What is Sandifer Syndrome?
Sandifer syndrome (SS) is a kind of motion disorder that typically causes sudden spasms or sudden, jerky movements of the head, neck, and back. Interestingly, this condition doesn’t affect the arms or legs. It’s commonly seen in children who also suffer from gastroesophageal reflux (GERD), a condition where stomach acid frequently flows back into the tube connecting the mouth and stomach. This makes it critical for parents to understand that sometimes, due to the unusual postures and movements associated with SS, it might be mistakenly interpreted as seizures.
This misunderstanding often leads to unnecessary worry among parents and doctors and may result in needless referrals to pediatric neurologists for treatments. Consequently, expensive diagnostic tests like an MRI (an imaging test that uses powerful magnets and radio waves to create pictures of the inside of the body) or an EEG (a test that detects electrical activity in your brain) might be conducted. Also, medications intended to prevent seizures may be prescribed inappropriately.
An interesting study done by Kotagal et al. revealed that about 16% of patients who were diagnosed with an epilepsy disorder actually had GERD as the root cause. On average, it took about a year for these patients to receive a correct diagnosis, and during this time they were treated unnecessarily. This underscores the importance for doctors to consider Sandifer syndrome when a child presents with unusual and sudden movements and postures but not having any seizures.
Having a correct and early diagnosis of Sandifer syndrome can lead to a complete resolution of the symptoms, i.e., once the condition is correctly identified and treated, symptoms often disappear entirely.
What Causes Sandifer Syndrome?
In most healthy babies, food sometimes moves backwards from the stomach into the food pipe, which is a normal process that happens several times a day. This is mostly due to the baby’s liquid diet, lying down position, and the food pipe’s connection to the stomach not being fully developed. However, this can become an issue when it is severe and starts to damage the lining of the food pipe. In these cases, babies might seem uncomfortable, especially if they appear to be unusually fussy or show unusual body postures.
The exact cause of the unusual body movements seen in Sandifer syndrome, a severe form of this food moving backwards, is still not known. It’s possible that it has to do with the shared nerve control between the muscle that separates the chest and the stomach, and the head and neck areas. A researcher named Frankel was able to show a direct relationship between these unusual movements and low acid levels. He monitored the acid levels in a patient with Sandifer syndrome, noting 83 instances of peculiar posturing. Interestingly, none of these episodes occurred during times when the acid level was above a certain threshold for 30 seconds or more.
Risk Factors and Frequency for Sandifer Syndrome
Sandifer syndrome is a condition that’s not fully understood yet. This means the exact numbers of people affected aren’t known because it hasn’t been thoroughly studied. What we do know is that around 7% of babies show signs of a related condition called GERD, which stands for Gastroesophageal Reflux Disease, that causes symptoms such as spitting up. Out of these babies, 1% may show linked muscle movement problems, a symptom unique to Sandifer Syndrome.
Understanding GERD is vital to understanding Sandifer Syndrome because if GERD gets better, the muscle movement problems that are a part of Sandifer Syndrome also get better. Most babies will have symptoms of GERD when they are around 4 months old. The good news is that the symptoms get significantly better in about 80% of babies within their first month and in almost 90% of them by the time they turn one
While we don’t know for sure whether Sandifer Syndrome affects boys or girls more, there have been more published cases about boys having the syndrome than girls.
Signs and Symptoms of Sandifer Syndrome
Sandifer syndrome is a rare presentation of GERD, a condition that causes stomach acid to flow back into the esophagus. People with this syndrome may show abnormal postures like torticollis (abnormal twisting of the neck) especially after eating and these symptoms tend to improve between feeds. Parents of children with this syndrome may notice the torticollis switching from one side of the neck to another when feeding. It’s important to note the neck muscle, called the sternocleidomastoid, seems normal in these cases and the torticollis won’t get better with physical therapy. This can be misleading as these symptoms can be mistaken for seizures. However, during these episodes, patients remain fully conscious and the symptoms don’t appear during sleep.
The neurological examination for these patients is typically normal, making Sandifer syndrome a more likely diagnosis than epilepsy.
People with Sandifer syndrome often show additional symptoms such as excessive crying, fussiness, irritability, vomiting, choking during and after feeding.
