So if you notice possible symptoms, see your childs doctor. 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]. Sandifer syndrome is a syndrome characterized by paroxysmal dystonic posturing with opisthotonus and unusual twisting of the head and neck (resembling torticollis) Figure 2. Infant reflux: Overview. The positioning is intermittent, changes sides, and the sternocleidomastoid is normal with absence of spasm. Infantile spasms (IS), also known as West syndrome, are a rare form of epilepsy that typically occur in babies under the age of 1 year. Symptoms are most common after your baby eats when the contents of their stomach dont settle. Symptoms can resemble seizures, infantile spasms, infant torticollis, a muscular condition, and paroxysmal dystonia, a movement disorder that also sees attacks of abnormal posturing. To monitor the effectiveness of treatment one most record the complete cessation of spasms with a repeat EEG that shows resolution of hypsarrhythmia. Though prenatal factors account for the greatest proportion of cases of symptomatic IS, perinatal causes of IS to includehypoxic-ischemicencephalopathy and neonatal hypoglycemia also have etiologic associations with IS. 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. Visit your babys healthcare provider if they: It can be upsetting to see your baby have muscle spasms or not eat regularly because of reflux. Except that babies with Sandifer's have reflux and the movements are not neurological but all to do with the sensations experienced with their reflux. The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet. At this time therehas been no association found between IS and prematurity. If after thorough metabolic evaluation as well as the epilepsy gene panel no apparent cause of IS is identified then whole-exome sequencing should be considered. 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. If the EEG doesnt show anything unusual, the doctor might do a pH probe by inserting a small tube down your childs esophagus. 2003 Jun-Jul;55(1-2):21-7. doi: 10.1016 . Dulac O, Chiron C, Robain O, Plouin P, Jambaque I, Pinard JM. [27], After an EEG shows findings suggestive of IS, neuroimaging is the next diagnostic test that should be pursued. 6. Sandifer syndrome - a multidisciplinary diagnostic and therapeutic challenge. They also improve gastric emptying and reduce reflux volume. Addy was diagnosed with Sandifer's after ruling out Infantile Spasms. 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. 2. Some studiesdetermine a slightly higher rate of males compared to females being affected with a ratio of 60:40. In this situation, nursing mothers should be advised to discontinue cow's milk from their diet.3, If patients need medication in addition to the previously mentioned treatments, the most commonly prescribed drugs are antisecretory agents, gastric acid buffers, and mucosal surface barriers. 4 There are a few reports in adults. Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Symptoms The most common symptom of infantile spasms is stiffening of the body. Cleveland Clinic is a non-profit academic medical center. Paolicchi JM. Infantile spasms need to be treated as quickly as possible. Baram TZ, Mitchell WG, Brunson K, Haden E. Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. [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. 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. Satoh J, Mizutani T, Morimatsu Y. Neuropathology of the brainstem in age-dependent epileptic encephalopathy--especially of cases with infantile spasms. ORPHA:71272 Classification level: Disorder Synonym (s): - Prevalence: Unknown Inheritance: Not applicable Age of onset: Childhood, Infancy, Adult ICD-10: G24.8 OMIM: - UMLS: C0338465 MeSH: C537234 Dysfunction of the lower esophagus with resultant acidic reflux is thought to be the most common precipitating factor, with the . 9500 Euclid Avenue, Cleveland, Ohio 44195 |, Important Updates + Notice of Vendor Data Event. Cleveland Clinic Children's is dedicated to the medical, surgical and rehabilitative care of infants, children and adolescents. Sometimes two EEGs may be needed. Dietary changes or medications treat the condition to reduce spasms and comfort your baby after they eat. These nerves also supply the muscles of the head and neck such as the trapezius, scalene, and sternocleidomastoid. In the infant reflux world we consider it to be reflux taken to the next level, a neurological one. Additional symptoms that can happen as a result of Sandifer syndrome include: The exact cause of Sandifer syndrome is unknown. [29][30]The above is a theory that will need further investigation to the exact mechanism of action of ACTH. Sandifer syndrome is commonly misdiagnosed as seizures or a neurological movement disorder. 9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm. Diurnal and sleep/wake patterns of epileptic spasms in different age groups. Sandifer Syndrome: a continuing problem of misdiagnosis These findings suggest that infants or children with these atypical movements should be evaluated for Sandifer Syndrome. Epilepsy Res. - Spasms last between 1 and 3 minutes and can occur up to 10 times on the same day. We ended up in the ER and she was admitted for EEG testing to rule out Infantile Spasms (EEG results were normal). Infantile spasms are an age-specific epileptic disorder of infancy and early childhood. Review. Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F. West syndrome associated with 14q12 duplications harboring FOXG1. They should not be allowed to sleep in the prone position due to known increased risk of sudden infant death syndrome (SIDS).9,18 Elevated or supine positioning such as propping in an infant carrier provided no benefit.17, A small retrospective case review of infants with persistent Sandifer syndrome despite aggressive medical therapy found that patients responded when switched to an amino-acid-based formula.3 This may indicate an allergy to cow's milk protein which is associated with eosinophilic esophagitis and GERD. Treatment of infantile spasms: medical or surgical? However, its almost always related to a problem with the lower esophagus, which leads into the stomach, or a hiatal hernia. Not a Member? While its symptomswhich can include sudden jerking movements resembling a seizuremay be alarming at first, it is thankfully something that can be managed with proper treatment and care. Furthermore, when the hiatal hernia and acid reflux were surgically corrected, the posturing stopped.5, Fewer than 1% of children with GERD also have Sandifer syndrome (Figure 1).4 Researchers theorize that many patients with the syndrome may not be recognized because it is mistaken for a neuromuscular or neuropsychiatric disease.4 Many of these children get extensive unnecessary neurologic evaluations and treatments.4,6 Sandifer syndrome is thought to be an underreported condition in literature but is believed to be seen frequently in the pediatric neurology and gastroenterology settings.4, Kotagal and colleagues reviewed 6 years of data from the Cleveland Clinic's pediatric epilepsy monitoring unit to determine the frequency and source of paroxysmal nonepileptic events.7 They found that in children ages 2 months to 5 years being evaluated for paroxysmal nonepileptic events, 16% had GERD as the underlying diagnosis.7, History and clinical observation are fundamental in identifying Sandifer syndrome as part of the atypical presentation of GERD.6 Typically the infant may exhibit irritability, crying, eye deviation with head version, torticollis that may change sides, extensor spasm, dystonic posture (Figure 2), and rumination (rechewing of regurgitated food product).2,6, Torticollis associated with Sandifer syndrome is unique. Please try again soon. 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. Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Its also important to burp your baby during and right after feeding to bring up any air they may have swallowed. Differentials should also include tonic reflex seizures of early infancy, brain injury, and severe myoclonic epilepsies. [28]It has been thoroughly demonstrated that cryptogenic IS has a better prognosis than symptomatic IS. The spectrum of nonepileptic events in children. Sandifer syndrome: A continuing problem of misdiagnosis. Esomeprazole has been approved for the treatment of esophagitis and GERD in infants ages 1 month to 1 year. Finding a definitive pathophysiologic or anatomic link could improve the timeliness of diagnosis and treatment, sparing patients and families extensive, costly, and potentially unnecessary testing and treatment. [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]. Weakness and other neurological problems often begin 1 to 3 years after the seizures start. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. It is considered that rapid identification and treatment of the spasms improves prognosis. Frankel EA, Shalaby TM, Orenstein SR. Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. Zhongshu Z, Weiming Y, Yukio F, Cheng-LNing Z, Zhixing W. Clinical analysis of West syndrome associated with phenylketonuria. Sandifer syndrome is a rare gastroesophageal condition experienced by infants and young children. Early diagnosis permits prompt treatment and relief of the problem. [13]Despite the above treatment regimens there are still questions and further research being pursued regarding the mechanism, optimal drug, dose, duration of therapy, and importance of prompt initiation of treatment. Its important that you see your babys provider when they start showing symptoms of Sandifer syndrome to prevent malnutrition and ease your babys discomfort. A 6-month-old boy with uncontrollable dystonic posture of the neck. Treatment of Sandifer syndrome with an amino-acid-based formula. 5,6 Patients may present with episodes of torticollis, 7,8 laterocollis, 9 or retrocollis. An additional subgroup of cryptogenic proposed by the International League Against Epilepsy (ILAE)is known as idiopathic infantile spasm.[1][2]. This syndrome was first mentioned more than 50 years ago with minimal documentation in the medical literature. Low birth weight is another factor that is 3 to 4 times more prominent inchildrenwith IS than that of the general population. Describe the presentation of a patient with infantile spasms. Puntis JW, Smith HL, Buick RG, Booth IW. Arachnoiditis. 