scholarly journals Currarino syndrome: Presacral tumor mimicking Hirschsprung disease

2017 ◽  
Vol 50 (1) ◽  
pp. 35 ◽  
Author(s):  
Chin-Hung Wei ◽  
Yu-Wei Fu ◽  
Yao-Jen Hsu
Keyword(s):  
Hirschsprung Disease ◽  
Presacral Tumor ◽  
Currarino Syndrome

Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter

2013 ◽  
Vol 48 (1) ◽  
pp. 233-238 ◽  
Author(s):  
Koichi Ohno ◽  
Tetsuro Nakamura ◽  
Takashi Azuma ◽  
Tatsuo Nakaoka ◽  
Yuichi Takama ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Currarino Syndrome ◽  
Mother And Daughter

scholarly journals Currarino syndrome or Hirschsprung disease: how to prevent diagnostic dilemma in chronic constipation

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Md Mokarram Ali ◽  
Ram Jeewan Singh ◽  
Rashi Rashi ◽  
Amit Kumar ◽  
Amit Kumar Sinha ◽  
...  
Keyword(s):  
Chronic Constipation ◽  
Digital Rectal Examination ◽  
Hirschsprung Disease ◽  
Age Group ◽  
Pediatric Age ◽  
Diagnostic Dilemma ◽  
Common Cause ◽  
Currarino Syndrome ◽  
Rectal Examination ◽  
Pediatric Age Group

Abstract Background Currarino syndrome is a rare congenital malformation having autosomal dominant inheritance. It comprises of anorectal malformation, presacral mass, and sacral vertebral defect occurring in variable proportion. The most common presentation is chronic constipation which is usually due to compression of rectum by anterior sacral mass. If clinical examination is not properly done and digital rectal examination is excluded from the examination, it can be misdiagnosed as other common cause of constipation like Hirschsprung disease. Case presentation We are reporting one such case of one-and-half-year-old female child with chronic constipation which was initially managed as Hirschsprung disease, but later on, after a repeat clinical examination with digital rectal examination, it was evaluated on the line of Currarino syndrome. The diagnosis was confirmed by contrast-enhanced computed tomography of abdomen with 3 dimensional reconstruction. It was then managed by posterior sagittal approach with excision of mass and anorectoplasty. Conclusion A proper protocol for clinical evaluation of patient with constipation prevents diagnostic dilemma between surgical causes of constipation in pediatric age group. Digital rectal examination must be included in the protocol for evaluation of chronic constipation. In pediatric age group, clinical workup should be done with keeping in mind the rare diagnosis of Currarino syndrome along with common cause of constipation like Hirschsprung disease.

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.

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