Sandifer Syndrome Workup
- Author: Pegeen Eslami, MD; Chief Editor: Carmen Cuffari, MD more...
Generally speaking, this is a clinical diagnosis and most infants have a normal physical exam as noted above. As such empiric interventions and therapy are warranted in the absence of clinically concerning features, such as a baseline abnormal neurologic exam, clinical or historic features that suggest an underlying metabolic or genetic disorder, concerns about nutritional status, respiratory complications, known seizure disorder.
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- Guaiac testing of fecal sample may be useful; occult GI bleeding may occur with 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 chemistries, blood counts or urinalysis may be useful
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- Upper GI imaging eg fluoroscopic imaging of swallowed barium is not currently recommended as a means of diagnosing GER or GERD ; it is neither sufficiently sensitive nor specific. Further the presence or degree of reflux does not correlate with severity of possible esophageal mucosal inflammation. Upper GI 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
- Gastroesphageal scintigraphy is not recommended in the routine ealuation of pediatric GER
- Cranial MRI may be helpful in defining the nature of neurologic deficits in children with mental impairment, or in ruling out concomitant cranial anatomic abnormalities
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- Video-EEG monitoring can help differentiate seizures from posturing related to reflux and can be combined with a pH probe/ MII study to demonstrate the nature of the spells and any correlation with findings of reflux.
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- The traditional use of a 24 pH probe to document the acidity (pH < 4) of reflux and its duration are no longer considered a primary modality in defining or characterizing the severity of GERD. Multiple intraluminal impedance testing, which measures passage, both antero- and retro-grade of air, fluids and solids in the esophagus, is another modality used to correlate symptoms and reflux. Current recommendations are to use combined MII and pH testing on a single probe to enhance the quality and usefulness of each.
- Endoscopy with performance of esophageal biopsy is the most sensitive way to diagnosis esophageal inflammation due to reflux and may be useful to rule out other conditions may cause esophageal inflammation that could mimic GERD; however that is outside of the scope of this discussion. Typically an invasive procedure requiring sedation such as endoscopy should be limited to patients with unusual presentations or those who are not responsive to more conservative tests and usual interventions and therapies.
There are no histologic findings to define Sandifer syndrome. If endoscopy/esophageal biopsies are done, they may confirm findings ranging from mucosal inflammation to erosive esophagitis that can be causative of Sandifer syndrome
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