Vigabatrin is a GABA-transaminase inhibitor, this allows for increased GABA in the CNS. Gordon N. Sandifer's syndrome: investigations and treatment. Treatment of Sandifer syndrome with an amino-acid-based formula. Misdiagnosis as benign infantile spasms or epileptic seizures is common, particularly where clear signs or symptoms of gastro-oesophageal reflux are not apparent. 13. Sandifer syndrome a rare disorder that usually affects children up to the ages of 18 to 24 months. Sandifer's Syndrome appears and presents like epilepsy, or petit-mal in babies. Bruckheimer E, Goldberg M, Lernau O. Sandifer's syndrome reported and reviewed. [4] In rare cases, particularly where the child is severely mentally impaired, onset may extend to adolescence. GERD often causes chest pain and throat discomfort, and studies suggest that the movements associated with Sandifer syndrome are simply a childs response to pain or way of relieving discomfort. Providing the family with resources including fact sheets, forums, and treatment options can help family members with self-education to supplementthe education provided by a physician.[1]. Mandel H, Tirosh E, Berant M. Sandifer syndrome reconsidered. Infantile spasms last around one to two seconds in a series; whereas other types of seizures can last from 30 seconds to two minutes. . This happens because their body reacts to the stomach contents moving in the wrong direction up into their food pipe (esophagus). Vandenplas Y, Rudolph CD, Di Lorenzo C, et al. Efficacy of conservative therapy as taught in the primary care setting for symptoms suggesting infant gastroesophageal reflux. Treatment with dietary changes or medications helps reduce symptoms to help the condition go away faster. We report the case of a 5-month-old infant with no past medical history admitted to a pediatric unit for suspicion of infantile spasms. [4], Sandifer syndrome is not typically life-threatening[4] and the prognosis is typically good. Baram TZ, Mitchell WG, Tournay A, Snead OC, Hanson RA, Horton EJ. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Dysfunction of the lower esophagus with resultant acidic reflux is thought to be the most common precipitating factor, with the . It is a disorder that affects mostly those in the first year of life and is described as spasms with characteristic EEG changes known as hypsarrhythmia and a strong association with developmental delay or regression. Associated symptoms, such as epigastric discomfort, vomiting (which may involve blood) and abnormal eye movements have been reported. Effect of dystonic movements on oesophageal peristalsis in Sandifer's syndrome. Because of the complex nature of infantile spasms and the need for prompt diagnosis and initiation of treatment, strict interprofessional communication must occur. [31][32]Different dosing regimes have been cited, low vs high dose. Zhongshu Z, Weiming Y, Yukio F, Cheng-LNing Z, Zhixing W. Clinical analysis of West syndrome associated with phenylketonuria. This quick movement is similar to how you pull your hand away from a hot surface to avoid burning your hand. Specific features identified were a preponderance of acquired structural aetiology, male gender dominance, a long treatment lag, limited availability of adrenocorticotropic hormone . So if you notice possible symptoms, see your childs doctor. Infantile spasms: diagnosis and assessment of treatment response by video-EEG. This reinforces why it is important for clinicians to be aware of the signs of IS andthe diagnostic strategies and best practices; time is the prognosis for IS. Typically, Sandifers Syndrome is not life threatening. Those were the alternate 2 diagoses that my pediatrician gave me. It is considered that rapid identification and treatment of the spasms improves prognosis. 8. Its important that you see your babys provider when they start showing symptoms of Sandifer syndrome to prevent malnutrition and ease your babys discomfort. [3][4][5] Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted. Spasms may completely resolve and be replaced by other types of seizures. [28]At this time it is recommended that the ketogenic diet bean adjunct to ACTH or vigabatrin or cases refractory to treatment. This activity reviews the cause, presentation, and diagnosis of infantile spasms and highlights the role of the interprofessional team in its management. Sandifer Syndrome, which refers to dystonic posturing of the trunk and head, described as back arching, that can occur with severe gastroesophageal reflux, and is not a true seizure . to maintaining your privacy and will not share your personal information without MalaCards based summary: Sandifer Syndrome, also known as sandifer's syndrome, is related to gastroesophageal reflux and torticollis, and has symptoms including torticollis Affiliated tissues include eye and breast, and related phenotypes are gastroesophageal reflux and torticollis The first option your provider might recommend is thickening your babys diet by adding 1 teaspoon of rice cereal or other thickener per ounce of formula or breast milk (chest milk). When your baby quickly jerks their body or arches their back, theyre fighting the internal movement of the contents of their stomach and esophagus going in the wrong direction. