Sandifer Syndrome: Symptoms, Types, Causes and Treatment

Sandifer syndrome is a rare and fascinating medical condition that often presents a diagnostic challenge. Most commonly seen in infants and young children, it combines unusual neurological symptoms with underlying gastrointestinal issues—namely, gastroesophageal reflux disease (GERD). Because its symptoms can mimic serious neurological disorders, Sandifer syndrome is frequently misdiagnosed, leading to unnecessary tests and treatments. This article delves into the symptoms, types, causes, and treatments of Sandifer syndrome, drawing on a wide range of clinical research to provide a comprehensive overview for patients, families, and healthcare professionals.

Symptoms of Sandifer Syndrome

Sandifer syndrome stands out for its unique mix of distressing symptoms that can puzzle even experienced clinicians. While the hallmark signs are abnormal movements and posturing, the syndrome can involve a spectrum of neurological and gastrointestinal complaints. Early recognition is crucial for appropriate management and better outcomes.

Symptom	Description	Typical Age Group	Source(s)
Abnormal Movements	Dystonic posturing of head, neck, trunk, limbs	Infants, children, rarely adults	1, 2, 3, 4, 5, 8
Seizure-like Episodes	Paroxysmal events resembling seizures	Children	1, 2, 4, 8
Ocular Symptoms	Eye deviation, staring spells	Children	2, 4
Irritability	Frequent crying, discomfort	Infants, children	1, 2, 8
Developmental Delay	Delayed milestones, growth issues	Infants, children	2
Iron-Deficiency Anemia	Associated with chronic reflux and esophagitis	Infants, children	2
Gastrointestinal Complaints	Heartburn, regurgitation, feeding refusal	All (mainly infants/children)	2, 4, 5, 8

Table 1: Key Symptoms

The Core Neurological Symptoms

The most distinctive features of Sandifer syndrome are the abnormal movements—often described as dystonic or seizure-like. Children may exhibit:

• Repetitive, twisting, or arching movements of the head, neck, or trunk
• Sudden episodes where the head tilts or rotates (torticollis)
• Muscular spasms, sometimes involving the shoulders or limbs

These episodes can last from a few minutes to over half an hour and may occur several times a week. Importantly, the child often appears normal between episodes, and routine neurological exams (including EEG) are typically unremarkable 1, 2, 4, 5, 8.

Seizure Mimicry and Ocular Symptoms

Many cases are initially mistaken for epilepsy because the movements can appear paroxysmal or convulsive. However, EEGs during episodes are usually normal 1, 4. Some children demonstrate eye deviation or staring spells, further confusing the clinical picture 2, 4.

Irritability and Developmental Concerns

Persistent irritability, crying, and sleep disturbances are common, especially in infants. If Sandifer syndrome goes unrecognized, chronic discomfort from untreated reflux may impair weight gain and development 2.

Gastrointestinal and Associated Symptoms

While classic GERD symptoms like regurgitation, nausea, or heartburn may be present, they are not always obvious. Some children develop anemia from chronic esophagitis. Feeding difficulties, such as refusal to eat or arching after feeds, are frequent clues 2, 4, 5, 8.

Types of Sandifer Syndrome

Although Sandifer syndrome is traditionally described in children, there is increasing recognition of variability in age of onset, severity, and symptom presentation. Understanding these types helps in tailoring diagnosis and management.

Type	Key Features	Age Group	Source(s)
Classic/Infantile	Dystonic posturing, GERD, feeding issues	Infants, young children	2, 5, 8
Incomplete/Mild	Subtle or intermittent posturing, fewer GI symptoms	Any (mainly children)	9
Adult-Onset	Dystonic movements with GERD, rare	Adults	3, 4
Refractory	Symptoms not relieved by standard GERD therapy	Any	11

Table 2: Sandifer Syndrome Types

Classic (Infantile) Sandifer Syndrome

This is the most recognized form, usually emerging in infants or toddlers. It combines obvious dystonic posturing with feeding-related distress and classic GERD symptoms 2, 5, 8.

Incomplete or Mild Forms

Some children only display subtle, isolated, or intermittent movements. They may not have overt GERD symptoms, leading to frequent underdiagnosis or misattribution to behavioral or developmental issues 9.

Adult-Onset Sandifer Syndrome

Though extremely rare, Sandifer syndrome can occur in adults, typically in association with established GERD. Adult cases often present with episodic cervical dystonia (neck spasms) linked to reflux, sometimes following facial palsy or other triggers 3, 4. Adult-onset cases are often misdiagnosed for years.

Refractory Sandifer Syndrome

A minority of patients do not respond to standard GERD treatment. In such cases, alternative causes—like cow’s milk protein allergy—should be considered. Switching to hypoallergenic formulas has resolved symptoms in infants with refractory Sandifer syndrome 11.

Causes of Sandifer Syndrome

The underlying causes of Sandifer syndrome are complex and not yet fully understood. However, all research points to a close relationship between neurological symptoms and gastrointestinal pathology, particularly GERD.

