Hirschsprung disease and hepatoblastoma: case report of a rare association

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.

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

e-CliniC ◽

10.35790/ecl.3.1.2015.6822 ◽

2015 ◽

Vol 3 (1) ◽

Author(s):

Elfianto D. Corputty ◽

Harsali F. Lampus ◽

Alwin Monoarfa

Keyword(s):

Barium Enema ◽

Ganglion Cells ◽

Hirschsprung Disease ◽

Abdominal Distension ◽

Distal Intestine ◽

Radiologic Evaluation ◽

Functional Intestinal Obstruction ◽

Duhamel Procedure ◽

Intrinsic Component ◽

Disease Present

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

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Primary Malignant Liver Neoplasm

10.32388/1006vz ◽

2020 ◽

Author(s):

Keyword(s):

Liver Neoplasm ◽

Malignant Liver

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

10.31487/j.gscr.2020.01.03 ◽

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.

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CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

10.35988/sm-hs.2020.118 ◽

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.

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Gangliocytic Paraganglioma of the Duodenum: Case Report

Tumori Journal ◽

10.1177/030089168707300419 ◽

1987 ◽

Vol 73 (4) ◽

pp. 425-429 ◽

Cited By ~ 3

Author(s):

Stefania Dante ◽

Giuseppe Viale ◽

Paolo Dalla Palma

Keyword(s):

Case Report ◽

Ganglion Cells ◽

Neuron Specific Enolase ◽

Gangliocytic Paraganglioma ◽

Spindle Cells ◽

S 100 ◽

Neurofilament 200

A case of gangliocytic paraganglioma of the second portion of the duodenal loop is presented. The tumor was polypoid and, histologically, composed of mature ganglion cells, spindle cells and epithelial-like cells. Immunocytochemical examination demonstrated the presence of neurofilament 200 K and S-100 protein only in the first two types of cells; all the cells were positive for neuron-specific enolase. The reaction for cytokeratin was negative in all neoplastic components. According to morphologic and immunocytochemical findings, we suggest a hamartomatous nature of this entity.

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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.

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Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome

Case Reports in Dentistry ◽

10.1155/2013/618468 ◽

2013 ◽

Vol 2013 ◽

pp. 1-6

Author(s):

Sera Sımsek Derelioglu ◽

Yücel Yılmaz ◽

Sultan Keles

Keyword(s):

Early Childhood ◽

Case Report ◽

General Anesthesia ◽

Early Childhood Caries ◽

Sensorineural Deafness ◽

Oral Symptoms ◽

Severe Early Childhood Caries ◽

Childhood Caries

KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC) and dental treatments done under General Anesthesia (GA) were reported.

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