Overview:
Sandifer syndrome is a rare condition affecting infants and children up to the age of two years (24 months). The condition is named after neurologist Paul Sandifer and is underrecognized. There is an abnormal movement of the head, neck, and back of the child that resembles seizures. Hence, people first contact a pediatric neurologist, mistaking it for a seizure. Due to its atypical presentation, the condition is usually diagnosed with delay. A word of relief is that Sandifer syndrome has a good prognosis and resolves as the child turns two.
What Is Sandifer Syndrome?
In Sandifer syndrome, the affected child presents with abnormal and unusual spasms or movements of the head, neck, and back, which are associated with gastroesophageal reflux (GERD), esophagitis (inflammation of the food pipe), and hiatus hernia. Torticollis (tilted and twisted neck) and dystonia (repetitive twisting movements) are present.
The presentation of the syndrome mimics several other conditions that subject the affected child to numerous unwanted, unnecessary, expensive, and lengthy investigations. The diagnosis gets delayed in this process, and there are chances for misdiagnosis. If misdiagnosed, treatment for a wrong condition will be started. Hence, diagnosis by the clinician remains imperative. However, a prompt and exact diagnosis of the condition can resolve it quickly and with ease.
What Causes Sandifer Syndrome?
The backward flow of the stomach’s contents through the esophagus multiple times a day is usual in healthy infants.
This is due to factors such as;
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Liquid diet.
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Lying down in the position of babies.
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Immature gastroesophageal junction.
But when this reflux becomes so frequent and severe that it begins to erode the esophageal mucosa, it becomes a pathology. Though why GERD causes such unusual bodily movements is unclear, it is thought that the diaphragm, head, and neck have a common innervation (nerve supply), resulting in such unusual movements with reflux episodes. GERD in children can be either primary or secondary.
The primary cause includes lower esophageal sphincter disorder in the child. Secondary GERD is due to any upper gastrointestinal tract condition or disease such as idiopathic pyloric hypertrophy, inflammation of the esophagus due to cow’s milk protein allergy (CMPA), intracranial hypertension, etc.
What Signs and Symptoms Do Children With Sandifer Syndrome Exhibit?
Affected children have the following symptoms,
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Paroxysmal spasms of the head and neck.
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Baby arching neck backward.
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Abnormal posturing (soon after being fed).
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The affected child is fussy, irritable, cries, gags, and vomits during and after feeding sessions.
These abnormal posturing and back and arching neck backward movements are thought to relieve the Sandifer syndrome child from GERD and improve esophageal motility. These movements do not occur while the child is asleep. The episodes are short and brief, lasting for a minute or two, and recur up to 10 times daily, usually after feeding.
The signs of baby reflux during the night are
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The baby falls sick immediately after feeding.
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Hiccups or cough during feeding.
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Staying unsettled during feeding time.
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The baby cries and does not settle.
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Swallowing after burping or being fed.
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The baby not gaining weight.
What Complications Are Caused By Untreated Sandifer Syndrome?
If left untreated, Sandifer syndrome can lead to,
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Failure to thrive.
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Weight loss.
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Teeth erosion.
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Apnea.
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Recurrent pneumonia.
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Wheezing.
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Stridor (a high-pitched whistling sound during inhalation).
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Brief resolved unexplained event (BRUE).
What Investigations Confirm Sandifer Syndrome?
Usually, no investigatory tests are required to diagnose the condition. The condition is generally mistaken for a neuromuscular or neuropsychiatric disease. Diagnosis means eliminating the possibility of epilepsy and other conditions based on the symptoms reported by the parents.
The physician does a clinical examination, excluding congenital abnormalities of the spine, neck or spine injuries, and inflammatory conditions.
The child will be referred to a gastroenterologist for continuous esophageal pH monitoring if needed. The presence of iron deficiency anemia in complicated cases can be diagnosed with a complete blood examination. Electroencephalography (EEG) might be needed to confirm the presence or absence of seizure disorders.
What Are the Differential Diagnoses of Sandifer Syndrome?
If the condition is not Sandifer syndrome, other conditions that closely mimic similar clinical features would be,
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Epilepsy.
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Infantile spasms.
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Paroxysmal dystonia.
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Pediatric GERD.
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Neurological movement disorder.
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Infant torticollis.
The physician’s role is crucial in diagnosing Sandifer syndrome, as the condition is mostly misdiagnosed, which subjects the infant to unnecessary investigatory procedures with unwanted side effects, along with emotional and financial loss to the family. This also deprives the baby of its appropriate treatment.
What Management Strategies Help Treat Sandifer Syndrome?
The condition usually resolves on its own within two years of age. Both non-pharmacological and pharmacological approaches to treating Sandifer syndrome are available. Usual GERD treatment should resolve Sandifer syndrome.
Non-Pharmacological Methods -
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One teaspoon to one tablespoon of rice cereal per ounce can be added to the expressed breast milk or formula milk to feed the infant.
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Overfeeding the infant must be avoided.
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Less milk with more frequent feedings is better than large volumes with fewer frequent feedings.
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The infant should be kept in an upright position after every feed.
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Paced bottle-feeding is encouraged to prevent overfeeding and associated GERD.
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If the infant is suspected to be allergic to cow’s milk protein, it should be replaced with more elemental formula milk.
Pharmacological Methods -
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GERD treatment will be started if the above methods do not lend a hand.
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Anti-reflux medications will be given, such as proton pump inhibitors and H2 blockers.
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Antacids and prokinetic agents will also be prescribed (not in infants).
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In most cases, the condition resolves, and the child’s health status improves. Even after medications, if the condition fails to resolve, surgical management of a possible hiatal hernia will be the next step of management.
Does Sandifer Syndrome Go Away?
Usually, this syndrome resolves with the GERD management method. If the baby is putting on weight and developing healthily, then non-pharmacological methods should be considered before pharmacological intervention.
Conclusion
The little one's abnormal head and body movements must be disturbing to the new parents out there. Although rare, the possibility of Sandifer syndrome in infants and children up to two should be considered. Awareness of the condition can let the parents discuss with their clinicians the clinical presentation of their child with more clarity, eliminating the need for unnecessary investigatory procedures at an early stage of life.
