A systematic review of Sandifer syndrome in children with severe gastroesophageal reflux.

PURPOSE: Sandifer syndrome (SS), which combines gastroesophageal reflux (GER) and a neurological or psychiatric disorder, is an uncommon condition that often takes a long time to diagnosis. We aimed to systematically review available papers regarding SS. METHODS: After presenting our two cases of SS, we systematically reviewed articles published in MEDILINE/PubMed, Cochrane Library, and Web of Science. RESULTS: The meta-analysis included 54 reported cases and 2 of our own cases. Our results showed that all cases achieved symptom improvement with appropriate treatment for GER. Notably, 19 of the 56 cases exhibited anatomical anomalies, such as hiatal hernia and malrotation. Significantly more patients with than without anatomical anomalies required surgery (p < 0.001). However, 23 of the 29 patients without anatomical anomalies (79%) achieved symptom improvement without surgery. Patients who did not undergo surgery had a median (interquartile range) duration to symptom resolution of 1 (1-1) month. CONCLUSION: The primary care providers should keep SS in the differential diagnosis of patients presenting with abnormal posturing and no apparent neuromuscular disorders. Fundoplication may be effective especially for patients with anatomical anomalies or those whose symptoms do not improve after more than 1 month with nonsurgical treatment.

Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study.

BACKGROUND: Non-Epileptic Paroxysmal Events (NEPE) are common clinical manifestations in pediatric age presenting with dysfunction of motor and behavioral activity mimicking features of epileptic seizures. OBJECTIVE: To present and analyze number and clinical characteristic of a group of children/adolescents presenting with various types of NEPE; to compare clinical data of this group of NEPE affected children/adolescents with a group of children/adolescents affected by Epileptic Seizures (ES). METHODS: The retrospective study was conducted at the Pediatric Clinic of University of Catania, Catania, Italy, in a period ranging from January 2005 and January 2018. Two groups of children/adolescents, aged from 1 month to 15 years, were selected: 312 affected by NEPE and 192 by ES. Number and percentage of the single type of NEPE were reported. Then, demographic characteristics, clinical manifestations, duration of the events, time of diagnosis, and age of onset of each type of NEPE and ES affected children/adolescents were analyzed and compared. Results of statistical analysis of the data were carried out between ES and some type of NEPEs including Sandifer syndrome, breath-holding spells, paroxysmal tremors, vertigo, and syncope. RESULTS: Among the group of NEPE, vertigo, type of paroxysmal event clinically not classifiable, syncope, and Sandifer syndrome were the most common events; In the comparative analyzed samples, variability between NEPE and ES was found in the duration of the paroxysmal events, in number of episodes, in lag-time between the onset of symptoms and the diagnosis, and in age of onset. Analyzing clinical data of ES with some type of NEPE, statistical significant results were obtained in vertigo as regards the duration and average duration event, in paroxysmal tremors as number of events, in Sandifer syndrome as lag-time of diagnosis, and finally in all the types of NEPE as regards the age of onset, and loss of consciousness. CONCLUSIONS: Analyzing the clinical features of each type of NEPE differences with ES are found. However, globally considered diagnostic differences between NEPE and ES remain difficult, questionable, and unrealizable without the support of correct parental report, direct clinical observations, and video-EEG monitoring.

Sandifer Syndrome: A Case Report.

Sandifer syndrome is an extra oesophageal manifestation of gastrointestinal reflux disease that usually presents with torticollis and dystonia (often mimicking epilepsy). Here, we describe a case of a four and a half years old child with convulsion, neck contortion, and irritability. Gastrointestinal reflux disease was suspected on the earlier visit of the patient based on the presenting symptom of vomiting and cough. Electroencephalogram revealed normal findings. A barium meal radiograph was performed which was insignificant for gastrointestinal reflux disease and hiatal hernia. Complete blood count showed results suggestive of iron deficiency anaemia, while the rest of the biochemical parameters and the infection screening were normal. The case was confirmed by a medication trial for gastrointestinal reflux disease. This syndrome is often misdiagnosed as infantile seizure and musculoskeletal disorder. So, physicians need to have a sound knowledge of Sandifer Syndrome while assessing a child presenting with convulsion and torticollis.

Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms.

Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the Sandifer syndrome. A comprehensive literature search was performed via PubMed, Cochrane Library and NHS Evidence databases. Twenty-seven cases and observational studies were identified. The literature demonstrates that presenting symptoms of Sandifer's may include any combination of abnormal movements and/or positioning of head, neck, trunk and upper limbs, seizure-like episodes, ocular symptoms, irritability, developmental and growth delay and iron-deficiency anaemia. A 24-h oesophageal pH monitoring was positive in all the cases of Sandifer's where it was performed, while upper GI endoscopy ± biopsy and barium swallow were diagnostic only in a subset of cases. Successful treatment of the underlying gastro-oesophageal pathology led to a complete or near-complete resolution of the neurological symptoms in all of the cases.Conclusion: It is evident from the literature that many patients with Sandifer syndrome were originally misdiagnosed with various neuropsychiatric diagnoses that led to unnecessary testing and ineffective medications with significant side effects. Earlier diagnosis of Sandifer's would have allowed to avoid them.What is Known:• Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological.• It may be difficult to recognise due to its non-specific presentation and lack of gastrointestinal symptoms.What is New:• Based on the review of 44 clinical cases of suspected Sandifer syndrome, the clinical picture was clarified: the presenting symptoms of Sandifer's may include any combination of abnormal movements and/or positioning of head, neck, trunk and upper limbs, seizure-like episodes, ocular symptoms, irritability, developmental and growth delay and iron-deficiency anaemia.• Successful treatment of the underlying gastro-oesophageal pathology led to a complete or near-complete resolution of the neurological symptoms in all of the reviewed cases.