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. [11][12], The last etiological associations with symptomatic IS are postnatal insults; these include traumatic injury, near drowning, tumors, and CNS infections withattributionof 15% to 67% of cases of symptomatic IS. ObjectiveThe limitations of adrenocorticotrophic hormone (ACTH) treatment for infantile spasms (ISs), such as high costs, limited availability, and adverse effects (AEs), make it necessary to explore whether corticosteroids are optimal alternatives. Direct observation of the patient is beneficial. Data is temporarily unavailable. These include: Premature birth; Lung conditions, such as cystic fibrosis Weakness and other neurological problems often begin 1 to 3 years after the seizures start. [35]Other alternative treatment are available for initial treatment of IS. Studies suggest that an underdeveloped connection between the food pipe (esophagus) and the stomach in infants allows the stomachs contents to flow back into the food pipe, which can lead to gastroesophageal reflux disease (GERD), but research is ongoing to learn more. He theorized that their discomfort was relieved by the contortions because the older children said the movements alleviated the symptoms. Dulac O, Soufflet C, Chiron C, Kaminska A. However, its almost always related to a problem with the lower esophagus, which leads into the stomach, or a hiatal hernia. Sandifer syndrome is a sudden-onset dystonia that can involve various body parts: the neck and head are most commonly affected. [4], The classical symptoms of the syndrome are spasmodic torticollis and dystonia. The condition can cause temporary muscle spasms as a reaction to acid reflux. Providers should be aware of Sandifer syndrome when evaluating a child with torticollis or unusual posturing that is not associated with neuromuscular disease or injury. (2013). Symptoms can resemble seizures, infantile spasms, infant torticollis, a muscular condition, and paroxysmal dystonia, a movement disorder that also sees attacks of abnormal posturing. We avoid using tertiary references. [1]Also, spasms typically occur in the waking state or the daytime. Lightdale JR, Gremse DA, et al. Secondary reflux is due to disease or a condition in the upper GI tract, such as idiopathic pyloric hypertrophy or esophagitis from cow's milk protein, or outside the GI tract, such as intracranial hypertension.9, GERD denotes the presence of damage from the increase in frequency and intensity of reflux.12 In infants and children, GERD can cause respiratory symptoms, failure to thrive, esophagitis, anemia, apparent life-threatening events such as apnea and choking, and paroxysmal nonepileptic events.1,7,9,12 Signs of GERD in infants and children can include irritability, feeding refusal, rumination, and fussiness.9. Bamji N, Berezin S, Bostwick H, Medow MS. Inborn Errors of Metabolism:Twenty-five metabolic disorders haveassociations with IS. Spasms usually stop as the infant gets older, but other seizure types often take their place. She presented Care coordination includes coordination between general pediatricians, pediatric neurologists, nurses, pharmacists, and therapists. Apraxia. PPIs do not seem to have the same tachyphylaxis profile as histamine2-receptor antagonists.17 However, persistent use may lead to overgrowth of bacteria in the GI tract and decreased absorption of calcium and vitamin B12.9 Omeprazole, lansoprazole, and esomeprazole are approved for children over age 1 year. You are not required to obtain permission to distribute this article, provided that you credit the author and journal. [13][15]Furthermore, as the name indicates, IS is defined by spasms that involve the muscles of the neck, trunk, and extremities; spasms may be flexor, extensor, or mixed flexor-extensor. West syndrome 1. [28]While a patient is receiving treatment clinicians should monitor blood pressure, serum glucose, potassium and sodium,screen forcushingoid featuresand be cognizant of any signs of infection.[1]. If antireflux measures are instituted, starting with lifestyle and feeding modifications, medication may not be necessary. Some of the symptoms of Sandifer syndrome can be hard to distinguish from a neurological problem, such as epilepsy. [13]ACTH is thought to work by suppression of corticotropin-releasing hormone that in animal models was found to be an endogenous neuropeptide that provoked convulsions. The first stage is noted to be relatively mild with infrequent and isolated spasms. Atrial Fibrillation and Stroke. Expensive and comprehensive neurologic examination may be unnecessary. Case studies verified that the posturing does not return once the GERD or hiatal hernia is successfully treated.8,15 If GERD is suspected or diagnosed, research recommends starting with the standard treatment approach for GERD in children, as outlined in the comprehensive guideline from the North American and European Societies of Pediatric Gastroenterology, Hepatology, and Nutrition.17, Lifestyle changes are the first step in treating GERD and Sandifer syndrome. Sandifer syndrome. Sandifer syndrome - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. An additional subgroup of cryptogenic proposed by the International League Against Epilepsy (ILAE)is known as idiopathic infantile spasm.