Persistent vomiting and failure to thrive as manifestation of achlasia cardia in a chid: a case report

INTRODUCTION

Achalasia is a neurodegenerative motility disorder of oesophagus characterised by progressive symptoms of dysphagia, regurgitation, failure to thrive and anorexia.¹ The disease is even more infrequent in children less than 5 years of age. The incidence of achalasia in childhood is 0.11/100000 children annually.^2,3 Overall, less than 5% of patients with symptoms present under the age of 154.

Achalasia in paediatric age group is often misdiagnosed due to a symptom profile overlapping with Gastroesophageal reflux disease (GERD), rumination syndrome and eating disorders.¹

CASE REPORT

18 month old female child, first in birth order, product of non consanguineous marriage, born via normal vaginal delivery, with no significant post natal events, with developmental milestones consistent with age presented with recurrent episodes of vomiting since 12 months of age and anorexia.

Vomitus was non bilious, consists of ingested semisolid food occurring within 1-2 hour after every feed. The child was taken to many clinicians with similar complaints and was prescribed anti reflux medication which did not resulted in any improvement. On examination child was thin built, with weight of 8kg (Z score -2; underweight) and height 68 cm (z score -3; severely stunted). Base line investigations were normal. In view of long history of non bilious repeated vomiting and underlying failure to thrive, we conducted a barium oesophagogram which revealed the typical “bird beak sign” (Figure 1) dilated oesophageal body with tapering ends confirming the diagnosis of Achalasia cardia. Pneumatic balloon dilatation was done which resulted in significant symptom control with improvement of appetite at 6 months.

DISCUSSION

Achalasia cardia is more prevalent in males and is commonly idiopathic. It has been associated with Trisomy 21, congenital hypoventilation syndrome, glucocorticoid insufficiency, eosinophilic esophagitis, familial dysautonomia, Chagas’ disease, and achalasia, alacrima, and ACTH insensitivity (AAA) syndrome4. Although the precise etiology of this abnormality is unclear, degeneration of the inhibitory myenteric plexus that innervates the lower esophageal sphincter (LES) and esophageal body has been postulated.⁵ The most common characteristic feature of infantile achalasia is vomiting of uncurdled milk, which is also seen in regurgitation occurring commonly with faulty feeding or over-feeding in infants, in infants with GERD also and hence, it is usually missed initially. Frequently occurring complications of GERD such as aspiration pneumonia, esophagitis, midline chest pain, refusal to feed, failure to gain weight and anemia are also seen in achalasia cardia.⁶

In adults high resolution esophageal manometry (HRM) is considered gold standard for diagnosing achalasia.⁷ In children, the lack of normative data makes it hard to establish validated HRM criteria and consequently, to reliably diagnose achalasia.^8,9 So barium swallow study is used to diagnose achalasia which characteristically demonstrate a dilated esophagus with “bird’s-beak” like tapering of the distal esophagus. Elevated resting LES pressure, absent or low amplitude peristalsis, or non-relaxing LES upon swallowing are diagnostic findings on esophageal manometry in children with achalasia.^2,3 However, absence of these findings does not rule out the diagnosis of achalasia since LES function in children is heterogeneous.

The various methods of treatment of achalasia involve reduction of LES pressure in order to facilitate esophageal emptying by: injection of botulinum toxin, oral administration of calcium channel blockers (Nifedipine), pneumatic dilatation, or esophageal myotomy (Heller) with or without an anti-reflux procedure. PD and HM are currently the most efficacious and most commonly used treatments and the current pediatric literature has provided insufficient evidence to conclude whether PD or HM is the superior firstline treatment for pediatric achalasia.¹⁰

The advantages of balloon dilatation include shorter length of stay, quicker recovery time, and decreased cost but has associated complications like substernal pain, prolonged epigastric pain, esophageal perforation, aspiration pneumonia, and GERD.^11,12-15 Another non-surgical treatment modality described recently in adults and older children is per-oral endoscopic myotomy (POEM) which is technically challenging procedure with 18% failure rate and high incidence of esophagitis (42%), esophageal perforation and GERD.¹⁶ Heller’s myotomy with anti-reflux procedure, is the gold standard for management of achalasia cardia. Symptomatic relief post-surgery is reported in 95% cases.¹⁶ The laparoscopic approach is superior to the open approach secondary to the well-recognized benefits including minimal pain, better cosmesis, shorter hospital stay, and faster return to normal activity for the child and parent/guardian.¹⁷

CONCLUSION

Although Achlasia is rare in infancy but should be kept in the list of differential diagnosis in a child presenting with failure to thrive and vomiting that is persistent and not responding to anti reflux medications. This condition can be diagnosed easily by thorough clinical examination and upper GI contrast study. Balloon dilatation gives symptomatic relief but there is a high degree of relapse and complications following procedure. Hellers Oesophagocardiomyotomy is the treatment of choice and has good long term outcome.

Funding: No funding sources

Conflict of interest: None declared

Ethical approval: Not required

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