Clinical scenario: abnormal neck arching after feed| cause
A 7-month-old infant has recurrent episodes of abnormal neck extension and back arching immediately after feeds. The episodes last 1–2 minutes, and the child remains conscious throughout. EEG is normal. Growth has crossed from the 50th to the 10th percentile.
What is the most likely underlying diagnosis?
A. Infantile spasms
B. Dystonia
C. Gastroesophageal reflux disease
D. Benign neonatal sleep myoclonus
E. Breath-holding spells
Correct answer & Explanation:
Correct Answer: C. Gastroesophageal reflux disease (Sandifer syndrome)
Explanation
This infant has Sandifer syndrome, a rare but classic manifestation of gastroesophageal reflux disease (GERD). It is characterized by paroxysmal dystonic posturing of the head, neck, and trunk, typically occurring during or immediately after feeding. The abnormal movements are thought to represent a protective response to esophageal pain caused by acid reflux.
The key clinical clues are:
- Episodes occurring immediately after feeds
- Neck extension (retrocollis) and back arching (opisthotonus)
- Preserved consciousness during episodes
- Normal EEG, excluding epileptic seizures
- Failure to thrive, suggesting clinically significant GERD
Recognition of Sandifer syndrome is important because it is frequently misdiagnosed as epilepsy, resulting in unnecessary neurological investigations and treatment.
Why the other options are incorrect
A. Infantile spasms
- Typically occur in clusters, are not related to feeding, are associated with developmental regression, and show hypsarrhythmia on EEG.
B. Dystonia
- Although Sandifer syndrome involves dystonic posturing, primary dystonia is not characteristically triggered by feeding and is not associated with GERD.
D. Benign neonatal sleep myoclonus
- Occurs only during sleep, consists of myoclonic jerks rather than sustained posturing, and resolves on awakening.
E. Breath-holding spells
- Usually occur in children 6 months to 6 years after crying or emotional upset, often with cyanosis or pallor, and are unrelated to feeding.
High-yield pearl
Sandifer syndrome should be suspected in any infant with recurrent dystonic neck posturing or back arching that occurs during or shortly after feeding, particularly when associated with vomiting or poor weight gain. Confirmation is by demonstrating pathological gastroesophageal reflux (often with 24-hour pH-impedance monitoring when the diagnosis is uncertain), and the abnormal movements typically resolve with effective treatment of GERD.
