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Sandifer Syndrome Workup

  • Author: Pegeen Eslami, MD; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Nov 11, 2015
 

Approach Considerations

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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Laboratory Studies

See the list below:

  • 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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Imaging Studies

 

See the list below:

  • 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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Other Tests

See the list below:

  • 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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Procedures

 

 

See the list below:

  • 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[12]  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. 
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Histologic Findings

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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Contributor Information and Disclosures
Author

Pegeen Eslami, MD Associate Professor of Pediatrics, Division of Pediatric Emergency Medicine, UMass Memorial Medical Center

Pegeen Eslami, MD is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, Massachusetts Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Raj D Sheth, MD Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine

Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, Child Neurology Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David A Piccoli, MD Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine

David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Jorge H Vargas, MD Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, University of California, Los Angeles, David Geffen School of Medicine; Consulting Physician, Department of Pediatrics, University of California at Los Angeles Health System

Jorge H Vargas, MD is a member of the following medical societies: American Liver Foundation, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

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Diagram illustrating the Nissen fundoplication. Note how the stomach is wrapped around the esophagus (360º wrap).
 
 
 
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