He Sandifer's Syndrome Is a disorder of the upper gastrointestinal tract that has neurological symptoms and usually appears in children and adolescents.
It mainly consists of esophageal reflux problems accompanied by dystonic movements and abnormal postures. It seems to have an important relationship in some cases with the intolerance to cow's milk protein.
Although sandifer syndrome was first described in 1964 by Kinsbourne, neurologist Paul Sandifer more fully delineated it; That is why it bears its name (Fejerman and Fernández, 2007).
It appears to be a complication of gastroesophageal reflux disease (GERD), a condition characterized by reflux of food from the stomach into the esophagus, causing damage to the lining of the esophagus.
It is characterized by sudden dystonic movements, with stiffness and arching mainly in the neck, back and upper extremities; As well as abnormal eye movements.
With dystonic we refer to continuous contractions of some muscles that cause crooked positions and non-voluntary repetitive movements that become painful. This is part of movement disorders, whose origin is neurological.
However, only 1% or less of children with GERD develop Sandifer syndrome. On the other hand, it is also frequently linked to the presence of hiatal hernia. The latter is a problem that a part of the stomach protrudes through the diaphragm and is manifested by chest pain, burning or discomfort when swallowing.
Abdominal discomfort is associated with abnormal body movements and contortions of the neck, such as torticollis with involuntary spasms, suggesting some authors suggest that certain positions adopted by those affected seem to have the goal of relieving the discomfort caused by stomach reflux.
Causes of Sandifer syndrome
The exact origin of this syndrome is unknown. The most common precipitating factor appears to be dysfunction in the lower esophagus, which causes reflux of ingested foods. Its cause may be, although not so frequent, the presence of gastroesophageal reflux disease (GERD) or Hiatus hernia .
It is believed that the strange postures of the head and neck and dystonic movements are due to a learned way of alleviating the pain that reflux problems give. Thus, the child after having made a movement by causality; Finds temporary relief from the discomfort associated with the disease, making it likely that such movements will recur.
Nalbantoglu, Metin, Nalbantoglu (2013) report the case of a patient who appears to have developed Sandifer's syndrome because of cow's milk allergy, indicating that the infant's protein intake may induce food allergies in infants Infants subsequently; Facilitating stomach reflux.
What are your symptoms?
The symptoms usually begin in infancy or early childhood, being more frequent on the 18-36 months of age, although its onset can extend until the adolescence.
Next, we will describe the most distinctive symptoms of Sandifer syndrome. It seems that these symptoms mainly occur during and after eating, and disappear as the child spends more time without eating food; As well as during sleep.
- Spasmodic torticollis: this is an involuntary contraction of the muscles of the neck involuntarily, making the head appear inclined. Repeated neck movements can be given continuously or simply stiffness. This is usually accompanied by pain.
- Dystonia: these are various movement disorders that give rise to involuntary contractions of muscles that can be repetitive.
- Important gastroesophageal reflux. If it is very serious, small ones can present irritations in the respiratory tract in addition to cough and wheezing (noise that makes the air when passing through the airways when these are harmed).
- Epigastric discomfort and vomiting (which may sometimes contain blood).
- They adopt strange postures with rigidity, of brief form and of paroxystic type, that is to say, movement disorders that appear of abrupt and intermittent form. They may look like convulsions, but they really are not; And they do not occur when the child sleeps.
- Associated with the above, you can see a sudden deviation of the head and neck to one side, while the legs extend towards the other. Normally the back arches after a hyperextension of the spine, while flexing the elbows.
- Spasms last between 1 and 3 minutes and can occur up to 10 times on the same day.
- Swing and rotation of the head.
- Gurgling of the stomach, which may be a sign of an altered digestion.
- Torque extremities movements.
- Appearance of discomfort, with frequent crying. Irritability and discomfort when changing posture.
- In some cases, you can give Severe hypotonia ; Which means that there is a low degree of muscle tone (ie, muscle contraction).
- Abnormal movements of the eyes that usually combine with movements of head, or extremities.
- Anemia: reduction of red blood cells in the blood, possibly due to the malfunction of the digestive system that does not absorb nutrients from food.
- The symptoms increase when consuming foods that contain cow's milk protein, since allergy to this substance seems to be the source of the disease in many cases.
- Low weight gain, especially if persistent or severe gastroesophageal reflux disease is present.
- Difficulties in sleep.
- They may be mentally disabled, being in this case closely related to the Spasticity (Ie, muscles that remain permanently contracted) and cerebral palsy. It is more common that all these symptoms appear when Sandifer syndrome occurs in an older child.
- If given in babies without mental impairment, everything in the medical examination may seem normal.
What prevalence does it have?