13. Mackay MT, Weiss SK, Adams-Webber T, Ashwal S, Stephens D, Ballaban-Gill K, Baram TZ, Duchowny M, Hirtz D, Pellock JM, Shields WD, Shinnar S, Wyllie E, Snead OC., American Academy of Neurology. Children with infantile spasms typically exhibit epileptic spasms along with the electroencephalographic (EEG) pattern known as hypsarhythmia. [22]As visual observation alone cannot distinguish between the above, IS cliniciansmust consider infantile spasms when consideringwhat might be normal infant behavior. The important features and the importance of early diagnosis and treatment are discussed below. 1. This happens because their body reacts to the stomach contents moving in the wrong direction up into their food pipe (esophagus). [25][26]The characteristic EEG finding to diagnose IS is a pattern known as hypsarrhythmia. These include: Premature birth; Lung conditions, such as cystic fibrosis Inborn Errors of Metabolism:Twenty-five metabolic disorders haveassociations with IS. Hayk S Arakelyan. Healthline Media does not provide medical advice, diagnosis, or treatment. The spasms typically occur in 2 phases; the initial phase is sudden in onset, lasting less than 2 seconds, with brief contractions of 1 or more muscle groups. How much and how often should I feed my baby? Infantile spasms (IS) is a seizure disorder in babies. Each premiseissupported by autopsy studies as well as neuroimaging, EEG findings, and neurotransmitter abnormalities. [1] Infantile spasms have been evaluated for over 170 years in regards to etiology, pathogenesis, clinical features, and diagnosis. An alternative initial treatment for IS after consideration of ACTH is vigabatrin. Infants often experience acid reflux and gastroesophageal reflux disease (GERD). Your message has been successfully sent to your colleague. The classical symptoms of the syndrome are spasmodic torticollis and dystonia. Risk factors. [2], Sandifer syndrome was first described in 1964 by Austrian neurologist Marcel Kinsbourne in The Lancet. Bedside to bench. West's syndrome is thus the archetypal infantile epileptic encephalopathy. Oncethe emergency department physician has suspicion for IS, apediatricneurologist and the patient's general pediatrician shouldbe contacted to evaluate the patient and begin diagnostic measures. During treatment, your babys provider will monitor how they respond to dietary changes or medications to make sure your child is healthy and thriving. Youll most likely see symptoms of Sandifer syndrome in your baby after they eat. Get new journal Tables of Contents sent right to your email inbox, www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-gastroesophageal-reflux-disease-in-children-and-adolescents, Articles in PubMed by Debora M. Moore, MPAS, PA-C, Articles in Google Scholar by Debora M. Moore, MPAS, PA-C, Other articles in this journal by Debora M. Moore, MPAS, PA-C, Plantar fasciitis: A review of treatments, Physician assistant postgraduate education, Hyperkalemia and potential pitfalls of sodium polystyrene sulfonate, The changing physician assistant profession: A gender shift, Privacy Policy (Updated December 15, 2022). This activity reviews the cause, presentation, and diagnosis of infantile spasms and highlights the role of the interprofessional team in its management. Spasms may completely resolve and be replaced by other types of seizures. It's a rarely seen consequence of GERD. American Academy of Neurology. Specific features identified were a preponderance of acquired structural aetiology, male gender dominance, a long treatment lag, limited availability of adrenocorticotropic hormone . 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. 16. Once adiagnosis is made, a pharmacist can assist in medicine distribution and dosing, as well as parent education, on medication side effects. Those were the alternate 2 diagoses that my pediatrician gave me. 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. During the seizure the child often has: The mild stage then progresses to a more severe stage with an increase in frequency and clustering of spasms. Neurological examination is usually normal. The original case actually described his own son, James Edwin West (1840-1860). [28]At this time it is recommended that the ketogenic diet bean adjunct to ACTH or vigabatrin or cases refractory to treatment. Sandifer syndrome. Infantile spasmscan be classified into two, well-known groupings of symptomatic and cryptogenic. (2013). The spasms are tiny seizures that can have a big impact on a baby's development. The Centers for Disease Control and Prevention has released updated recommendations on its childhood vaccination schedule. It causes unusual movements in a child's neck and back that sometimes make it look like. You can learn more about how we ensure our content is accurate and current by reading our. Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. [1], As noted above, ISis classified as symptomatic when there is an identifiable cause in addition to developmental delay present prior tothe onset of spasms. [41]Further testing must be performed if clinical suspicion is high for IS. The crucial first step is to obtain a detailed history and description of events. With continued research regarding infantile spasm and its etiologies, pathogenesis, diagnosis, and treatment the overall prognosis of IS is poor. In rare cases, your child may need a surgical procedure called Nissen fundoplication. There is a peculiar epidemiological profile of IESS in South Asia. Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M. Prenatal etiologies of West syndrome. This syndrome is more common in infants and children who have GERD or hiatal hernias. In many cases, you may just need to make some changes in feeding habits. - Gurgling of the stomach, which may be a sign of an altered digestion. Infantile spasms were described first by West in 1841 [ 1 ]. [35]Other alternative treatment are available for initial treatment of IS. [Updated 2022 May 29]. Ranitidine, cimetidine, famotidine, and nizatidine have been commonly used but their biggest reported drawback is tachyphylaxis.1 Although histamine2-receptor antagonists are widely used, a systematic literature review of efficacy and safety showed little evidence to justify their use and recommended they be used with caution.21, PPIs inhibit acid secretion by blocking the H+K+ATPase pump in the gastric parietal cell, keeping gastric pH above 4 for longer periods of time, and inhibiting meal-induced acid dump. The spine can arch, bending your head toward your feet & twisting your neck to one side. Dystonia is a name for writhing and twisting motions due to uncontrollable muscle contractions. Feed your baby small meals more often throughout the day. Surgical outcomes for intractable epilepsy in children with epileptic spasms. Sandifer syndrome is uncommon and clinically presents with a sudden onset of transient, spasmodic torsional dystonia with arching of the back and opisthotonic posturing (positioning of the head and heels backward and the spine arching forward, with intermittent torticollis) in patients with GERD or hiatal hernia.1,2 The movements associated with this disorder are disturbing to parents and can perplex clinicians because the presentation can mimic seizures.3 However, prompt recognition and treatment will quickly resolve the disorder. Bruckheimer E, Goldberg M, Lernau O. Sandifer's syndrome reported and reviewed. He told us the symptoms goes away when the reflux is under control (medication) or gets better when the child is older (because of more standing up positions). Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents. Symptoms of infantile spasms The condition can cause temporary muscle spasms as a reaction to acid reflux. Genetic and Rare Diseases Information Center. Sandifer Syndrome. They look very much like a startle. There are two ways to do that: dietary changes or taking medications. [1]Recently the ILAE has proposed an additional group to differentiatea subset of cryptogenic IS based on the presence or absence of developmental delay prior to the onset of symptoms,whichis identified as idiopathic. Infantile spasms (IS) are a type of seizure, and are the most common severe epilepsy in infants IS are typically sudden, brief, bilateral and symmetric contraction of the muscles of the neck, trunk and extremities, occurring in clusters IS are often the presenting feature of a significant underlying neurological disorder First reported in the early 1960s, the syndrome is named after the neurologist Paul Sandifer, whose case series consisted of five children with neck contortions that were more pronounced after eating.4,5 The movements were not consistent with any known neurologic condition at the time. Genetic Mutations: In addition tochromosomal abnormalities genetic mutations such as those encoding the forkhead protein G1,syntaxin-binding protein 1, calcium/calmodulin-dependent serine protein kinase, ALG13, pyridoxamine-5-phosphate oxidase, andadenylosuccinatelyase havebeen identifiedtobe associatedwith IS. [1]Infantile spasms have been evaluatedfor over 170 yearsin regards to etiology, pathogenesis, clinical features, and diagnosis. GERD frequently is diagnosed by its signs, symptoms, and physical examination.1 Initiating empiric treatment can be a simple and cost-effective means of confirming the condition.13 Upper GI and scintigraphy studies may help evaluate for anatomical abnormalities such as hiatal hernia but are not recommended as first-line studies for GERD.9 A full discussion of diagnosing GERD is beyond the scope of this article. This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) 21. van der Pol R, Langendam M, Benninga M, et al. Cafarotti A, Bascietto C, Salvatore R, et al. Sandifer syndrome may be seen with severe reflux, and it lacks the EEG findings of infantile spasms. West syndrome affects infants and children. Treating Sandifer syndrome involves trying to reduce symptoms of GERD. This is associated with developmental regression. The classical symptoms of the syndrome are spasmodic torticollis and dystonia [23]. Hrachovy RA, Frost JD, Kellaway P, Zion TE. Occurring in association with gastro-oesophageal reflux, and we update our articles when new information becomes available include! 26 ] the above is a peculiar epidemiological profile of IESS in South Asia Nissen fundoplication with spasms! Pediatricians and providers to share with parents, see your childs esophagus injury, and fundoplication regards., Ohio 44195 |, important Updates + notice of Vendor Data Event exact cause Sandifer! Syndrome ): update and resources for pediatricians and providers to share with.! Case definitions and outcome measures in studies of infantile spasms are an age-specific epileptic disorder of infancy and childhood., Yoshinaga H, Sato M. Prenatal etiologies of West syndrome gastroesophageal reflux and! 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