Team publishes case study on rare presentation of paediatric achalasia in New England Journal of Medicine

The team from Subang Jaya Medical Centre, consisting of consultant paediatrician Dr Sanjay Woodhull, bariatric surgeon Dr Cha Kar Huei, and radiographer Sara Lim, has published a case study on paediatric achalasia in the New England Journal of Medicine. [https://pubmed.ncbi.nlm.nih.gov/34677918/] In an interview with MIMS Doctor recently, Sanjay shared the team’s experience.

Q: What inspired you to submit the case study to the New England Journal of Medicine (NEJM)?

Sanjay (SW): We hoped to create awareness of paediatric achalasia amongst fellow physicians so other children with similar presentations can be diagnosed early, and perhaps contribute to the knowledge and understanding of chronic cough in children.

The child documented in the case study presented very unusually with an isolated chronic cough for 6 months and significant sleep disturbance. Achalasia has never been reported to present in a similar fashion, without other typical symptoms such as vomiting, choking, and reflux. Being a rare disorder, it is common for diagnosis be delayed for years.

Our team was fortunate to diagnose achalasia early on—within 6 months after symptoms appeared—as the chest X-ray gave us the initial clue while the computed tomography (CT) scan confirmed our suspicion. Cough in children is very common, and achalasia is now noted as one of the differential diagnoses in those with chronic cough, which do not respond to initial therapy.

 

Q: How was each team member involved in the submission?

SW: I was the primary paediatrician who investigated the child’s condition after numerous therapies prescribed by various doctors over the previous 6 months failed to resolve the symptoms. Following a detailed history, examination and investigations, interventional radiologist Dr Alex Tang helped with reporting the chest CT scan and confirming the diagnosis of achalasia.

Cha successfully performed the surgical procedure, laparoscopic Heller myotomy with fundoplication, which permanently cured the condition. The cough resolved almost immediately, and we are happy to report that he has been cough free and sleeping very well.

Sara was instrumental in helping us with editing, resizing, and formatting the images for publication. This was a huge task as NEJM’s submission criteria for images was challenging to comply with. Sara did an excellent job in ensuring all requirements were met in a timely fashion. The images had to be captivating for an international audience, and Sara came through well for this.

I was tasked with writing the article. As the word count in brief reports is limited, deciding on how best to describe the case, and including only the salient points and learning objectives needed significant research and a few rewrites on my part.

 

Q: How much time did it take the team from submission to publication?

SW: Upon submission, it took nearly 6 months for us to get the good news that our case was successfully selected by the editors of NEJM, pending image submissions and minor text edits. It took another 2–3 months with a few back-and-forth emails with editors before the case was finally published.

The editorial team at NEJM were professional and helpful. They also included a news embargo guidance wherein authors were not allowed to speak to any reporters until a week prior to the publication date, and news about the publication cannot be published until 12 hours before the NEJM publication. I had never experienced such a requirement when it involved submissions to other international journals.

 

Q: What is your message to fellow doctors who plan to submit case studies to international journals such as NEJM?

SW: In short, they should go for it. No study is too small or insignificant to be accepted. As long as the publication is of international interest, has unique features, and significantly contributes to the current body of knowledge about a particular disease or condition, they will stand a good chance to publish their case studies. They need to emphasize on writing style and conduct thorough research. This was my third attempt to publish in NEJM, so expect many rejections. Any author needs to continue to persevere and commit to the painstaking time and effort to have their work recognized internationally.

NEJM is one of many reputable international journals. They receive many publications and if the submission is rejected, it certainly does not mean it is bad. Often, it may need rewriting, further discussions and research before attempting in another journal. So they should never give up. They can only get better.

 

Q: What is the prevalence of paediatric achalasia worldwide and in Malaysia?

SW: An epidemiological analysis of the paediatric population in the UK showed an incidence of 0.18 cases/100,000 per year. [Arch Dis Child 2011;96(2):192–194] There are no Malaysian statistics or publications on achalasia that I am aware of. It is regarded as a rare condition, hence it is often unrecognized for many years, thus underdiagnosed. Of note, the time from the first symptoms to the diagnosis is 2 years on average but may even be prolonged to 5 years. Hence, creating awareness is key. 

 

Q: What are the key symptoms of paediatric achalasia that GPs should look out for?

SW: The symptoms include dysphagia in over 90 percent of patients, vomiting or regurgitation of food (76–91 percent), retrosternal pain or heartburn (27–42 percent), poor growth, and respiratory symptoms due to chronic aspiration and tracheal compression. Our case is the first report of paediatric achalasia presenting as an isolated chronic cough with no other symptoms. Few cases have been reported in infants, and some rare familial forms have been described.

It must be remembered that the commonest causes of chronic cough in children (>4–6 weeks in duration) includes asthma, allergic rhinitis, reflux disease, and persistent bacterial bronchitis. There are a host of other causes that may be best managed by a paediatrician with an interest in respiratory medicine if the initial treatments fail to resolve symptoms.

 

Q: Where can GPs refer patients if paediatric achalasia is the suspected diagnosis?

SW: Paediatric achalasia is best managed in centres with a multidisciplinary team that includes a paediatrician with an interest in respiratory medicine, gastric surgeons with laparoscopic expertise, dietitians, and a radiologist who is passionate about paediatrics.