Approach Considerations
Sandifer syndrome is a clinical diagnosis, and most infants have normal physical examination findings. Thus, empiric interventions and therapy are warranted in the absence of clinically concerning features, such as the following:
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Abnormal results of a baseline neurologic examination
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Clinical or historical features that suggest an underlying metabolic or genetic disorder
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Concerns about nutritional status
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Respiratory complications
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Known seizure disorder
Laboratory Studies
A stool guaiac test may be useful; occult gastrointestinal (GI) bleeding may occur with gastroesophageal reflux disease (GERD) and esophagitis or with milk protein allergy, both of which may be causative.
If there are clinical concerns about nutritional or metabolic status, then screening tests such as basic chemistry panels, blood cell counts, or urinalysis may be useful.
Imaging Studies
Upper GI imaging (eg, fluoroscopic imaging of swallowed barium) is not recommended as a means of diagnosing gastroesophageal reflux or GERD; the study is neither sufficiently sensitive nor specific. Furthermore, the presence or degree of reflux does not correlate with the severity of possible esophageal mucosal inflammation. Upper GI imaging may be useful to screen out other anatomic abnormalities, such as hiatal hernia if that is a clinical concern, for example, in an older child.
Gastroesophageal scintigraphy is not recommended in the routine evaluation of pediatric gastroesophageal reflux.
Cranial magnetic resonance imaging may be helpful in defining the nature of neurologic deficits in children with mental impairment or in ruling out concomitant cranial anatomic abnormalities.
Other Tests and Procedures
Video-electroencephalography monitoring can help differentiate seizures from posturing related to reflux and can be combined with a pH probe/multichannel intraluminal impedance (MII) study to demonstrate the nature of the episodes and any correlation with findings of reflux.
The traditional use of a 24-hour pH probe to document the acidity (pH < 4) of reflux and its duration is no longer considered a primary modality in defining or characterizing the severity of GERD. MII testing, which measures the passage—both anterograde and retrograde—of air, fluids, and solids in the esophagus, is another modality used to correlate symptoms and reflux. Clinical practice guidelines recommend the use of combined MII and pH testing on a single probe to enhance the quality and usefulness of each. [8]
Endoscopy with performance of esophageal biopsy is the most sensitive way to diagnose esophageal inflammation due to reflux and may be useful to rule out other conditions that can cause esophageal inflammation, which could mimic GERD. In general, an invasive procedure requiring sedation such as endoscopy should be limited to patients with unusual presentations and to those who are not responsive to more conservative tests and the usual interventions and therapies.
There are no histologic findings that define Sandifer syndrome. If endoscopy with esophageal biopsy is performed, the results may confirm conditions ranging from mucosal inflammation to erosive esophagitis that can cause Sandifer syndrome.
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Diagram illustrating the Nissen fundoplication. Note how the stomach is wrapped around the esophagus (360º wrap).