Cause	Mechanism/Association	Comments	Source(s)
Gastroesophageal Reflux Disease (GERD)	Acid reflux irritates esophagus, triggers posturing	Central to syndrome	1, 2, 5, 8, 9, 10
Esophagitis	Inflammation from chronic acid exposure	Often present	6, 9, 10
Hiatal Hernia	Herniation of stomach through diaphragm	Not always present	6, 8, 9
Esophageal Dysmotility	Impaired muscle function in esophagus	Common in cases	10
Pain-Relief Posturing	Abnormal movements may reduce discomfort	Hypothesized	6, 8, 9
Milk Protein Allergy	Triggers or exacerbates GERD, especially in infants	Can cause refractory cases	11

Table 3: Causes and Mechanisms

The Central Role of GERD

Virtually all patients with Sandifer syndrome have significant GERD. Acid reflux causes irritation and inflammation (esophagitis) in the esophagus, which is believed to trigger the abnormal posturing as a way to alleviate discomfort 1, 2, 5, 8, 9, 10.

Esophagitis and Esophageal Dysmotility

Chronic acid exposure can lead to visible inflammation (esophagitis) and even iron-deficiency anemia. Esophageal dysmotility—problems with the muscular contractions that move food down the esophagus—is also commonly seen, further contributing to symptoms 6, 9, 10.

Hiatal Hernia: Not Always Present

While some early reports described hiatal hernia as a requirement for Sandifer syndrome, many patients do not have this anatomical abnormality. Its presence is not necessary for diagnosis 6, 8, 9.

Theories on Abnormal Posturing

Abnormal head and neck movements are thought to be a protective or compensatory mechanism. Children may instinctively adopt certain positions to reduce reflux or esophageal pain, though the precise neurological pathways remain unclear 6, 8, 9.

Other Factors

• Milk protein allergy: In infants, cow’s milk allergy can worsen reflux and lead to Sandifer syndrome. Some cases resolve only when hypoallergenic formulas are used 11.
• Delayed diagnosis: Because symptoms often mimic epilepsy or other neurological disorders, diagnosis can be delayed for years, especially in adults or children with mild forms 2, 4, 8.

Treatment of Sandifer Syndrome

The good news is that Sandifer syndrome is highly treatable. The main goal is to address the underlying GERD and any contributing factors. When this is done, neurological symptoms almost always resolve—sometimes dramatically.

Treatment	Approach/Intervention	Outcome	Source(s)
Medical Therapy	Acid suppressants (PPIs, H2 blockers), antacids, prokinetics	Resolution in most cases	2, 5, 8, 10
Dietary Management	Hypoallergenic/cow’s milk-free formula	For refractory cases	11
Surgical Therapy	Fundoplication (Nissen, Toupet procedures)	For severe/unresponsive cases; high success rate	5, 6, 7, 8, 10
Multidisciplinary Evaluation	Neurology, gastroenterology, surgery input	Prevents misdiagnosis	2, 8

Table 4: Treatment Approaches

Medical Management

First-line treatment is medical therapy targeting GERD. This includes:

• Proton pump inhibitors (PPIs) or H2 receptor blockers to reduce stomach acid
• Prokinetic agents to improve esophageal motility
• Antacids for symptom relief

Most patients experience quick and dramatic improvement in both gastrointestinal and neurological symptoms when reflux is controlled 2, 5, 8, 10.

Dietary Interventions

For infants who do not respond to standard GERD therapy, cow’s milk protein allergy should be suspected. Switching to an amino acid-based or extensively hydrolyzed formula can lead to complete resolution in such cases 11.

Surgical Solutions

Surgery is reserved for those with severe GERD not controlled by medication or with significant anatomical abnormalities. The most common procedure is Nissen fundoplication, where the upper part of the stomach is wrapped around the lower esophagus to prevent reflux. Surgery is highly effective and typically results in rapid disappearance of neurological symptoms 5, 6, 7, 8, 10.

Multidisciplinary Approach and Importance of Early Diagnosis

Because Sandifer syndrome mimics neurological and even psychiatric disorders, input from multiple specialties—pediatrics, neurology, gastroenterology, surgery—is essential. Early recognition prevents unnecessary investigations and treatments, reducing potential side effects and distress for families 2, 8.

Conclusion

Sandifer syndrome is a rare but important condition where gastrointestinal issues manifest as striking neurological symptoms. Early recognition and appropriate treatment can transform the outlook for affected children and adults. Here’s a summary of what we've covered:

• Sandifer syndrome combines abnormal neurological movements with underlying GERD.
• Symptoms include dystonic posturing, seizure-like episodes, irritability, and sometimes developmental delay or anemia.
• Forms vary from classic (infantile) to rare adult-onset and mild/incomplete cases.
• The primary cause is GERD, but esophageal dysmotility, esophagitis, and milk protein allergy can play roles.
• Treatment focuses on controlling GERD with medication, dietary changes, or surgery—almost always resulting in symptom resolution.
• A multidisciplinary approach and early diagnosis are key to avoiding unnecessary treatments and improving outcomes.

By increasing awareness of Sandifer syndrome among healthcare providers and families, we can ensure timely diagnosis and effective management, giving patients the best chance for a full recovery and healthy development.