Sandifer syndrome (see also ALTE)

 Sandifer syndrome is the association of torsional dystonia, mainly involving the neck and upper extremities, with either esophageal reflux or hiatus hernia. Often, pediatric neurologists are the first to see patients with Sandifer syndrome because the primary care provider thinks that spasms represent seizures. Few reports of this syndrome exist; however, pediatric neurologists and gastroenterologists see patients with this complex not infrequently. The syndrome is most likely underrecognized. Sandifer syndrome is thought to result in enhanced esophageal clearance of refluxed material.

 Incidence is unknown, although some suggestion indicates that in clinical practice it occurs in less than 1% of children with gastroesophageal reflux.

 Age: Typically, Sandifer syndrome is observed from infancy to early childhood. Children with severe mental impairment may experience Sandifer syndrome into adolescence.

History: Sandifer syndrome is most commonly mistaken for seizures. The child typically appears to have an alteration in mental status associated with the tonic posturing.

• A relationship with feeding may suggest a diagnosis of Sandifer syndrome. Sandifer complex commonly occurs shortly after feeding.

• The child may have a sudden rotation of the head and neck to one side and the legs to the opposite side with a stretched out appearance. The child may also present with torticollis.

• Bizarre postures can be observed.

• Typically, the duration of the posture is 1-3 minutes.

• This duration accounts for the fact that the movement observed in Sandifer syndrome is commonly mistaken for seizures.

• During the posture, the infant may become very quiet or, less commonly, become very fussy. Fussiness is most commonly observed after the posture abates.

Physical: In children with Sandifer syndrome without mental impairment, the examination findings are normal. Children with Sandifer syndrome with mental impairment often have evidence of spasticity and may be diagnosed with cerebral palsy.

• Sandifer syndrome in infants is most commonly associated with normal examination findings.

• Sandifer syndrome in older children may be associated with mental impairment.

Causes: Dysfunction of the lower esophagus is thought to be the most common precipitating factor. In some children, a cause cannot be found.

• Gastroesophageal reflux disease

• Dysmotility of the esophagus: Esophageal dysmotility, characterized by low-amplitude waves, lack of normal propagation, and low lower esophageal sphincter (LES) pressure, is not the cause but most likely the consequence of esophagitis.

Other Problems to be Considered:

Seizures
Tonic seizures
Torticollis
Dystonia

Lab Studies:

• pH monitoring is useful in demonstrating gastroesophageal reflux.

Imaging Studies:

• Barium swallow studies are used less frequently, although they may be useful to document anatomy and the possible association with hiatal hernia.

• Cranial MRI is helpful to define the nature of the neurologic deficits in children with mental impairment.

Other Tests:

• Video-EEG monitoring helps differentiate seizures from posturing related to reflux and can be combined with a pH probe study to demonstrate the nature of the spells.

Procedures:

• Endoscopy may confirm anatomy and allows biopsies to be obtained to confirm mucosal changes due to esophagitis.

Medical Care: Sandifer syndrome does not require treatment unless the spasms are related to GI causes. In the latter case, therapy should be directed towards the specific cause i.e Gastroesophageal reflux

• The primary aim of medical care is to identify Sandifer syndrome.

• This can be accomplished most often by soliciting a careful history of the times of day the spasms occur and the precipitating causes.

• If recognizing the complex is difficult, then video-EEG monitoring may be of value.

• Often, parent education and explanation regarding the nature of the spasms are all that is required in treatment of this condition. If the patient does have pathologic gastroesophageal reflux or complications from gastroesophageal reflux such as esophagitis, then therapy for gastroesophageal reflux, or specifically for esophageal peptic disease, is indicated.

• Muscle relaxants could be used in patients with Sandifer syndrome in whom a GI cause has been excluded and seizurelike postures are causing distress and discomfort for the patient or their family. However, muscle relaxants have not been demonstrated to relieve the seizurelike manifestations of Sandifer syndrome.

Consultations:

• Primary consultations should be with a gastroenterologist.

• If any doubt exists as to the nature of the seizurelike activity or if the child has underlying neurologic impairment, a consultation with a pediatric neurologist could be of benefit.

Diet: When gastroesophageal reflux is discovered, treatment must be directed at the reflux. Please see

Drug Category: Prokinetic agents -- Used to augment cholinergic activity. Prokinetic pharmacotherapy is often used before acid suppression therapy in children without evidence of esophagitis because of the predominance of motility-related problems over increased acid (and regurgitation over pain) in the pathogenesis and presentation.

Metoclopramide (Reglan) -- Dopaminergic antagonist that works by increasing LES tone and gastric emptying. Stimulates muscular activity, leading to decrease in reflux.

Drug Category: Antacids -- Used as diagnostic tool in providing symptomatic relief in infants. Associated benefits include symptomatic alleviation of constipation (aluminium antacids) or loose stools (magnesium antacids). Aluminum hydroxide (ALternaGEL, Amphojel) -- Increases gastric pH above 4 and inhibits proteolytic activity of pepsin, reducing acid indigestion. Antacids can initially be used in mild cases. No effect on frequency of reflux but decreases its acidity.

Drug Category: H2 receptor antagonists -- Like antacids, these agents do not reduce the frequency of reflux, but they decrease the amount of acid in the refluxate by inhibiting acid production. All are equipotent when used in equivalent doses. Work best in patients with nonerosive esophagitis. Because of proton pump inhibitor (PPI) superiority, H2 blockers are reserved for use in patients unable to tolerate PPIs. Cimetidine (Tagamet) -- Inhibits histamine at H2 receptors of gastric parietal cells, resulting in reduced gastric acid secretion, gastric volume, and hydrogen ion concentrations. Ranitidine (Zantac) -- Inhibits histamine stimulation of the H2 receptor in gastric parietal cells, which reduces gastric acid secretion, gastric volume, and hydrogen ion concentrations.

Drug Category: Proton pump inhibitors -- Indicated in patients needing complete acid suppression (eg, infants with chronic respiratory disease or neurologic disabilities). Administer with the first meal of the day (children with nasogastric or gastrostomy tubes may have granules mixed with an acidic juice, then flush tubes to prevent blockage). Omeprazole (Prilosec) -- Decreases gastric acid secretion by inhibiting the parietal cell H⁺/K⁺-ATP pump. Used for the short-term treatment (4-8 wk) of GERD.

Prognosis:

• Typically, Sandifer syndrome is not life threatening. Many patients with the condition eventually outgrow the spasms in later childhood.

Medical/Legal Pitfalls:

• The diagnosis of Sandifer syndrome should not be made without adequate study.
• Patients may have infantile spasms that require relatively rapid treatment and management. An EEG often helps exclude infantile spasms. In infantile spasms, a hypsarrhythmia is observed on EEG.