Understanding Sandifer Syndrome: Symptoms and Treatment

Sandifer Syndrome, though not widely known, is a condition that primarily affects infants and young children. Due to its peculiar manifestations, it is often mistaken for other disorders. 

In this comprehensive guide, we will delve into the symptoms, causes, diagnosis, and treatment of Sandifer Syndrome, providing valuable insights for parents, caregivers, and medical professionals.


What is Sandifer Syndrome?

Sandifer Syndrome is a rare disorder characterized by abnormal posturing and movements. It is typically associated with gastroesophageal reflux disease (GERD)

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Causes of Sandifer Syndrome

The exact etiology of Sandifer Syndrome remains unclear. However, it is strongly associated with GERD, a condition where stomach contents flow back into the oesophagus, causing irritation and discomfort. This reflux can lead to spasmodic torticollis and dystonic body movements, hallmark features of Sandifer Syndrome.

Contributing factors may include:

  • Hiatal Hernia : A condition where part of the stomach pushes through the diaphragm, exacerbating reflux.
  • Esophageal Motility Disorders: Abnormal muscle contractions of the oesophagus can increase reflux episodes.
  • Dietary Factors: Certain foods may aggravate reflux symptoms, triggering Sandifer Syndrome episodes.

Symptoms of Sandifer Syndrome

The symptoms of Sandifer Syndrome can vary widely among individuals, often leading to misdiagnosis. Key symptoms include:

Abnormal Posturing and Movements

Children with Sandifer Syndrome exhibit peculiar postures, such as arching of the back, tilting of the head, and stiffening of limbs. These episodes are often mistaken for seizures but are non-epileptic.

Gastrointestinal Symptoms

Given its association with GERD, children may experience:

  • Frequent vomiting or regurgitation
  • Irritability during feeding
  • Poor weight gain due to feeding difficulties

Respiratory Symptoms

Some children may develop respiratory issues, such as chronic cough or wheezing, due to aspiration of stomach contents into the lungs.


Diagnosis of Sandifer Syndrome

Diagnosing Sandifer Syndrome can be challenging due to its rarity and symptom overlap with other conditions. A thorough evaluation by a paediatrician or a pediatric gastroenterologist is crucial.

Clinical Evaluation

A detailed history of the child's symptoms, including the timing and nature of posturing episodes, is essential. Physicians may also inquire about feeding habits and any associated gastrointestinal symptoms.

Differential Diagnosis for Sandifer Syndrome

Given its unusual presentation, Sandifer Syndrome must be differentiated from:

  • Epileptic Seizures : EEG monitoring may be necessary to rule out epilepsy.
  • Cerebral Palsy: Neurological evaluations can help distinguish between these conditions.
  • Musculoskeletal Disorders : Orthopedic assessments may be needed if musculoskeletal issues are suspected.

Diagnostic Tests

  • pH Monitoring: This test measures acid levels in the oesophagus, confirming GERD.
  • Endoscopy: Visual inspection of the oesophagus and stomach can reveal inflammation or hiatal hernias.
  • Upper GI Series: This imaging test uses barium to highlight the digestive tract and identify reflux-related abnormalities.

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Treatment of Sandifer Syndrome

The primary goal of treating Sandifer Syndrome is to manage GERD, which in turn alleviates associated symptoms. Treatment options include:

Medical Management

  • Proton Pump Inhibitors (PPIs): Medications such as omeprazole or lansoprazole reduce stomach acid production, minimizing reflux.
  • H2 Receptor Antagonists: These drugs, like ranitidine, also lower acid levels and may be used in conjunction with PPIs.
  • Antacids: Over-the-counter options can provide immediate relief for occasional symptoms.

Dietary Modifications

Implementing changes in the child's diet can significantly impact symptom management. Strategies include:

  • Thickening Feeds: Adding rice cereal to formula or breast milk may reduce regurgitation episodes.
  • Elimination Diets: Identifying and removing trigger foods, such as dairy or soy, can be beneficial.
  • Frequent, Smaller Meals: Smaller, more frequent feedings can help minimize reflux.

Surgical Intervention

In severe cases unresponsive to medical treatment, surgical options may be considered:

  • Nissen Fundoplication: A procedure that strengthens the lower oesophagal sphincter, preventing reflux.
  • Hiatal Hernia Repair: Surgical correction of a hiatal hernia can alleviate GERD symptoms.

Prognosis and Long-term Outcomes

With appropriate management, the prognosis for children with Sandifer Syndrome is generally favourable. As children grow and their digestive systems mature, GERD symptoms often diminish, leading to a reduction in Sandifer episodes. Early diagnosis and intervention are crucial to preventing complications and ensuring optimal development.

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Frequently Asked Questions

1. What causes Sandifer syndrome?

Caused by gastroesophageal reflux disease (GERD) or hiatal hernia.

2. What are the symptoms of Sandifer syndrome?

Symptoms include abnormal posturing, spasms, and neck arching, often following meals.

3. How is Sandifer syndrome diagnosed?

Diagnosed through a combination of clinical evaluation, esophageal pH monitoring, and sometimes imaging tests.

4. What is the differential diagnosis for Sandifer syndrome?

Conditions like epilepsy, dystonia, and other neurological disorders should be ruled out.

5. What are the treatment options for Sandifer syndrome?

Treatment involves managing GERD through medications, dietary changes, and in some cases, surgery.

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