J. R. Coll. Surg. Edinb., 43, April 1998, 103-104

Aschalasia cardia in infancy and childhood: an Indian experience

R. J. THOMAS, S. SEN, N. ZACHARIAH, J. CHACKO AND K. E. MAMMEN
Department of Paediatric Surgery, Christian Medical College & Hospital, Vellore, India

Seven children with achalasia cardia, six of them infants, were seen over a 10-year period. In infantile achalasia, respiratory symptoms predominate and vomiting may easily be mistaken for gastroesophageal reflux (GER). Vomiting of uncurdled milk is characteristic of achalasia. Six children underwent esophagocardiomyotomy with good results in five. The procedure was transthoracic in two and transabdominal combined with an anterior fundoplication in the others. There was one post-operative death. Achalasia and alacrima were associated in two infants. One baby with this association also had a neurogenic bladder.

Keywords: achalasia cardia, Heller operation

In the 10-year period from 1986 to 1995, seven children (three boys and four girls) with achalasia cardia were seen at the Christian Medical College Hospital, Vellore. Six children had presented in infancy. In two of these children the diagnosis was delayed by 6 months and 4 years after the onset of symptoms.

All the children showed a failure to thrive and had experienced vomiting. On taking a careful history it was apparent that the vomitus contained uncurdled milk. Among the infants the achalasia, cough and breathlessness were the chief complaints prompting medical attention. Two babies aged 2 and 5 months had alacrima. The first had phthisis of one eye at presentation, and a history of an earlier sibling having died at 3 months of age with similar symptoms. The other baby had corneal and conjunctival erosions and a persistently distended, expressible bladder with no other obvious neurological abnormality. This baby was extensively investigated for underlying sepsis and urinary outflow obstruction. An adrenocorticotrophic hormone (ACTH) stimulation test showed normal basal cortisol levels and adrenal responsiveness. Parental consanguinity was present in three babies including the above two (consanguineous marriages are common in this part of South India). The 12 year old in this series had a history of dysphagia of 1 year duration (Table 1)

Table 1 Symptoms at presentation

Plain radiograph features included the absence of the fundic air bubble and a mediastinal air fluid level. The diagnosis was confirmed by a Barium cine-oesophagogram. An oesophagoscopy was carried out at the time of surgery to rule out a lower oesophageal stenosis. The first two children in this series underwent a left transthoracic Heller's oesophagocardiomyotomy without fundoplication. The next four children underwent an abdominal Dor-Gavriliu procedure. One baby was not brought back for surgery.

RESULTS

Vomiting ceased in five children after surgery. There was one postoperative death because of gangrenous intestinal obstruction. The baby with phthisis bulbi did not return to follow-up treatment. The children in whom the diagnosis was delayed continue to have recurrent respiratory symptoms (Table 2).

A post-operative Barium swallow was carried out in four children. The Barium was seen to pass into the stomach easily, although the dilatation of the lower esophagus persisted with absence of peristalsis. No GER was noted in any of the patients, including the two without fundoplication.

Table 2 Morbidity and mortality

* One child had idiopathic pulmonary artery dilatation

DISCUSSION

In a questionnaire survey of paediatric cases of achalasia cardia 61% were male. The survey showed a wide distribution of the age of onset of symptoms with only 18% developing symptoms during infancy. A trans-abdominal oesophagocardiomyotomy with partial fundoplication was the preferred mode of treatment with 98% resolution of symptoms. The results of transthoracic surgery were fair with or without an anti-reflux procedure.¹ The series has a 3:4 male to female ratio with a predominantly infantile onset.

Achalasia in infants indicates a central abnormality unlike the degeneration of ganglion cells shown in older subjects. Degeneration of the dorsal vagal nucleus has been seen. Central nervous system tumours, epilepsy, Guillain-Barré syndrome² and multiple endocrine neoplasma 2B³ have been associated with achalasia in adults. An association of adrenocortical insufficiency and alacrima with achalasia has been termed Allgrove syndrome. This has been shown to affect siblings⁴ and first cousins.⁵ Autonomic imbalance and peripheral neuropathy may be part of the same spectrum. Infantile and syndromic cases may provide insights into the cause of achalasia in children. In the long term follow-up of adults there has been an increased incidence of epithelioid cancer. Out of 46 individuals reviewed more than 10 years after surgery, the four who had Barrett's esophagus also had evidence of GER, strengthening the case for combining an antireflux procedure with the myotomy.⁶

CONCLUSIONS

Achalasia cardia can present in infancy. The symptoms are easily mistaken for that of the more common GER. Careful history will elicit that the vomitus characteristically contained uncurdled milk. Infants may predominantly have respiratory symptoms which may overshadow the vomiting. The children where there was considerable delay in diagnosis continue to have respiratory symptoms.

In suspected pathological GER, even when facilities for pH monitoring are not available, it is important to rule out obstructive lesions in the oesophagus and upper gastro-intestinal tract by a cine-oesophagogram and upper GI series. The possible association of a dry eye with achalasia should be considered.

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Paper accepted 11 March 1997

Correspondence: S. Sen, Department of Paediatric Surgery, Christian Medical College and Hospital, Vellore 632004, TN, India

© 1998 The Royal College of Surgeons of Edinburgh, J. R. Coll. Surg. Edinb., 43, April, 103-104