Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

Users Online : 53472

AbstractCase ReportDiscussionConclusionReferencesDOI and Others
Article in PDF How to Cite Citation Manager Readers' Comments (0) Audio Visual Article Statistics Link to PUBMED Print this Article Send to a Friend
Advertisers Access Statistics Resources

Dr Mohan Z Mani

"Thank you very much for having published my article in record time.I would like to compliment you and your entire staff for your promptness, courtesy, and willingness to be customer friendly, which is quite unusual.I was given your reference by a colleague in pathology,and was able to directly phone your editorial office for clarifications.I would particularly like to thank the publication managers and the Assistant Editor who were following up my article. I would also like to thank you for adjusting the money I paid initially into payment for my modified article,and refunding the balance.
I wish all success to your journal and look forward to sending you any suitable similar article in future"



Dr Mohan Z Mani,
Professor & Head,
Department of Dermatolgy,
Believers Church Medical College,
Thiruvalla, Kerala
On Sep 2018




Prof. Somashekhar Nimbalkar

"Over the last few years, we have published our research regularly in Journal of Clinical and Diagnostic Research. Having published in more than 20 high impact journals over the last five years including several high impact ones and reviewing articles for even more journals across my fields of interest, we value our published work in JCDR for their high standards in publishing scientific articles. The ease of submission, the rapid reviews in under a month, the high quality of their reviewers and keen attention to the final process of proofs and publication, ensure that there are no mistakes in the final article. We have been asked clarifications on several occasions and have been happy to provide them and it exemplifies the commitment to quality of the team at JCDR."



Prof. Somashekhar Nimbalkar
Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
Ex-President - National Neonatology Forum Gujarat State Chapter
Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018




Dr. Kalyani R

"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



Dr Kalyani R
Professor and Head
Department of Pathology
Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
On Sep 2018




Dr. Saumya Navit

"As a peer-reviewed journal, the Journal of Clinical and Diagnostic Research provides an opportunity to researchers, scientists and budding professionals to explore the developments in the field of medicine and dentistry and their varied specialities, thus extending our view on biological diversities of living species in relation to medicine.
‘Knowledge is treasure of a wise man.’ The free access of this journal provides an immense scope of learning for the both the old and the young in field of medicine and dentistry as well. The multidisciplinary nature of the journal makes it a better platform to absorb all that is being researched and developed. The publication process is systematic and professional. Online submission, publication and peer reviewing makes it a user-friendly journal.
As an experienced dentist and an academician, I proudly recommend this journal to the dental fraternity as a good quality open access platform for rapid communication of their cutting-edge research progress and discovery.
I wish JCDR a great success and I hope that journal will soar higher with the passing time."



Dr Saumya Navit
Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
Lucknow
On Sep 2018




Dr. Arunava Biswas

"My sincere attachment with JCDR as an author as well as reviewer is a learning experience . Their systematic approach in publication of article in various categories is really praiseworthy.
Their prompt and timely response to review's query and the manner in which they have set the reviewing process helps in extracting the best possible scientific writings for publication.
It's a honour and pride to be a part of the JCDR team. My very best wishes to JCDR and hope it will sparkle up above the sky as a high indexed journal in near future."



Dr. Arunava Biswas
MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata




Dr. C.S. Ramesh Babu
" Journal of Clinical and Diagnostic Research (JCDR) is a multi-specialty medical and dental journal publishing high quality research articles in almost all branches of medicine. The quality of printing of figures and tables is excellent and comparable to any International journal. An added advantage is nominal publication charges and monthly issue of the journal and more chances of an article being accepted for publication. Moreover being a multi-specialty journal an article concerning a particular specialty has a wider reach of readers of other related specialties also. As an author and reviewer for several years I find this Journal most suitable and highly recommend this Journal."
Best regards,
C.S. Ramesh Babu,
Associate Professor of Anatomy,
Muzaffarnagar Medical College,
Muzaffarnagar.
On Aug 2018




Dr. Arundhathi. S
"Journal of Clinical and Diagnostic Research (JCDR) is a reputed peer reviewed journal and is constantly involved in publishing high quality research articles related to medicine. Its been a great pleasure to be associated with this esteemed journal as a reviewer and as an author for a couple of years. The editorial board consists of many dedicated and reputed experts as its members and they are doing an appreciable work in guiding budding researchers. JCDR is doing a commendable job in scientific research by promoting excellent quality research & review articles and case reports & series. The reviewers provide appropriate suggestions that improve the quality of articles. I strongly recommend my fraternity to encourage JCDR by contributing their valuable research work in this widely accepted, user friendly journal. I hope my collaboration with JCDR will continue for a long time".



Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
The journal has a monthly publication and the articles are published quite fast. In time compared to other journals. The on-line first publication is also a great advantage and facility to review one's own articles before going to print. The response to any query and permission if required, is quite fast; this is quite commendable. I have a very good experience about seeking quick permission for quoting a photograph (Fig.) from a JCDR article for my chapter authored in an E book. I never thought it would be so easy. No hassles.
Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011
Anuradha

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.


Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020

Important Notice

Case report
Year : 2022 | Month : November | Volume : 16 | Issue : 11 | Page : SD01 - SD03 Full Version

Late Diagnosed Hirschsprung Disease: A Case Report


Published: November 1, 2022 | DOI: https://doi.org/10.7860/JCDR/2022/58027.17129
Shrayash Khare, Omaira Tejada, Magda Mendez

1. Medical Doctor, Department of Pediatrics, Lincoln Medical and Mental Health Center, New York, United States of America. 2. Medical Doctor, Department of Pediatrics, Lincoln Medical and Mental Health Center, New York, United States of America. 3. Medical Doctor, Department of Pediatrics, Lincoln Medical and Mental Health Center, New York, United States of America.

Correspondence Address :
Dr. Omaira Tejada,
234 E, 149th St Bx, New York-10451, United States of America.
E-mail: tejadaomaira@gmail.com

Abstract

Hirschsprung Disease (HD) is mainly a diagnosis of the neonatal period. It is mostly suspected within the first few days of life, the classical telltale sign is an infant not passing meconium. Paediatricians continue to encounter cases of late diagnosed HD. A late diagnosis of Hirschsprung poses an unnecessary burden and suffering on the child and family and increases the likelihood of long-term health complications for the patient. Hirschsprung-Associated Enterocolitis (HAEC) is one of the acute serious complications of late diagnosed HD. It is the leading cause of morbidity and is responsible for half of the deaths associated with HD. Hence, HAEC should be kept in mind as a probable diagnosis by evaluating physicians particularly when making assessments for a child with possible necrotising enterocolitis or distal bowel obstruction with loose stools. The present case report highlights the importance of keeping HD on the differential diagnosis of an ill-appearing child presenting with growth faltering below growth curve for age and in settings of chronic constipation. The patient discussed in the present case report was a 14-month-old female infant, evolved from an admission due to poor weight gain and fever to concerns for paediatric surgery evaluation. Her symptoms progressed to include not just clinical changes, but also physical examination reflected worsening abdominal exams. Patient underwent biopsy which showed aganglionic bowel segment which resulted in surgical resection. Patient had complete recovery without major complications at two weeks postsurgery.

Keywords

Abdominal distention, Constipation, Poor weight gain

Case Report

A 14-month-old, early term (38 4/7 weeks) appropriate for gestational age female infant presented to the Emergency Department (ED) with complaints of fever and constipation. Mother reported intermittent fever for two days reaching a temperature of 105° F at home, measured rectally with poor response to acetaminophen. As per patient’s grandmother, the patient had not passed stools in more than a week and the stomach felt “rock hard” associated with decreased oral intake for two days.

Prior to the fever, the patient had 3-4 watery, liquid, yellow stools without any blood for three days. The mother reported decreased activity level the day before the Emergency Department visit and decreased dietary intake. Family decided to bring the patient to hospital after three episodes of non bloody, non bilious emesis. The number of wet diapers remained the same as her normal pattern.

Absence of cough, nasal congestion, vomiting, rash, new foods was reported. Any sick contacts or recent travel were denied. Mother of the infant stated that the patient had previously been taking 7.5 mg of polyethylene glycol daily since the age of six months due to chronic constipation but had recently stopped. Upon arrival to the hospital, patient’s vitals were- weight 7 kg (0.43% percentile,: World Health Organisation Child Growth Standards for Girls 0-2 years, growth chart) (1), temperature 103.3°F (measured rectally), heart rate 148 beats/min, respiratory rate 38 breaths/min.

The patient was tired looking and crying, without signs of distress. On examination, she had dry mucous membranes, abdomen extremely distended, firm and tender to palpation. Bowel sounds were present and no organomegaly was appreciated, bowel loops were palpable. The patient was found to have an empty rectal vault on a rectal exam with no forceful stool expulsion. Abdominal x-ray showed significant stool in the distal colon and rectum with prominent gaseous distention of the remaining colon (Table/Fig 1).

