Hirschsprung’s Disease: Diagnosis and Management

Hirschsprung’s disease (HD) is a rare genetic congenital defect of intestine causing failure of migration of parasympathetic ganglionic cells in some definite part of intestine, resulting in functional intestinal obstruction. It commonly involves rectosigmoid region of colon but other parts of colon or total colon, even small intestine may be affected. Incidence is 1/5000 live births. It is one of the common pediatric surgical problems and 2nd most organic cause of constipation. Symptoms may be evident from 1st day of life. About 90% infants with Hirschprung’s disease fail to pass meconium in 1st 24 hours of life. About 80% HD cases are diagnosed in early few months of life and present with abdominal distention, constipation, poor feeding, vomiting etc. HD enterocolitis is a devastating condition related to mortality. HD may be associated with some congenital anomalies and syndrome. High index of suspicion is the main key to diagnosis. Radiological investigation supports the diagnosis and rectal biopsy for histopathology is confirmatory. Although it is a surgical problem, physician can play a key role in early diagnosis and thus help to prevent HD enterocolitis-related mortality and restore near-normal life. J Enam Med Col 2020; 10(2): 104-113

Management strategies of functional intestinal obstruction of prematurity

Functional intestinal obstruction of prematurity (FIOP) is characterised by a partial or complete failure of meconium evacuation due to hypomotility of the immature bowel and this presents with features of intestinal obstruction typically within the first 2 weeks of life. It contributes significantly to the morbidity and mortality of extremely and very low birth weight preterm infants. This disorder has been described using many terminologies and there is controversy amidst clinicians as to the optimal approach to its management. This review summarises the characteristic clinical and radiologic findings to aid timely diagnosis and initiation of prompt treatment. Available evidence on different treatment options and their limitations is reviewed and practical stepwise management is described. In most cases, FIOP can be successfully managed conservatively with proactive management and monitoring. Overall outcomes are favourable and normal long-term gastrointestinal function is commonly experienced. Evidence for investigations to exclude cystic fibrosis and Hirschsprung’s disease in preterm infants with FIOP is evaluated and a link with focal intestinal perforation is highlighted.

Case Report: Eosinophilic Myenteric Ganglionitis in a Child With Hirschsprung's Disease: A Challenge in Pseudo-Obstruction

Introduction: The presentation of eosinophilic myenteric ganglionitis (EMG) can be similar to that of Hirschsprung's disease (HD). In a limited number of cases of pediatric patients, the diagnosis of both EMG and HD are reported. A case of pseudo-obstruction in EMG occurring in a child with HD diagnosis is discussed with literature review.Case Presentation: A boy aged 2 years and 6 months presented with intractable constipation and abdominal distension. Histological HD diagnosis was carried out and transanal Soave pullthrough was performed. At the age of 3 years and 2 months, an infectious enterocolitis occurred. One month later, he presented with constipation, marked abdominal distension and melena. Full thickness colonic biopsies revealed eosinophilic myenteric ganglionitis. Specific IgE tests were positive for several foods. Dietary exclusion was adopted with resolution of clinical symptoms and histologic remission.Conclusion: EMD may occur in patients with HD. At the onset, EMD may be associated with functional intestinal obstruction. The use of an elimination diet proved effective for the relief of symptoms. Long term follow-up is mandatory to define the timing of the reintroduction of foods.

THE EFFECT OF A MEDICAL DECOMPRESSION PROTOCOL ON THE USE OF ANTIEMETICS, NASOGASTRIC TUBE USAGE AND DIET ADVANCE IN LATE STAGE CANCER PATIENTS WITH FUNCTIONAL INTESTINAL OBSTRUCTION

Background: At the end of life, many cancer patients suffer from a syndrome that simulates classic small bowel obstruction. The traditional approach to intestinal obstruction is relief of pressure in the gastrointestinal tract using mechanical methods. The Medical Decompression(MD) protocol is a non-invasive pharmacologic approach for this problem that is easy and economical. Methods: The study was done in a academic institution of central India from April 2019 to October 2019. It included 21 cases based on the inclusion and exclusion criteria. Data regarding demographics, cancer diagnosis, existing drug history and diet history was collected and the sample was randomly divided into two groups: one received medical decompression and the other didn’t. The data was compared using t-tests on the outcome variable days to advanced diet. Results: Out of 21 cases, 43% were males whereas 57% were females with a mean age of 66 years. About 30% of these had a pre-inserted NG tube. Around 19% of these were already on a clear liquid diet. Most men had colon cancer whereas most females had ovarian cancer. A mean of 1.1 doses and 3.8 days was taken to advance the diet. There was a statistically significant difference between the MD and the non MD group. Conclusions: A pharmacologic method such as MD is strongly useful as first line treatments for the functional intestinal obstruction syndrome and indeed be considered as adjuncts to allow the removal of invasive mechanical interventions in the end of life patient.

