Sandifer Syndrome
Sandifer Syndrome
Sandifer syndrome is a rare paroxysmal movement disorder characterized by spasmodic torsional dystonia with posturing of the head and neck, primarily associated with gastroesophageal reflux disease (GERD) and feeding disorders in infants and young children.
Key Points
- Peak age: 18-24 months
- Strong association with GERD (>90%)
- Often misdiagnosed as seizures
- More common in neurologically impaired children
- Episodes typically occur during or after feeding
Epidemiology
- Prevalence: Unknown (likely underreported)
- Male:Female ratio - approximately equal
- Higher incidence in infants with:
- Hiatal hernia
- Developmental delays
- Feeding difficulties
Clinical Features
Characteristic Movements
- Sudden onset dystonic posturing
- Head and neck extension or rotation
- Back arching (opisthotonus)
- Torticollis-like movements
- Upper body spasms
- Episode Characteristics
- Duration: seconds to minutes
- Frequency: multiple times per day
- Temporal relation to feeds
- Resolution during sleep
Associated Symptoms
- Feeding-related
- Regurgitation
- Feeding difficulties
- Irritability during feeds
- Poor weight gain
- GERD symptoms
- Heartburn
- Vomiting
- Esophagitis
- Food refusal
Distinguishing Features
- Preserved consciousness
- No post-ictal phase
- Normal EEG during episodes
- Improvement with anti-reflux measures
Diagnostic Approach
Initial Evaluation
- Detailed history
- Feeding patterns
- Episode characteristics
- Developmental history
- Family history
- Physical examination
- Growth parameters
- Neurological examination
- Observation during feeds
- Signs of complications
Diagnostic Studies
- GERD evaluation
- 24-hour pH monitoring
- Impedance testing
- Upper GI series
- Endoscopy (if indicated)
- Neurological evaluation
- EEG (to rule out seizures)
- Brain imaging (if indicated)
- Video recording of episodes
Differential Diagnosis
- Neurological conditions
- Infantile spasms
- Dystonia
- Seizure disorders
- Gastrointestinal disorders
- Isolated GERD
- Cow's milk protein allergy
- Eosinophilic esophagitis
Management Approaches
GERD Management
- Lifestyle modifications
- Feeding position
- Thickened feeds
- Small, frequent feeds
- Post-feed positioning
- Medications
- Proton pump inhibitors
- H2 receptor antagonists
- Prokinetics (if indicated)
Supportive Care
- Feeding therapy
- Positioning techniques
- Feed modification
- Parent education
- Physical therapy
- Positioning support
- Muscle strengthening
- Movement therapy
Surgical Intervention
- Indications
- Refractory symptoms
- Severe GERD
- Failure to thrive
- Procedures
- Fundoplication
- Gastrostomy tube placement
Complications & Prognosis
Potential Complications
- Growth-related
- Failure to thrive
- Malnutrition
- Feeding aversion
- GERD-related
- Esophagitis
- Barrett's esophagus
- Aspiration
- Psychosocial impact
- Parent anxiety
- Feeding stress
- Social isolation
Prognosis
- Generally good with appropriate treatment
- Resolution factors
- Age of onset
- Severity of GERD
- Underlying conditions
- Treatment compliance
- Long-term outcomes
- Most resolve with GERD treatment
- May persist in neurologically impaired children
- Regular monitoring needed