Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis

<b>Background and Clinical Significance</b>: 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 discomfo...

Full description

Saved in:
Bibliographic Details
Main Authors: Giorgia Segre, Martina Penzo, Giovanna Zorzi, Federica Graziola
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Reports
Subjects:
Online Access:https://www.mdpi.com/2571-841X/8/1/29
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850087993812975616
author Giorgia Segre
Martina Penzo
Giovanna Zorzi
Federica Graziola
author_facet Giorgia Segre
Martina Penzo
Giovanna Zorzi
Federica Graziola
author_sort Giorgia Segre
collection DOAJ
description <b>Background and Clinical Significance</b>: 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. <b>Case Presentation</b>: 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. <b>Conclusions</b>: 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.
format Article
id doaj-art-7d2c6a0fa1bb474f91e6305fcdef76c7
institution DOAJ
issn 2571-841X
language English
publishDate 2025-03-01
publisher MDPI AG
record_format Article
series Reports
spelling doaj-art-7d2c6a0fa1bb474f91e6305fcdef76c72025-08-20T02:43:06ZengMDPI AGReports2571-841X2025-03-01812910.3390/reports8010029Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal TorticollisGiorgia Segre0Martina Penzo1Giovanna Zorzi2Federica Graziola3Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyDepartment of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyDepartment of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyDepartment of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy<b>Background and Clinical Significance</b>: 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. <b>Case Presentation</b>: 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. <b>Conclusions</b>: 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.https://www.mdpi.com/2571-841X/8/1/29Sandifer syndromeparoxysmal torticollisabnormal head posturegastroesophageal reflux diseaseparoxysmal nonepileptic events
spellingShingle Giorgia Segre
Martina Penzo
Giovanna Zorzi
Federica Graziola
Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
Reports
Sandifer syndrome
paroxysmal torticollis
abnormal head posture
gastroesophageal reflux disease
paroxysmal nonepileptic events
title Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
title_full Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
title_fullStr Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
title_full_unstemmed Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
title_short Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis
title_sort sandifer syndrome case report an unusual presentation with paroxysmal torticollis
topic Sandifer syndrome
paroxysmal torticollis
abnormal head posture
gastroesophageal reflux disease
paroxysmal nonepileptic events
url https://www.mdpi.com/2571-841X/8/1/29
work_keys_str_mv AT giorgiasegre sandifersyndromecasereportanunusualpresentationwithparoxysmaltorticollis
AT martinapenzo sandifersyndromecasereportanunusualpresentationwithparoxysmaltorticollis
AT giovannazorzi sandifersyndromecasereportanunusualpresentationwithparoxysmaltorticollis
AT federicagraziola sandifersyndromecasereportanunusualpresentationwithparoxysmaltorticollis