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

Abstract: 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

Download Full-text

Hirschsprung disease and hepatoblastoma: case report of a rare association

Sao Paulo Medical Journal ◽

10.1590/1516-3180.2014.9200311 ◽

2015 ◽

Vol 134 (2) ◽

pp. 171-175 ◽

Cited By ~ 1

Author(s):

Raquel Borges Pinto ◽

Ana Regina Lima Ramos ◽

Ariane Nadia Backes ◽

Beatriz John dos Santos ◽

Valentina Oliveira Provenzi ◽

...

Keyword(s):

Case Report ◽

Ganglion Cells ◽

Liver Volume ◽

Sensorineural Deafness ◽

Hirschsprung Disease ◽

Liver Neoplasm ◽

Intestinal Atresia ◽

Distal Intestine ◽

Malignant Liver ◽

Bilateral Congenital Cataract

ABSTRACT CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000. CASE REPORT: A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin). CONCLUSION: It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.

Download Full-text

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

Pediatric Reports ◽

10.4081/pr.2018.7500 ◽

2018 ◽

Vol 10 (2) ◽

Author(s):

Shun Watanabe ◽

Shotaro Matsudera ◽

Takeshi Yamaguchi ◽

Yukiko Tani ◽

Kei Ogino ◽

...

Keyword(s):

Sigmoid Colon ◽

Ganglion Cells ◽

Circular Muscle ◽

Hirschsprung Disease ◽

Waardenburg Syndrome ◽

Myenteric Ganglion ◽

Distal Side ◽

Embryonic Life ◽

Colon And Rectum ◽

Functional Intestinal Obstruction

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.

Download Full-text

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

Pediatric and Developmental Pathology ◽

10.1177/10935266211030172 ◽

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.

Download Full-text

Idiopathic megacolon and megarectum in an adult treated with laparoscopic modified Duhamel procedure

BMJ Case Reports ◽

10.1136/bcr-2020-240209 ◽

2021 ◽

Vol 14 (6) ◽

pp. e240209

Author(s):

Maureen Elvira Padernal Villanueva ◽

Marc Paul Jose Lopez ◽

Mark Augustine S Onglao

Keyword(s):

Emergency Department ◽

Chronic Constipation ◽

Ganglion Cells ◽

Rectal Biopsy ◽

Full Thickness ◽

Postoperative Course ◽

Idiopathic Megacolon ◽

Duhamel Procedure ◽

Idiopathic Megarectum ◽

Sigmoid Loop Colostomy

Idiopathic megacolon (IMC) and idiopathic megarectum (IMR) describe an abnormality of the colon or rectum, characterised by a permanent dilatation of the bowel diameter in the absence of an identifiable cause. We present a 23-year-old woman with chronic constipation and excessive straining during defecation who presented at the emergency department in partial gut obstruction with a palpable fecaloma. Manual faecal disimpaction and a sigmoid loop colostomy was initially done. A full thickness rectal biopsy was positive for ganglion cells. Further workup led to the diagnosis of chronic IMC and IMR. The patient underwent laparoscopic modified Duhamel procedure, with an uneventful postoperative course.

Download Full-text

Low incidence of surgical pathology in infants with bilious vomiting

10.21203/rs.3.rs-908820/v1 ◽

2021 ◽

Author(s):

David Andrew Cummins ◽

Carl Kuschel

Keyword(s):

Imaging Study ◽

Hirschsprung Disease ◽

Abdominal Distension ◽

Surgical Pathology ◽

Term Infants ◽

Term Neonates ◽

Bilious Vomiting ◽

Highly Sensitive ◽

Abdominal Radiographs ◽

Low Incidence

Abstract Background: Bilious vomiting in the neonate is an important presenting sign of intestinal obstruction. We conducted a review of the presentation and management of term neonates admitted with bilious vomiting (BV) to determine the incidence of a surgical pathology in our population.  Design: Retrospective cohort study using a prospectively maintained database.  Participants: All term infants admitted to NICU with BV at the Royal Women’s Hospital Melbourne during a 5-calendar year period.  Results: All 153 babies had at least one imaging study. 128 (83.7%) had plain abdominal radiographs. 127 (83%) underwent upper gastrointestinal contrast scan (UGI) and 103 (67.3%) had both. 6 (3.9%) UGI studies were abnormal, with 3 babies (1.9%) subsequently having surgical pathology (2 volvulus, 1 Hirschsprung disease). Only 6 (3.9%) babies in our cohort had a surgical pathology identified (4 Hirschsprung disease, 2 malrotation). Babies with surgical pathology were more likely to present later (median 40 hours versus 23 hours). Abdominal distension was highly sensitive for surgical pathology.  Conclusion: The incidence of surgical pathology in this cohort was low compared to other studies. It is more likely in infants presenting with BV after 24 hours. 

