ◽  
Bowel Obstruction ◽  
Preoperative Diagnosis ◽  
Malignant Tumors ◽  
Signs And Symptoms ◽  
Final Diagnosis ◽  
Intestinal Involvement ◽  
History Of ◽  
Ovarian Abscess ◽  
Fertile Women

Endometriosis is a common entity among fertile women which unfortunately manifests through variable symptomatology. Intestinal involvement in endometriosis is quite common and can simulate several diseases such as Crohn’s disease, appendicitis, tubo-ovarian abscess, or malignant tumors. Intestinal obstruction due to endometriosis is rare, and preoperative diagnosis is difficult because the signs and symptoms are nonspecific and can be easily confused. In the case of patients without a history of endometriosis, diagnosis is further complicated. We present a case of a 41-year-old female patient. She presented to the emergency room with complete bowel obstruction and a mass in the cecum. Surgery was decided, and the patient underwent full recovery. Endometriosis was the final diagnosis for the observed condition.

scholarly journals An observational claims data analysis on the risk of maternal chronic kidney disease after preterm delivery and preeclampsia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maren Goetz ◽  
Mitho Müller ◽  
Raphael Gutsfeld ◽  
Tjeerd Dijkstra ◽  
Kathrin Hassdenteufel ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Preterm Birth ◽  
Kidney Disease ◽  
Preterm Delivery ◽  
Claims Data ◽  
Maternal Risk ◽  
Live Births ◽  
Increased Risk ◽  
History Of

AbstractWomen with complications of pregnancy such as preeclampsia and preterm birth are at risk for adverse long-term outcomes, including an increased future risk of chronic kidney disease (CKD) and end-stage kidney disease (ESKD). This observational cohort study aimed to examine the risk of CKD after preterm delivery and preeclampsia in a large obstetric cohort in Germany, taking into account preexisting comorbidities, potential confounders, and the severity of CKD. Statutory claims data of the AOK Baden-Wuerttemberg were used to identify women with singleton live births between 2010 and 2017. Women with preexisting conditions including CKD, ESKD, and kidney replacement therapy (KRT) were excluded. Preterm delivery (< 37 gestational weeks) was the main exposure of interest; preeclampsia was investigated as secondary exposure. The main outcome was a newly recorded diagnosis of CKD in the claims database. Data were analyzed using Cox proportional hazard regression models. The time-dependent occurrence of CKD was analyzed for four strata, i.e., births with (i) neither an exposure of preterm delivery nor an exposure of preeclampsia, (ii) no exposure of preterm delivery but exposure of at least one preeclampsia, (iii) an exposure of at least one preterm delivery but no exposure of preeclampsia, or (iv) joint exposure of preterm delivery and preeclampsia. Risk stratification also included different CKD stages. Adjustments were made for confounding factors, such as maternal age, diabetes, obesity, and dyslipidemia. The cohort consisted of 193,152 women with 257,481 singleton live births. Mean observation time was 5.44 years. In total, there were 16,948 preterm deliveries (6.58%) and 14,448 births with at least one prior diagnosis of preeclampsia (5.61%). With a mean age of 30.51 years, 1,821 women developed any form of CKD. Compared to women with no risk exposure, women with a history of at least one preterm delivery (HR = 1.789) and women with a history of at least one preeclampsia (HR = 1.784) had an increased risk for any subsequent CKD. The highest risk for CKD was found for women with a joint exposure of preterm delivery and preeclampsia (HR = 5.227). These effects were the same in magnitude only for the outcome of mild to moderate CKD, but strongly increased for the outcome of severe CKD (HR = 11.90). Preterm delivery and preeclampsia were identified as independent risk factors for all CKD stages. A joint exposure or preterm birth and preeclampsia was associated with an excessive maternal risk burden for CKD in the first decade after pregnancy. Since consequent follow-up policies have not been defined yet, these results will help guide long-term surveillance for early detection and prevention of kidney disease, especially for women affected by both conditions.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

scholarly journals A two-year retrospective study of infants with Erb-Duchenne's palsy at a tertiary centre in Rajasthan, India

2018 ◽  
Vol 7 (2) ◽  
pp. 700
Author(s):  
Rakesh Appasaheb Hasabe ◽  
Dnyaneshwar S. Diwane ◽  
Sushant S. Chandawar
Keyword(s):  
Brachial Plexus Injury ◽  
Single Mother ◽  
Shoulder Dystocia ◽  
Fetal Macrosomia ◽  
Live Births ◽  
Tertiary Centre ◽  
Vaginal Deliveries ◽  
History Of ◽  
The Mean ◽  
Care History

Background: Brachial plexus injury (BPI) has prevalence of between 0.5 and 4.4/1000 live births. It is commonly believed to be attributed to extensive lateral traction during difficult neck delivery. This paper aims to look at one aspect of birth injuries, Erb-Duchenne palsy, its incidence and contributing factors.Methods: All infants sustaining Erb-Duchenne palsy during birth were identified at Department of OBGY, NIMS Hospital, Jaipur. The notes of the infants and mothers were reviewed. Special attention was given to the known risk factors for birth trauma such as ethnicity, parity, antenatal care, history of diabetes etc.Results: During the two-year period 2013 to 2015, there were 6 infants diagnosed with Erb-Duchenne palsy, giving an incidence of 0.79 in 1000 live births. Out of six, four were primigravidae. All pregnancies were singleton, cephalic/vertex undergoing vaginal deliveries; none required forceps or ventouse deliveries. The mean infant birthweight was 4.378 kg with a median value of 4.48 kg (range 3.51-4.78). Four infants were classified as macrosomic i.e. birthweights greater than 4 kg, four infants had birthweights of 4 kg to 5 kg; none weighed over 5 kg. Three of the deliveries were documented as difficult shoulder delivery/shoulder dystocia. Five of the infants had APGAR scores that were less than seven.Conclusions: This study suggested that Erb-Duchenne palsy is strongly associated with fetal macrosomia and shoulder dystocia. Diabetes was not significant in causing macrosomia as only single mother was found diabetic. Fetal macrosomia contributed to shoulder dystocia in the majority of cases.

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