[1][2]. Differentials should also include tonic reflex seizures of early infancy, brain injury, and severe myoclonic epilepsies. during or just after feeding and were associated with vomit- 24h oesophageal pH monitoring is the gold . Babies also might have slowed development or loss of skills (like babbling, sitting, or crawling). Infantile spasms usually start within the first year of life, between 4 and 8 months. Other conditions of the neck such as congenital abnormalities of the spine, injuries to the neck or spine, and inflammatory conditions can be excluded by examination.8, The dystonia of Sandifer syndrome mainly involves the head, neck, back, and upper trunk but not the limbs.9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm.6 Sandifer syndrome differs from epileptic events in that it lacks the rhythmic clonic component.4 Infrequently, epileptic events in infants will present solely as tonic posturing.10 Paroxysmal nonepileptic events commonly are encountered in infants and young children and a large portion of cases can be diagnosed on the basis of a careful history and physical examination.7 In patients whose presentation is not as clear, research has shown a simple video-EEG monitoring can clarify the diagnosis.7, In her review of nonepileptic events in children, Paolicchi cautions not to exclude Sandifer syndrome in patients with epilepsy.10 Children with hypotonia and neurologic impairment already are at risk for GERD, so the posturing associated with Sandifer syndrome is confounding, can be overlooked, and may be mistakenly attributed to their primary neurologic condition.11, Laboratory studies generally are not helpful in diagnosis but several case studies have reported the presence of chronic anemia that may be the result of nutritional problems, hematemesis, esophagitis, and mild chronic blood loss due to longstanding GERD.2,12, What makes Sandifer syndrome distinctive is the presence of GERD with or without a hiatal hernia.8 Gastroesophageal reflux is the involuntary passage of gastric contents into the esophagus. What age does Sandifer syndrome start? Your babys provider will diagnose Sandifer syndrome after taking a complete medical history and performing a physical exam to learn more about your childs symptoms. To monitor the effectiveness of treatment one most record the complete cessation of spasms with a repeat EEG that shows resolution of hypsarrhythmia. Not a Member? In cases that arerefractory to initial treatment with ACTH or vigabatrin, clinicians may consider initiation of a ketogenic diet. Last medically reviewed on November 20, 2017. Nalbantoğlu B, et al. [1]10% to 40% of patients with IS willbe classified as cryptogenic. Phenylketonuriais the most common inborn error of metabolism with etiological associations with IS in countries where PKUis not identified at birth; this accounts for 12% of patients with PKU. Thesecongenitalinfections include toxoplasmosis, syphilis, cytomegalovirus, andZikavirus. The authors have disclosed no potential conflicts of interest, financial or otherwise. The initial step, after a clinician has identified the clinical features of infantile spasms as above, is to perform electroencephalography (EEG). This tightens the lower esophagus, which prevents acid from coming up into the esophagus and causing pain. Tozzi E, Nabbout R, Dulac O, Chiron C. Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment. 10. Summarize the treatment of infantile spasms. [28]The alternate high dose regime consists of ACTH 75 units/m2 IM twice daily for 2 weeks; this is followed by a taper for an additional 2 weeks. Patients with idiopathic IS have normal development before the onset of symmetric spasms, a normal examination, normal neuroimaging, and hypsarrhythmic EEG pattern without focal epileptiform abnormalities.[2]. The imaging of choice, with the highest sensitivity, is MRI and should be the initial scanning method. It is a disorder that affects mostly those in the first year of life and is described as spasms with characteristic EEG changes known as hypsarrhythmia and a strong association with developmental delay or regression. A systematic review and meta . Gremse DA. Cerebral dysgenesis, lissencephaly,holoprosencephaly, andhemimegalencephalyaccount for theadditionalCNS malformations that can be associated withIS. This checks for any signs of stomach acid in the esophagus over 24 hours. Both of those things are outgrown without intervention. One theory in the pathophysiology of IS is that IS results from a nonspecific insult at a critical point in the ontogenetic development of the brain.