- Excessive crying
- Fussiness
- Irritability
- Vomiting
- Gagging or choking during and after feeding
If these symptoms are left unattended, they can lead to further complications like anemia, weight loss, failure to thrive, and dental erosion. Doctors should stay vigilant for complications of GERD, such as apnea, recurrent pneumonia, chronic stridor, or wheezing.
Testing for Sandifer Syndrome
Usually, lab tests aren’t necessary to diagnose this syndrome. If a doctor’s examination and reports of symptoms from parents don’t point to epilepsy, doctors usually try treatments that don’t involve medication first, and then introduce medication treatments if necessary. If these treatments help improve the symptoms, then there’s no need for further tests. If the treatments aren’t helping, then a doctor might refer you to a gastrointestinal specialist, who might use some advanced tests for further evaluation, such as continuous esophageal pH monitoring.
If it’s not clear that the condition is, in fact, Sandifer syndrome based on symptoms and examination, the doctor might use other diagnostic tools, like EEG, a test that records the electrical activity of your brain. This can help to rule out seizure disorders. Other possible causes that the doctor might consider include metabolic conditions, infections, and congenital neuromuscular problems.
As a part of the management of Sandifer syndrome, doctors will also check for iron deficiency anemia with a complete blood count (CBC) and iron studies. If there’s a possibility of a hiatal hernia, a condition where part of your stomach pushes up into your chest, the doctor might refer you to a surgeon for further assessment.
Treatment Options for Sandifer Syndrome
Sandifer syndrome, a rare condition associated with gastroesophageal reflux disease (GERD), tends to improve when we manage the GERD. There are two ways in treating Sandifer syndrome: non-drug interventions and drug-based treatments. If the baby is growing and developing well, doctors first try non-drug approaches before considering medications.
One of the non-drug strategies includes thickening the baby’s formula or breast milk with a bit of rice cereal. However, it’s important not to overfeed the baby, and to reduce the amount of milk at each feeding if necessary. It’s also advisable to give the baby some time to rest between feedings, and to keep them upright after each feed. This can help stop GERD from happening. Also, some babies might need to switch to a different, more basic kind of milk, as about one third of babies with GERD may also have an allergic reaction to cow’s milk, that could be causing inflammation of the esophagus and contributing to their symptoms.
If these non-drug strategies do not improve the baby’s GERD and, as a result, their Sandifer syndrome, medication could be the next approach. There are drugs available that can help reduce the reflux. In most situations, once the GERD is under control, the Sandifer syndrome also sees significant improvement. The episodes become less frequent over time and any related anemia also improves.
If all these approaches do not work, one possible consideration for treatment could be surgery for a possible hiatal hernia, which can cause GERD. This would only be considered if all other non-drug and drug treatments have not been effective.
What else can Sandifer Syndrome be?
When diagnosing Sandifer syndrome, which can cause sudden, uncontrolled movements in infants, doctors need to consider all possible causes. These can include:
- Certain types of epilepsy
- Birth-related muscle conditions such as congenital muscular torticollis
- Metabolic and genetic conditions present from birth
- Problems with the brain and nervous system, known as CNS pathologies
- Injuries or traumas
- Inflammation or infections in the neck and head
What to expect with Sandifer Syndrome
The future outlook for babies with Sandifer syndrome, once it’s linked to GERD (Gastroesophageal Reflux Disease) – a type of condition where stomach acid flows back into the esophagus, is very good. Timely and proper treatment of GERD can reduce the episodes of abnormal muscle tension or spasms (known as dystonic episodes). With time, most patients fully recover from this condition.
In addition, a type of blood disorder known as iron deficiency anemia, usually gets better after three months of successful GERD treatment. According to the research materials used for this article, there were no reported long-term complications or morbidity (a term for the rate of disease) associated with Sandifer syndrome.
Possible Complications When Diagnosed with Sandifer Syndrome
Sandifer syndrome doesn’t have any complications, but if it isn’t properly identified early on, it can mistakenly be diagnosed as a neurological disorder. This misdiagnosis can lead to unnecessary treatment with antiepileptic medications. Even though these medications are typically well-tolerated, they may cause unwanted side effects and can cause distress for the parents. Patients may undergo incorrect treatment for extended periods until the correct diagnosis of GERD (Gastroesophageal Reflux Disease) is made.
- Potential misdiagnosis as a neurological disorder
- Unnecessary antiepileptic medication use
- Unwanted side effects from unnecessary medication
- Distress experienced by parents
- Prolonged periods of incorrect treatment