Prenatal diagnostic and management of megacystis microcolon intestinal hypoperistalsis syndrome: A report on a rare case in Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. Abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydro nephrosis. Some previous reports have revealed that the typical antenatal sonographic findings are as follows: a greatly distended bladder, bilateral hydro nephrosis, and a normal amount of amniotic fluid; however, the antenatal diagnosis of this syndrome is occasionally difficult.

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. We report a case of WS which did not have myenteric ganglion cells in the sigmoid colon and rectum. Whether to diagnosis this case as type 1 or 4 WS is controversial. Moreover, this is the third report which has peristalsis failure caused by abnormal myenteric plexus. In all three cases, the eosinophils had aggregated in the myenteric layer of the transition zone. During embryonic life, enteric ganglion cells migrate to the myenteric layer from the proximal to the distal side sequentially and, subsequently, to the submucosal layer through the circular muscle. Therefore, we hypothesize that myenteric ganglion cells that had already migrated were eliminated by an eosinophil-mediated mechanism in these three cases. We believe this report may be helpful to elucidate the pathogenesis of some types of HD.

GAMBARAN PASIEN HIRSCHSPRUNG DI RSUP PROF. DR. R. D. KANDOU MANADO PERIODE JANUARI 2010 – SEPTEMBER 2014

Hirschsprung disease is a developmental disorder of the intrinsic component of the enteric nervous system that is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine. Because these cells are responsible for normal peristalsis, patients with Hirschsprung disease present with functional intestinal obstruction at the level of aganglionosis. This researched purpose to know the description of Hirschsprung ddisease patient in RSUP Prof. Dr. R. D. Kandou Manado for period January 2010 to September 2014. The research method used was a descriptive retrospective. This study found 45 cases of Hirschsprung Disease. Males are more than females with ratio 1,3:1 with the age group are from 2 day to 45 years old. Most Hirscshprung disease patients came with the main complaints: abdominal distension, difficult to defecate and not defecation from birth, with the concomitant complaints, that is vomiting and abdominal pain. The most supporting examination of Hirscshprung disease is radiologic evaluation, that is plain abdominal x-ray and barium enema, and patologi anatomi evaluation, that is mucosal biopsy and suction biopsy. The most used surgery technique of Hirscsprung disease patients is colostomy and duhamel procedure. The most frequent complication of Hirschsprung disease is sepsis. The most outcome is improved clinical condition.Keywords: Hirschsprung disease, description of patientAbstrak: Penyakit Hirschsprung merupakan kelainan perkembangan komponen intrinsik pada sistem saraf enterik yang ditandai oleh absennya sel-sel ganglion pada pleksus myenterik dan submukosa di intestinal distal. Karena sel-sel ini bertanggung jawab untuk peristaltik normal, pasien-pasien penyakit Hirschprung akan mengalami obstruksi intestinal fungsional pada level aganglion. Tujuan Penelitian ini untuk mengetahui gambaran pasien Hirschsprung di RSUP Prof. Dr. R. D. Kandou Manado periode Januari 2010 sampai September 2014. Metode penelitian ini bersifat deskriptif retrospektif. Pada penelitian ini ditemukan 45 kasus penyakit Hirschsprung. Laki-laki lebih banyak dari perempuan dengan rasio 1,3:1 dengan umur mulai dari 2 hari sampai 45 tahun. Secara umum, pasien Hirschsprung datang dengan keluhan utama yaitu perut kembung, tidak BAB sejak lahir dan sulit BAB, disertai keluhan penyerta yaitu muntah atau nyeri perut. Secara umum pemeriksaan penunjang yang digunakan adalah pemeriksaan radiologi yaitu foto polos abdomen dan barium enema, dan pemeriksaan patologi anatomi yaitu biopsi eksisi dan biopsi hisap. Sebagian besar pasien Hirschsprung dilakukan tindakan bedah kolostomi dan duhamel. Komplikasi pada umumnya adalah sepsis. Hasil akhir penatalaksanaan pada umumnya cukup baikKata kunci: penyakit hirschsprung, gambaran pasien