Patient received a tap water enema and was admitted to the inpatient ward due to concerns regarding poor weight gain, fever to rule out serious bacterial infection and abdominal distension. At this point, there was a broad spectrum of differential diagnoses such as rule out intussusception, small bowel obstruction, toxic megacolon, fecal impaction with superimposed viral gastroenteritis, including possibility of enterocolitis in suspicion of Hirschsprung Disease (HD).

Over the course of patient’s first day of admission, fever was controlled with alternating oral acetaminophen 15 mg/kg and ibuprofen 10 mg/kg every six hours as needed. Paediatric gastroenterology was consulted and recommended to continue with oral polyethylene glycol 7.5 mg daily and to add oral lactulose 15 mL twice per day. The patient did not tolerate polyethylene glycol or lactulose orally due to an episode of non bloody, non bilious vomiting and placed on Nil Per Os (NPO). Tap water enema was done twice, producing some pasty stools. Serial abdominal exams were done pertinent for absent bowel sounds and tenderness to palpation. There was an increase in her abdominal girth from 49 cm to 51.5 cm in less than 24 hours since admission. The findings on abdominal exam and increasing abdominal distention prompted paediatric surgery consultation. It was, therefore, recommended that the patient should be started on intravenous (i.v.) piperacillin-tazobactam 100 mg/kg every eight hours and i.v. metronidazole 10 mg/kg every eight hours.

Rectal irrigation with normal saline via rectum through 16-French Foley catheter was started promptly. The patient underwent a contrast enema study, which showed a reverse rectosigmoid ratio, suggesting HD (Table/Fig 2). Patient continued NPO and sustained multiple rectal irrigations, which significantly improved her abdominal distention.

The patient underwent a total thickness rectal biopsy in which no ganglion cells were identified confirming the diagnosis of HD. The pathology report for the rectosigmoid resection showed complete absence of distal ganglion cells. Shortly after histology and pathology results were obtained, she underwent trans-anal rectal pull-through (Soave’s procedure) which was first designed to treat HD by Dr. Soave, an Italian Surgeon (2). Patient had complete resection of about 15 cm long segment of bowel above dentate line on rectum. This length was based on frozen section sent for pathology from the rectosigmoid junction and colon while in the operating room. The colon was then approximated and anastomosed to dentate line on rectum. Digital rectal examination was done to assess for good anal tone and confirm patent anastomosis.

The patient was continued on intravenous ceftriaxone 50 mg/kg every 24 hours and metronidazole 7.5 mg/kg every eight hours after surgery. Careful instructions were given for no anal examination, no touching or wiping near anal area. On postoperative day 2, antibiotics regimen was revised, ceftriaxone was discontinued, and the patient was advanced to regular diet after having multiple bowel movements. She was discharged on postoperative day 4 in good condition, tolerating regular diet, regular bowel movements and pain well-controlled. Patient was sent home to complete 14 days of oral metronidazole 13 mg/kg every 8 hours and oral acetaminophen 15 mg/kg as needed.

On two weeks follow-up, after the surgery, she developed candida diaper rash. Patient was prescribed nystatin 100000 unit/gm ointment twice daily to diaper area for 10 days. She reported multiple soft and brown bowel movements. Her appetite was back to baseline.

Discussion

Hirschsprung Disease (HD) is mainly a diagnosis of the neonatal period. It is mostly suspected within the first few days of life, classically by the telltale signs of an infant not passing meconium in the first two days of life. In 80% of cases, HD is diagnosed within the first year of life, with 50-60% of patients diagnosed within the first month of life (3). This disorder is uncommon in adolescence and adulthood. When present in this age group, it shows up as a short or an Ultrashort-Segment Disease (USHD) of aganglionic segment of bowel (4).

Though accounting for less than 10% of the cases, paediatricians encounter issues of late diagnosed HD. The first reason for the delayed presentation of HD is inadequate access to specialised centres and delayed referrals. The second reason is that only 90% of aganglionosis produces clinical signs and symptoms of HD (5). Thus, leading to missed diagnosis and later presentation as faltering growth due to protein-losing enteropathy. Mild HD cases can be underdiagnosed, either due to lack of symptoms or because symptoms are mistaken with other conditions. A certain degree of constipation of fluctuating intensity is not uncommon. In such cases, fecaloma characterising clinical progression, often associated with nutrition and growth changes, is commonly misinterpreted as functional constipation (6). As a clinician, few differences could help differentiate the latter from HD. According to the book, Nelson’s textbook of paediatrics (7), HD disease onset is at birth whereas functional constipation usual onset is after two years of age. Another differing point between the two is that in HD there is no sphincter relaxation which was not part of the investigations done for this case. Another important difference is that when barium enema is done, functional constipation has no transition zone, but in HD a zone where there is a visible change in the diameter or caliber of the loop of bowel between rectum and colon can be seen as also noticed in the present case. The level of colonic caliber change in a contrast enema can help to predict the degree of aganglionosis and therefore the length of the colonic segment to be resected and whether laparoscopic assistance during surgery is necessary or an open colectomy is indicated (8).