Download Full-text

HIRSCHSPRUNG’S DISEASE

The Professional Medical Journal ◽

10.29309/tpmj/2010.17.02.2349 ◽

2010 ◽

Vol 17 (02) ◽

pp. 223-231

Author(s):

MUHAMMAD ZAFAR IQBAL ◽

Hammad Azam ◽

MUHAMMAD JAHANGIR ◽

Muhammad Tahir ◽

MUHAMMAD ANWAR ◽

...

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Case Series ◽

Abdominal Distension ◽

Functional Results ◽

International Studies ◽

Stool Incontinence ◽

Case Series Study ◽

Duhamel Procedure ◽

One Year

Introduction: Hirschsprung’s Disease is one of the most common congenital anomalies that Pediatric Surgeons manage. In spite of the various modifications of pull through procedures available, the long term functional results are less than ideal. However, Modified Duhamel Procedure is one which has relatively good functional results and that is the reason we have selected this procedure for Hirschsprung’s disease in Sheikh Zayed Hospital, Rahim Yar Khan. Objectives: To evaluate the outcome of patients after Modified Duhamel Procedure for Hirschsprung’s Disease. Design: This is case series study. Settings: Department of Pediatric Surgery Sheikh Zayed Medical College/ Hospital Rahim Yar Khan. Period: Seventeen cases were studied over a period of two year i.e. from November 2006 to December, 2008. Material and Method: Seventeen (17) cases from both sexes were operated for Hirschsprung’s Disease over a period of one year and Modified Duhamel Procedure was adopted for all these cases. All patients were diagnosed cases of rectosigmoidal aganglionosis and follow up was done over a period of one year according to a comprehensive Proforma. Four parameters like normal stool evacuation, abdominal distension, soiling and stool incontinence were followed and then the results were compared with other national and international studies. Results: Fever 19.4% (n=04), wound infection 19.4% (n=04), vomiting 9.52% (n=02), abdominal distension 4.76% (n=01), and bleeding per rectum 4.76% (n=01), were the immediate post operative complications. Fourteen patients (82.35%), used to pass stool once daily. Abdominal distension was observed occasionally in six patients (28.57%). Soiling was seen in five patients (29.41%). Out of Seventeen, stool incontinence was seen in only three patients (17.64%). Conclusion: Modified Duhamel Procedure with the help of linear cutter stapler device is quite safe, easy and less time consuming. Infact Modified Duhamel is a procedure of choice for Hirschsprung’s Disease.

Download Full-text

Total Colonic Aganglionosis: Case Report, Practical Diagnostic Approach and Pitfalls

Archives of Pathology & Laboratory Medicine ◽

10.5858/2010-0279-cr.1 ◽

2010 ◽

Vol 134 (10) ◽

pp. 1467-1473 ◽

Cited By ~ 3

Author(s):

Raja Rabah

Keyword(s):

Transition Zone ◽

Ganglion Cells ◽

Hirschsprung Disease ◽

Rectal Biopsy ◽

Nerve Fibers ◽

Submucosal Plexus ◽

Total Colonic Aganglionosis ◽

Biopsy Specimens ◽

Suction Rectal Biopsy ◽

Acetylcholinesterase Staining

Abstract Hirschsprung disease remains a challenging diagnosis for many pathologists. The disease is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetylcholinesterase-positive nerve fibers. Hypertrophic nerve fibers are present in most but not all patients. Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung disease with clinical, histologic, and genetic differences and is even more difficult to diagnose and manage. This case illustrates some of the difficulties frequently faced by the pathologists dealing with total colonic aganglionosis. Suction rectal biopsy specimens often lack significant nerve hypertrophy and positive acetylcholinesterase staining, which aid in the diagnosis. Pathologists have to depend mainly on the lack of ganglion cells in adequate submucosa to establish the diagnosis. Transition zone is often long in total colonic aganglionosis and interpretation of frozen sections can be difficult. The presence of several uniformly distributed clusters of mature ganglion cells and lack of nerve hypertrophy are required to avoid connections at the transition zone.

Download Full-text