Sandifer syndrome in a 30-day-old infant: A case report

Case report

A 30-day-old exclusively breastfed male infant with normal perinatal history presented with abnormal movements in the form of extension of the head, arching of the back, staring, associated with irritability and excessive crying since 2 weeks of age. He had 10–12 episodes per day, each episode lasting for 20–30 s. These movements were observed during or just after feeding and were associated with vomiting. He had adequate weight gain for his age. His physical and neurological examination was normal with no deficit. A provisional diagnosis of infantile spasms was considered.

Routine laboratory investigations including complete blood count and metabolic workup (serum calcium – 2.54mmol/l, random blood glucose – 4.4mmol/l) were within normal limits. An electroencephalogram (EEG) was normal.

In view of the temporal association of feeding and vomiting, a diagnosis of Sandifer syndrome was considered. The parents could not afford a 24-hour pH monitoring and barium swallow. Conservative management with feeding and posture modifications, proton pump inhibitors (esomeprazole) and prokinetics (domperidone) was commenced. Within 4 days, the frequency of episodes diminished. Complete resolution was seen within 3 weeks of treatment. At 1-month follow-up, there was adequate weight gain with no further recurrence of episodes.

Discussion

Sandifer syndrome is an extra-oesophageal manifestation of gastro-oesophageal reflux disease (GORD) with or without hiatus hernia. The majority of patients are misdiagnosed as having a neuromuscular or neuropsychiatric disorder ¹ due to paucity of gastro-oesophageal symptoms. Typical GORD symptoms may be present in a minority of patients. In a study by Kotagal et al., ² 16% of children aged 2 months to 5 years with paroxysmal non-epileptic events had GORD as the underlying aetiology. Although the average time from onset of symptoms to diagnosis is 1 year, the earliest reported case is in a 2-week-old neonate. ³

Although the exact pathophysiology is unknown, the arched and stretched positions are thought to relieve discomfort of reflux by increasing oesophageal motility and lowering oesophageal pressure. ⁴ However, a study by Frankel et al. ⁵ showed that involuntary abdominal contractions trigger a reflex leading to a head tilt.

24h oesophageal pH monitoring is the gold standard in the diagnosis of Sandifer syndrome. However, empirical treatment with pharmacological options is justified especially in resource-limited countries.

There are very few case reports ^3,6,7 of cases in breastfed infants. Although artificial formula feeds are usually recommended, symptoms may be controlled by medical management while continuing breastfeeding by increasing the frequency and reducing the volume of each feed.

Making a diagnosis of Sandifer syndrome in early infancy can be difficult due to lack of overt gastrointestinal symptoms and its resemblance to a neurological illness. In addition, management in early infancy without reverting to artificial feeds may be very difficult. Maintaining adequate weight gain is also a challenge. Anti-reflux medication may effectively clinch a diagnosis of Sandifer syndrome and avoid the unnecessary use of anti-seizure medications. Thus, once infantile spasms have been excluded by a normal EEG, it would be appropriate to institute a therapeutic trial of anti-reflux medication.