Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
Giorgia Segre, Martina Penzo, Giovanna Zorzi, Federica Graziola

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.
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…
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
Click any figure to enlarge with its caption.
Figure 1Peer Reviews
No public reviews on file for this paper yet. If you reviewed it on a platform where reviews are public (OpenReview, ICLR, NeurIPS, ICML), you can paste yours below so the community can read it here.
Videos
No videos yet. Explain this paper in a talk, walkthrough, or lecture? Add one.
Taxonomy
TopicsGastroesophageal reflux and treatments · Congenital Diaphragmatic Hernia Studies · Neurogenetic and Muscular Disorders Research