Part of the misdiagnosis could also be attributed to HD’s varied presentation, classified according to the extent of the aganglionic area as a short segment, long segment, total colonic, and USHD. When comparing HD and USHD, the latter has ganglion cells on rectal biopsy and no transition zone on barium enema. Furthermore, neither USHD or classical HD have reflex internal sphincter relaxation on rectal manometry (9).

Hirschsprung-Associated Enterocolitis (HAEC) was first identified in the later part of the 19th century by Härald Hirschsprung (10). HAEC constitutes intestinal inflammation defined by the following clinical features: fever, abdominal distention, diarrhoea, and sepsis which were all present in the case in question (11). Hirschsprung highlighted important histological findings: crypt abscesses, mucosal ulceration, and transmural necrosis which aid in the diagnosis of HAEC (12). HAEC is the most feared complications associated with Hirschsprung disease as it is responsible for half of deaths in patients with this condition (13).

Some patients reach adulthood without a diagnosis for this disease. Typically, patients go to the doctor with a history of constipation requiring frequent laxative or enema use (14). The current frequency of the disease in adults is unknown, especially since HD is an overlooked and misdiagnosed illness in this age group. Other factors contributing to a delayed HD presentation include illiteracy, parental ignorance, and poverty (15). The hallmark of late-diagnosed HD is chronic constipation without encopresis as far as the newborn period (16). On physical examination, patients with late-diagnosed HD often have abdominal distention and palpation of large fecaloma.

Management of HD, early or late diagnosed is mainly surgical. In the present case, the patient underwent transanal Soave pull-through which has both advantages and disadvantages. The positive factors in this case will be short operation time, minimal bleeding and decreased morbidity in comparison to transabdominal pull-through surgery (17). Even postsurgical repair, patient can still develop HAEC with an incidence of up to 40% (18).

Also, in the case of late-diagnosed HD malnutrition and anemia are common therefore nutrition needs to be addressed. Patients with late-diagnosed HD are predisposed to severe complications such as intraoperative bleeding, frequent bowel movement, temporary fecal incontinence with the negative effect on mental health, inadequate anastomosis healing, soiling and lastly mortality due to enterocolitis (15). Constipation and incontinence are the most important markers to assess the outcome of the patients. In the present case, at two weeks follow-up postoperative procedure pullthrough Soave did not have constipation and had a normal number of bowel movements per day, which were described as soft without any discomfort.

Conclusion

Although commonly diagnosed in patients younger than 12 months, HD should be a differential diagnosis when a child presents with poor weight gain, fever and chronic constipation. The late diagnosis of Hirschsprung poses unnecessary burden and suffering on the child and family and increases the likelihood of long-term health complications on the patient. The case presented showed distended abdomen, radiographic images with concerns for bowel obstruction increased the suspicion for HD. The contrast enema showing the transition zone is the pathognomonic clue to achieve the diagnosis of late onset of HD.

