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Sandifer Syndrome

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What is Sandifer syndrome?

This is a rare medical condition that will most often happen in infancy or late childhood. The peak prevalence is between eighteen months and three years of age. In some children that are neurologically impaired, it may occur as late as adolescence. It is also known as Sandifer’s syndrome. Because Sandifer syndrome has a neurological basis it is often misdiagnosed as an epileptic seizure.


Symptoms and Characteristics

With Sandifer syndrome, it is characterized by certain neurological signs like:

  • Spasmodic torticollis, which is the chronic involuntary movements of their neck in up, down, right, or left directions
  • Dystonia, which is sustained muscle contractions cause writhing and twisting movements along with an abnormal posture

The spasms that are associated with Sandifer syndrome can last several minutes and occur frequently throughout the day. They are often associated with feeding.

There are also gastrointestinal symptoms like:

  • Hernias
  • Gastroesophageal reflux disease (GERD)

The child may also display gurgling sounds.

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Causes

The causes of the neurological features of Sandifer syndrome are not understood there is a frequent initiating factor. This is the dysfunction of their lower esophagus, which is the section of their digestive system that leads from their mouth to their stomach. It is also thought that it is a defense mechanism that some babies develop to deal with the pain of acid reflux, which is when their stomach acid creeps back up into the esophagus. It is commonly known as heartburn. The neck and head positions associated with Sandifer syndrome may also give the baby some relief from the discomfort of acid reflux. They may also do the abnormal postures and twisting movements as an attempt to clear this acid from their esophagus.

Diagnosis

Sandifer syndrome can be diagnosed by the physician watching a videotape of the abnormal posturing of the child or from the symptoms listed by the parents. They may also do a pH probe, which is when a thin tube or probe is placed in the child’s esophagus to help the physician to diagnose and treat acid reflux. The readings from this test are taken over a twenty-four hour span so the child must spend the night in the hospital. It measures the seriousness and amount of acid juices that may be backing up into their esophagus. The physician may also order a video EEG monitoring of their brain activity to rule out any neurological problems and the presence of true seizures.

Treatment

Once it has been officially diagnosed that the child has Sandifer syndrome treatment involves treating the hernia or the underlying GERD conditions. Once they are treated, the other symptoms will usually diminish. It is rarely reported of any lasting effects. If Sandifer syndrome is severe enough the child may need surgery but this is normally limited to cases where gastroesophageal disease has been confirmed and is interfering in their development and growth. If surgery were needed, the standard surgical treatment for GERD would be fundoplication. This is when the upper part of their stomach is repositioned and sutured under general anesthetics. By doing this it will allow for easier esophageal passage through their stomach. If the surgery is done for a hernia it is removed from the chest area and repositioned in their stomach, then sutured in place.

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