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Sandifer syndrome, or Sandifer’s syndrome, is a rare medical condition that most often occurs in infancy or late childhood, with a peak prevalence around 1 1/2 to 3 years of age. In neurologically impaired children, however, the onset may occur as late as adolescence. This syndrome is characterized by gastrointestinal symptoms, such as gastroesophageal reflux disease (GERD) or hernias, and certain neurological signs.
The neurological features of Sandifer syndrome usually involve spasmodic torticollis, or chronic involuntary movements of the neck in right, left, up or down directions, and dystonia, in which sustained muscle contractions cause twisting and writhing movements and abnormal postures. Although this condition does not have a neurological basis, it is often misdiagnosed as epileptic seizures due to these neurological signs. The spasms associated with this syndrome may last several minutes and can occur frequently throughout the day, although they are often associated with feeding.
A frequent initiating factor of Sandifer syndrome is the dysfunction of the lower esophagus; however, in some children a definite cause is never identified. Although the causes of the neurological features of this syndrome are not clearly understood, it is thought that this syndrome may be a defense mechanism developed in some babies to deal with the pain of acid reflux. The head and neck positions associated with this syndrome may give some relief from acid reflux discomfort. Additionally, the twisting movements and the abnormal postures may be an attempt to clear acid from the esophagus.
Diagnosing Sandifer syndrome can often be accomplished simply from the parental reports of symptoms or from a videotape of the child’s abnormal posturing. A pH probe, or pH monitoring, may be used to confirm the presence of acid reflux. Additionally, video EEG monitoring may also be used to rule out the presence of true seizures or other neurological problems.
Once diagnosed, the prognosis for Sandifer syndrome is generally quite good. Treatment almost always involves the treatment of the underlying GERD or hiatal hernia, which usually results in diminishment of the other symptoms. Lasting effects are rarely reported.
Occasionally, cases of this syndrome may be severe enough that surgery is required. This is usually limited to cases in which gastroesophageal disease has been confirmed and it has started to interfere with the child’s growth and development. In these situations, fundoplication, the standard surgical treatment for GERD, may be necessary to ensure that development progresses normally.
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