The incidence is unknown, but is estimated to be very rare. For example, only 40-65 cases of Sandifer syndrome have been reported in the literature.
Generally, its occurrence is in infancy or early childhood; Being the highest prevalence when we have less than 24 months.
It seems to affect the same between races and between both sexes.
What is your forecast?
Sandifer's syndrome appears to be benign. There is usually a good recovery from Sandifer syndrome, especially if it is treated in time. It can practically be said that it does not endanger life.
How can you diagnose?
Early diagnosis is essential. Parents often go to their pediatric neurologists with their affected son because they believe they are dealing with seizures. However, it is not so.
There are certain diagnostic clues that distinguish this syndrome from other conditions that are often confused, such as benign infantile spasms or epileptic seizures. For example, we may suspect Sandifer syndrome in a small one that presents the own movements of this disease, that disappear when it is asleep.
Another important element for the differential diagnosis is that spasms occur during or shortly after the child eats, reducing with a restriction of food intake.
The diagnosis will be definitive if the symptoms of gastroesophageal reflux are combined with typical movement disorders, whereas neurological examination is within the normal range.
A physical examination may show weight below normal or does not increase, malnutrition Or blood in the stool; Although on other occasions nothing strange is found. It is important that, in the presentation of several of the symptoms mentioned above, it is referred to pediatricians, neurologists and gastroenterologists.
To detect this syndrome or diagnose other possible disorders, you can use tests such as Cranial magnetic resonance And cervical, Electroencephalograms (EEG), cow's milk tolerance test, skin prick test, upper gastrointestinal endoscopy, esophageal biopsy, and esophageal Ph.
However, with presentations that are not very typical you have to be cautious because they can be misdiagnosed. In fact, it seems that this disorder is little and misdiagnosed, passing over cases.
More research is needed on the disease to delineate its origin and characteristics, and thus refine the diagnostic procedure.
What treatment do you have?
This syndrome is intervened in a way that reduces the effects of the underlying underlying disorder, as in the case of gastroesophageal reflux disease or hiatal hernia. This alleviates the symptoms of Sandifer syndrome.
As it appears to be strongly associated with cow's milk protein allergy, it has been shown to treat this allergy effectively to suppress the symptoms of Sandifer syndrome (Bamji, Berezin, Bostwick & Medow, 2015). It is especially recommended to eliminate this element of the diet to obtain good results (Nalbantoglu, Metin & Nalbantoglu, 2013).
Anti-reflux pharmacological therapy, such as Domperidone or Lansoprazole, is also helpful. The most used presently are the proton pump inhibitor drugs, which are responsible for decreasing the acid of the gastric juices.
If, despite following the medical indications, do not improve the symptoms you can opt for anti-reflux surgery. One of them consists of the fundoplication of Nissen, which serves to treat gastroesophageal reflux through a surgical intervention.
The operation is performed under anesthesia, and consists of folding the upper part of the stomach (called the gastric fundus) and narrowing the esophageal hiatus with sutures. In the case where you already have a hiatal hernia, it is repaired first.
There is also the fundoplication of Toupet, but this is more partial than that of Nissen; Surrounding the stomach 270º while that of Nissen is 360º.
Lehwald et al. (2007) describe the case of a child who recovered within 3 months of this disease (which was linked to GERD) thanks to medical treatment and Nissen funduplication surgery.
Here we can see a video of a baby showing characteristic symptoms of Sandifer syndrome:
References
- Bamji, N., Berezin, S., Bostwick, H., & Meadow, M. S. (2015). Treatment of Sandifer Syndrome with an Amino Acid-Based Formula. AJP Reports, 5 (1), e51-e52
- Eslami, P. (November 11, 2015). Sandifer Syndrome Clinical Presentation . Obtained from Medscape.
- Fejerman, N. and Fernández Álvarez, E. (2007). Pediatric neurology, 3 Ed. Madrid: Médica Panamericana.
- Lehwald, N., Krausch, M., Franke, C., Knoefel, W., Assmann, B. & Adam, R. (2007). Sandifer syndrome - A multidisciplinary diagnostic and therapeutic challenge. European Journal Of Pediatric Surgery, 17 ( 3), 203-206.
- Nalbantoglu, B., Metin, D. M., & Nalbantoglu, A. (2013). Sandifer's Syndrome: Misdiagnosed and Mysterious Disorder. Iranian Journal of Pediatrics , 2. 3 (6), 715-716.
- Nuysink, J., van Haastert, I., Takken, T., & Helders, P. (n.d). Symptomatic asymmetry in the first six months of life: differential diagnosis. European Journal Of Pediatrics, 167 (6), 613-619.
- Sandifer Syndrome . (S.f.). Retrieved on June 29, 2016, Living with reflux.