For four months, a toddler in Italy kept tilting their head sharply to one side, mostly to the right. Each episode lasted less than 10 seconds and resolved on its own, but the spells came several times a day and were more noticeable while the child was walking.
Neurologists searched widely for the cause with a brain MRI, a sleep EEG, genetic testing, and eye exams. Nearly everything came back normal.
The answer turned out to lie in the digestive tract, not the brain. About a week after the child started a reflux medicine, the head tilting stopped completely. Doctors at the Fondazione IRCCS Istituto Neurologico Carlo Besta and the University of Milan diagnosed Sandifer syndrome, a rare condition in which acid reflux shows up as abnormal postures of the head and neck.
Giorgia Segre, Martina Penzo, Giovanna Zorzi and Federica Graziola described the case in March 2025 in the journal Reports.
A Workup Built for a Neurological Disorder
The episodes began when the child was 12 months old. No one in the family had neurological or digestive disorders. The child’s appetite had dropped in the two weeks before the head tilting began, around the time of an infection.
The neurological exam was largely normal, though the child sometimes walked on tiptoe and seemed unsteady when changing positions. The team first suspected benign paroxysmal genetic dystonia, an inherited condition that causes brief, recurring bouts of abnormal posture, and tested genes including CACNA1A and PRRT2. Those tests were negative.
A sleep EEG picked up isolated spikes in the back of the brain, which the authors said were of uncertain significance. A brain MRI, eye exams, and nerve testing were normal. Developmental testing placed the child at a developmental age of 15 months at a chronological age of 16 months, within the average range.
None of the Usual Reflux Signs
What made the case unusual was what was missing. Sandifer syndrome episodes are often linked to meals and accompanied by signs of discomfort such as irritability. This child’s episodes had no link to eating, and the report describes no digestive complaints.
The doctors prescribed esomeprazole, a proton pump inhibitor that reduces stomach acid, at 0.8 milligrams per kilogram of body weight per day as an empiric trial. The episodes stopped after one week, with no side effects reported.
The authors estimate that Sandifer syndrome affects fewer than 1% of children with reflux disease, mostly between 18 and 36 months of age. Cleveland Clinic cites a similar figure, noting that about 7% of U.S. infants have reflux disease and fewer than 1% of those develop the muscle spasms.
Often Mistaken for Seizures
Sandifer syndrome is easily confused with epilepsy, dystonia, and other neurological conditions. In a 2020 BMJ Case Reports case, a 3-year-old girl had recurrent head drops and falls, one of which broke her collarbone, before doctors connected her symptoms to reflux.
The condition was first described in the 1960s, and most reported cases since then have involved young children who were otherwise neurologically normal, with no clear difference between boys and girls. Its exact mechanism is still not fully understood. One theory holds that the postures are a reflexive response to the pain of acid in the esophagus. When treatment is needed, Cleveland Clinic notes, doctors typically start with feeding changes and add anti-reflux medicines only if those do not work.
The Milan report has an important weakness, which the authors acknowledged. They did not confirm reflux with pH-impedance monitoring or an endoscopy, citing the tests’ invasiveness and the child’s young age. The diagnosis rests on the child’s response to treatment, and the report does not describe longer-term follow-up.
Reflux Drugs Are Not a Default for Fussy Babies
The case should not be read as a reason to give acid blockers to every unsettled baby. Joint 2018 guidelines from North American and European pediatric gastroenterology societies recommend against using proton pump inhibitors or H2 blockers to treat crying, distress, or visible spit-up in otherwise healthy infants. The same guidelines recommend proton pump inhibitors as first-line treatment for reflux-related erosive esophagitis, and they list dystonic neck posturing, or Sandifer syndrome, among the signs that can point to reflux disease in infants, as a University of Iowa guide for clinicians summarizes.
The practical lesson is for clinicians and parents facing an unexplained movement disorder in a young child. When neurological tests come back normal, reflux belongs on the list, even without classic stomach symptoms. The authors argued that recognizing the condition and treating reflux in time can resolve the symptoms completely and spare children unnecessary neurological testing.
Parents who notice repeated head tilting, neck twisting, or back arching in a baby or toddler should talk with their pediatrician. Recording the episodes on video can help doctors tell them apart from seizures.
Key Questions Answered
What happened to the toddler?
From 12 months of age, the child had brief daily episodes of head tilting, mostly to the right, each lasting under 10 seconds.
What tests did doctors run?
A brain MRI, sleep EEG, genetic testing, eye exams, and nerve studies. Nearly all were normal.
What is Sandifer syndrome?
A rare condition in which acid reflux causes abnormal head, neck, or body postures that can mimic neurological disorders.
How was it treated?
With esomeprazole, a reflux medicine. The episodes stopped after about a week.
Was the reflux confirmed?
No. The doctors did not perform pH monitoring or an endoscopy, so the diagnosis rests on the response to treatment.
Should parents give reflux medicine to fussy babies?
No. Guidelines advise against acid blockers for crying or spit-up in otherwise healthy infants. Parents should consult a pediatrician.
Published by Medicaldaily.com