References

1.
Birth to 24 months: Girls Length-for-age and Weight-for-age percentiles. [Internet]. Center for Disease Control and Prevention.CDC.gov; Nov. 2009. https://www.cdc. gov/growthcharts/data/who/GrChrt_Girls_24LW_9210.pdf.
2.
Lefèvre JH, Parc Y. Soave procedure. J Visc Surg. 2011;148(4):e262-66. Doi: 10.1016/j.jviscsurg.2011.07.006. PMID: 21885364. [crossref] [PubMed]
3.
Bigélli RH, Fernandes MI, Galvão LC, Sawamura R. Retrospective study of 53 children with Hirschsprung’s disease: Clinical and laboratorial findings. Medicina (Ribeirão Preto). 2002;35(1):78-84. Doi: https://doi.org/10.11606/issn.2176-7262. v35i1p78-84. [crossref]
4.
Bouziane M, Haddadi Z, Jabi R, Ouryemchi M, Soussan H. Hirschsprung’s disease in adults revealed by an occlusive syndrome. Cureus. 2021;13(10):e18484. Doi: 10.7759/cureus.18484 [crossref]
5.
Martucciello G. Hirschsprung’s disease, one of the most difficult diagnoses in pediatric surgery: A review of the problems from clinical practice to the bench. Eur J Pediatr Surg. 2008;18(3):140-49. Doi: 10.1055/s-2008-1038625. PMID: 18493886. [crossref] [PubMed]
6.
Marques dos Santos C, Ribeiro Falcao G, Rodrigues Martins M. Late diagnosis of Hirschsprung’s disease. Journal of Coloproctology. 2015;35(3):178-81. Doi: 10.1016/j.jcol.2015.02.009. [crossref]
7.
Blum N, Kliegman R, Shah S, St. Geme III J, Tasker R, Wilson K, et al. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, USA: Elsevier; 2020.
8.
Frongia G, Günther P, Kessler M, Schenk J, Strube K, Mehrabi A, et al. Contrast enema for hirschsprung disease investigation: Diagnostic accuracy and validity for subsequent diagnostic and surgical planning. Eur J Pediatr Surg. 2016;26(02):207- 14. Doi: 10.1055/s-0035-1546755. [crossref] [PubMed]
9.
Neilson R, Yazbeck S. Ultrashort Hirschsprung’s disease: Myth or reality. J Pediatr Surg. 1990;25(11):1135-38. Doi: 10.1016/0022-3468(90)90748-x. PMID: 2273426. [crossref] [PubMed]
10.
Frykman P, Short S. Hirschsprung-associated enterocolitis: Prevention and therapy. Semin Pediatr Surg. 2012;21(4):328-35. Doi: 10.1053/j.sempedsurg.2012.07.007. PMID: 22985838; PMCID: PMC3462485. [crossref] [PubMed]
11.
Caty MG, Langer JC, Osman F, Pastor AC, Teitelbaum DH. Development of a standardized definition for Hirschsprung’s-associated enterocolitis: A Delphi analysis. J Pediatr Surg. 2009;44(1):251-56. [crossref] [PubMed]
12.
Murphy F, Puri P. New insights into the pathogenesis of Hirschsprung’s associated enterocolitis. Pediatr Surg Int. 2005;21(10):773-79. [crossref] [PubMed]
13.
Pini Prato A, Rossi V, Avanzini S, Mattioli G, Disma N, Jasonni V. Hirschsprung’s disease: What about mortality? Pediatr Surg Int. 2011;27(5):473-78. [crossref] [PubMed]
14.
Qiu JF, Shi YJ, Hu L, Fang L, Wang HF, Zhang MC. Adult Hirschsprung’s disease: Report of four cases. Int J Clin Exp Pathol. 2013;6(8):1624-30. PMID: 23923081; PMCID: PMC3726979.
15.
Bandré E, Kaboré RA, Ouedraogo I, Soré O, Tapsoba T, Bambara C, et al. Hirschsprung’s disease: Management problem in a developing country. Afr J Paediatr Surg. 2010;7(3):166-68. Doi: 10.4103/0189-6725.70418. PMID: 20859022. [crossref] [PubMed]
16.
Singh SJ, Croaker GD, Manglick P, Wong CL, Athanasakos H, Elliott E, et al. Hirschsprung’s disease: The Australian paediatric surveillance unit’s experience. Pediatr Surg Int. 2003;19(4):247-50. [crossref] [PubMed]
17.
Li AW, Zhang WT, Li FH, Cui XH, Duan XS. A new modification of transanal Soave pull-through procedure for Hirschsprung’s disease. Chin Med J (Engl). 2006;119(1):37-42. PMID: 16454980. [crossref] [PubMed]
18.
Mahon M, Khlevner J. Hirschprung disease. Pediatr Rev. 2021;42(12):714-16. https://doi.org/10.1542/pir.2020-004912. [crossref] [PubMed]

DOI and Others

DOI: 10.7860/JCDR/2022/58027.17129

Date of Submission: May 27, 2022
Date of Peer Review: Jul 20, 2022
Date of Acceptance: Sep 12, 2022
Date of Publishing: Nov 01, 2022

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Jul 08, 2022
• Manual Googling: Sep 06, 2022
• iThenticate Software: Sep 10, 2022 (15%)

ETYMOLOGY: Author Origin

JCDR is now Monthly and more widely Indexed .
  • Emerging Sources Citation Index (Web of Science, thomsonreuters)
  • Index Copernicus ICV 2017: 134.54
  • Academic Search Complete Database
  • Directory of Open Access Journals (DOAJ)
  • Embase
  • EBSCOhost
  • Google Scholar
  • HINARI Access to Research in Health Programme
  • Indian Science Abstracts (ISA)
  • Journal seek Database
  • Google
  • Popline (reproductive health literature)
  • www.omnimedicalsearch.com