[16]Another is that abnormalities in the hypothalamic-pituitary-adrenal axis, due to immunologic dysfunction or stress from variable causes in early development may contribute to the pathogenesis of IS; this theorywas developed from the responsiveness of IS to adrenocorticotropic hormone (ACTH) treatment as will be discussed later. Sandifer syndrome usually also goes away once this happens. [13], ACTH treatment does have side effects to include hypertension, immune suppression, infection, electrolyte imbalances, GI disturbances, ocular opacities, hypertrophic cardiomyopathy, cerebral atrophy and growth impairment.[35]Due to these side effects a low dose,short-termtherapy is recommended. Please try after some time. It is quite rare, only 1% of babies with Sandifer syndrome is a condition that causes your baby to have uncontrollable muscle spasms after they eat. Emergency medical physicians may also be part of care coordination as they will likely evaluate the patient initiallywhen the parents note spasms. The patients should also start the occupational, speech, and physical therapy due to the likelihood of developmental delays and regression. [1], All the above typically occurs through several stages:[1][24]. They should involve nursing in parent education and coordination of appointments and diagnostic imaging. It causes unusual movements in a childs neck and back that sometimes make it look like theyre having a seizure. This can help your childs doctor see if there are any patterns, which can make diagnosing Sandifer syndrome easier. Some infants diagnosed with Sandifer syndrome have an allergy to proteins in cows milk or certain types of formulas, which can make their symptoms worse. Prokinetic agents such as metoclopramide are not recommended because the benefits are outweighed by risks such as irritability, lethargy, extrapyramidal reactions, and permanent tardive dyskinesia.17 A study by Kabaku and Kurt showed that the addition of medication to the treatment regimen led to a dramatic decrease in posturing events.6 Agents such as histamine2-receptor antagonists and PPIs reduce the amount of acid secretion in the stomach. Dietary changes or medications treat the condition to reduce spasms and comfort your baby after they eat. One may also note changes in respiratory patterns. Advertising on our site helps support our mission. However, these symptoms are usually caused by severe acid reflux, or gastroesophageal reflux disease (GERD). Coming to a Cleveland Clinic location?Hillcrest Cancer Center check-in changesCole Eye entrance closingVisitation, mask requirements and COVID-19 information, Notice of Intelligent Business Solutions data eventLearn more. They look very much like a startle. Children diagnosed with Sandifers Syndrome will quite often grow out of it by 18-36mths, unless the child has severe mental impairment or similar conditions, in which case the child may continue to have spasms into adolescence. Lehwald N, Krausch M, Franke C, et al. When a clinician determines a nonepileptic event occurred, the upper GI tract should be evaluated. [Updated 2022 May 29]. To further evaluate the metabolic etiologies of IS one should obtain studies such as pyridoxine challenge, urine for organic acids, serum lactate and amino acids, biotinidase determination, cerebrospinal fluid (CSF) analysis of neurotransmitters, lactic acid, amino acids, folate metabolites, glucose and glycine, and lastly, chromosomal studies.[13]. Sandifer syndrome - a multidisciplinary diagnostic and therapeutic challenge. You may search for similar articles that contain these same keywords or you may More accurately, it is a response to severe pain caused by the presence of stomach acid in the oesophagus. Spasms most commonly occur in infancy. [27]In some cases of IS, there are diffuse structural brain diseases with no focal or lateralizing features on imaging studies that can be identified with positron emission tomography. Comorbid & Secondary Conditions Additional seizure types are seen in 30 to 50% of infants with this syndrome. Infantile spasm, sometimes known as West Syndrome, is a very rare form of childhood epilepsy. However, doctors could not pinpoint a diagnosis for this. At this time, no mucosal surface protective agents have been approved for use in children.1,17, Surgery may be necessary when optimized medical therapy is not effective.4 In Kinsbourne's pioneering 1962 report, the contortions were quickly and permanently resolved by operative correction of the hiatal hernia.5 Surgical correction with fundoplication shows near-complete relief of symptoms in 60% to 90% of children.4 Fundoplication surgery increases the length of the intra-abdominal portion of the esophagus, accentuates the angle of His, and corrects a hiatal hernia if present.17 This is a major procedure and is considered safe, but should be reserved for those who fail other therapies.16, In 1991, Bruckheimer and colleagues undertook a review of published cases of Sandifer syndrome, looking at the outcomes of treatment and reporting their own experiences treating patients with GERD and Sandifer syndrome.8 Their research revealed that 86% of patients without hiatal hernia responded to medication and lifestyle changes alone. Kramer U, Sue WC, Mikati MA. 20. Evidence-based guideline update: medical treatment of infantile spasms. Sandifer syndrome; gastroesophageal reflux disease (GERD); hiatal hernia; torticollis; paroxysmal