# Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis

**Authors:** Giorgia Segre, Martina Penzo, Giovanna Zorzi, Federica Graziola

PMC · DOI: 10.3390/reports8010029 · 2025-03-10

## TL;DR

A 16-month-old infant showed brief, unexplained head tilting episodes that resolved with acid reflux treatment, suggesting a rare condition called Sandifer syndrome.

## Contribution

This case report highlights an atypical presentation of Sandifer syndrome with short, isolated posturing episodes in an infant.

## Key findings

- The infant's symptoms resolved after treatment with a proton pump inhibitor, indicating a link to acid reflux.
- The case demonstrates that Sandifer syndrome can present with brief, isolated posturing without other neurological symptoms.
- Early recognition of this condition can prevent unnecessary neurological evaluations in infants.

## Abstract

Background and Clinical Significance: Sandifer syndrome is an uncommon manifestation of gastroesophageal reflux disease, characterized by paroxysmal episodes of abnormal posturing, particularly involving the neck and upper body, often associated with underlying esophageal discomfort. Case Presentation: In this report, we present a 16-month-old infant who exhibited multiple daily paroxysmal episodes of atypical head posturing, primarily tilted to the right, each lasting less than 10 s, with spontaneous resolution. Notably, these episodes lacked other neurological or systemic symptoms, and the clinical presentation differed from classical descriptions of Sandifer syndrome, which often include more prolonged dystonic posturing or correlation with feeding. The diagnosis was supported by the resolution of symptoms following the administration of a proton pump inhibitor, highlighting the importance of recognizing this condition in infants with unexplained posturing behaviors. Conclusions: This case emphasizes the variability in clinical manifestations of Sandifer syndrome and underscores the need for a high index of suspicion, as timely management of gastroesophageal reflux disease can lead to complete symptom resolution and prevent unnecessary neurological investigations.

## Linked entities

- **Diseases:** gastroesophageal reflux disease (MONDO:0007186), Sandifer syndrome (MONDO:0019104)
- **Species:** Homo sapiens (taxon 9606)

## Full-text entities

- **Diseases:** dystonic posturing (MESH:D054972), gastroesophageal reflux disease (MESH:D005764), Paroxysmal Torticollis (MESH:D014103), Sandifer Syndrome (MESH:C537234)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12199929/full.md

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Source: https://tomesphere.com/paper/PMC12199929