nonepileptic events; pediatric. Bruckheimer and colleagues note the difficulty in convincing parents that their child will benefit from surgery without being able to explain how it will work, given the lack of personal experience and the rarity of the condition.8, Treatment for Sandifer syndrome focuses on resolving the underlying condition of GERD. Look up infant tremors and sandifer's syndrome. Watanabe K. West syndrome: etiological and prognostic aspects. Sandifer syndrome. Sandifer's syndrome is a dystonic movement disorder in infants with gastroesophageal reflux (GER). Sandifer syndrome may be seen with severe reflux, and it lacks the EEG findings of infantile spasms. Czinn SJ, Blanchard S. Gastroesophageal reflux disease in neonates and infants: when and how to treat. [28]It is recommended to repeat MRI imaging in six months if the initial MRI is normal and no other etiology is identified. In rare cases, your child may need a surgical procedure called Nissen fundoplication. In these situations, breastfeeding (chestfeeding) parents may have to change their diets or use a different formula as your babys provider recommends. Episodes of physiologic reflux usually are short and infrequent, may help decompress the stomach after meals, and should not cause long-term complications.9,12 Primary reflux is associated with a disorder of the lower esophageal sphincter; pressure causes the sphincter to relax and let gastric contents backflow into the esophagus. Frankel assumed a variant of neural anatomy or physiology in these patients and suggested a causal relationship between stimuli at the afferent neural pathway of the gastroesophageal junction and the efferent limb of the neck musculature.15 The diaphragm and muscles of the neck are supplied by the same motor nerve supply arising from C3 to C5. Once ACTH therapy is begun the time to effectiveness with a cessation of spasms was 7 to 12 days. 15. Children with infantile spasms typically exhibit epileptic spasms along with the electroencephalographic (EEG) pattern known as hypsarhythmia. The first line treatment for IS is hormonal therapy with corticotropin, ACTH. What are the reasons for the strikingly different approaches to the use of ACTH in infants with West syndrome? The last stage is characterized by a progressive decrease in spasm frequency and severity. Sandifer syndrome is commonly misdiagnosed as seizures or a neurological movement disorder. DOI: Lehwald N, et al. [1] Infantile spasms have been evaluated for over 170 years in regards to etiology, pathogenesis, clinical features, and diagnosis. Sometimes two EEGs may be needed. Irritability during feeding, wet burps or hiccups, abnormal arching, Two batches of Enfamil ProSobee infant formula have been voluntarily recalled due to possible contamination with a bacteria called Cronobacter, Researchers say a school-based physical activity program in Slovenia has helped ease childhood obesity, but not all experts agree with the findings, Experts say parents sometimes give children fever-reducing medication when it's not necessary, noting that higher temperatures are a way the body. West's syndrome is thus the archetypal infantile epileptic encephalopathy. This could take a few weeks to a month. Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features. Successful completion is defined as a cumulative score of at least 70% correct. Smith MS, Matthews R, Mukherji P. Infantile Spasms. Treating Sandifer syndrome involves trying to reduce symptoms of GERD. They typically resolve by the age of 5 years , although other seizures may take their place. Clinicians and family membersshould also establish medical and psychosocial treatment plans. Hence people reach a pediatric neurologist first, mistaking it to . But some things make it more likely that a baby will experience infant reflux. A particular cause will be found in 7 or 8 out of every 10 children with West syndrome. [23]Associated with the spasms include motor arrest, lasting up to 90 seconds, as well as rhythmic nystagmoid eye movements or eye deviation. This happens because your baby has acid reflux and moves their body in different ways to ease the discomfort that they feel. Research on Sandifer syndrome has debated whether the reflux causes the posturing or the posturing causes the reflux. This is followed by a less intense, longer tonic phase lasting 2 to 10 seconds. 16. Surgical outcomes for intractable epilepsy in children with epileptic spasms. 19. Ramgopal S, Shah A, Zarowski M, Vendrame M, Gregas M, Alexopoulos AV, Loddenkemper T, Kothare SV. Sandifer syndrome, an extraesophageal sign associated with gastroesophageal reflux disease (GERD), should be considered in the differential diagnosis of infants and children presenting with nonepileptic posturing and dystonic movements. [4], Onset is usually confined to infancy and early childhood,[2] with peak prevalence at 1836 months. History & Examination Shields WD, Shewmon DA, Chugani HT, Peacock WJ. Like theyre having a seizure where clear signs or symptoms of the spasms improves prognosis he theorized that their was. 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