First manifestation of citrullinemia type I as Sandifer syndrome.

Kiliç M, Altinel-Açoglu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. First manifestation of citrullinemia type I as Sandifer syndrome. Turk J Pediatr 2017; 59: 696-698. We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.

Treatment of Sandifer Syndrome with an Amino-Acid-Based Formula.

Objective To study the presentation and treatment in two infants who presented with refractory Sandifer syndrome (SS). Study Design We retrospectively reviewed the cases of two infants who presented to our outpatient clinic with SS who were refractory to conventional treatment. Results We report two patients with refractory SS who responded to treatment with hypoallergenic formula. Conclusion It is important to consider a diagnosis of milk protein allergy responsive to hypoallergenic formula in patients with SS who are refractory to conventional antireflux treatment.

A case of congenital myopathy masquerading as paroxysmal dyskinesia.

Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented, possibility of dyskinesia was kept. However, when he did not respond to symptomatic therapy, Sandifer syndrome was thought of and GER scan was done, which revealed severe GER. After his symptoms got reduced to some extent, a detailed clinical examination revealed abnormal facies with flaccid quadriparesis. Muscle biopsy confirmed the diagnosis of a specific congenital myopathy. On antireflux measures, those episodic paroxysms reduced to some extent. Partial response to therapy in GER should prompt search for an underlying secondary etiology.

Sindrome de sandifer: a propósito de la enfermedad por reflujo gastroesofágico en niños / Sandifer syndrome and gastroesophageal reflux in childre

El Síndrome de Sandifer es un trastorno neuroconductual con movimientos de hiperextensión de cuello, cabeza y tronco, con rotación de cabeza, que generalmente se presentan durante o inmediatamente después de la ingesta de alimentos y cesa durante el sueño, secundario a enfermedad por reflujo gastroesofágico. Se caracteriza por esofagitis, anemia por deficiencia de hierro y son confundidos con frecuencia como crisis de origen epiléptico. Lactante masculino de 5 meses referido por movimientos de tónico-clónicos generalizados, de segundos de duración, con una frecuencia de 30 episodios al día, que no ceden con el uso de 3 anticonvulsivantes. Disfagia a alimentos pastosos. Hospitalización al mes de vida por episodio de amenazante de la vida. Estudios neurológicos normales. Paraclínica: anemia microcítica e hipocrómica. Videodeglutoscopia: Disfagia de fase oral leve, disfagia fase esofágica a estudiar (Regurgitación), reflujo faringolaringeo según escala de Belafsky y Larigomalacia grado I; pHmetría de 24 horas con impedancia, puntación de Boix-Ochoa de 26%, durante la colocación de la sonda se observo posición anómala de la cabeza e hiperextensión del dorso. Estudio contrastado de esófago, estómago y duodeno sin anormalidad anatómica. Endoscopia digestiva superior: Esofagitis no erosiva, Hernia hiatal. El Síndrome de Sandifer es una de las presentaciones atípicas de RGE en lactantes. Amerita la evaluación de un equipo multidisciplinario para establecer el diagnóstico. El manejo medico incluyó medidas antireflujo, esomeprazol y técnica de alimentación adecuada con evolución satisfactoria. La diversidad de enfermedades relacionadas con RGE exige el uso de variadas técnicas para lograr diagnósticos más asertivos

Sandifer's syndrome is a neurobehavioral disorder with hyperextension movements of neck, head and trunk, head rotation, which usually occur during or immediately after food intake and ceases during sleep, secondary to gastroesophageal reflux disease. It is characterized by esophagitis, anemia and iron deficiency are often confused as a crisis of epileptic origin. A male infant of 5 months reported by tonic-clonic movements of widespread, lasting seconds, with a frequency of 30 episodes per day, which do not yield with the use of 3 anticonvulsants. Pasty food dysphagia. Hospitalization month of life-threatening episode of life. Normal neurological studies. Paraclinical: hypochromic microcytic anemia. Videodeglutoscopia: mild oral phase dysphagia, esophageal dysphagia to study phase (regurgitation), pharyngolaryngeal reflux as Belafsky and Larigomalacia scale grade I, ph-metry of 24 hours with impedance, Boix-Ochoa score of 26% during the placement of probe was observed abnormal head position and hyperextension of the back. Contrast study of esophagus, stomach and duodenum without anatomical abnormality. Upper gastrointestinal endoscopy: nonerosive esophagitis, hiatal hernia. Sandifer Syndrome is one of the atypical presentations of GER in infants. Warrants evaluation by a multidisciplinary team to establish the diagnosis. The medical management included antireflux measures, esomeprazole and proper feeding technique with satisfactory outcome. The diversity of diseases associated with GER requires the use of various diagnostic techniques to get more assertive

Síndrome de Sandifer: associação entre movimentos e posturas anormais e refluxo gastresofágico / Sandifer's Syndrome: association between abnormal postures and movements and gastroesophageal reflux

Apresentação de um caso de síndrome de Sandifer, que se caracteriza pela associação de posturas e movimentos anormais com refluxo gastresofágico. Os sinais e sintomas desta condição são, em geral, erroneamente atribuídos a problemas neurológicos, o que acarreta a exposição das crianças afetadas a procedimentos desnecessários, não raramente caros e invasivos e, freqüentemente, à prescrição de drogas ineficazes e não isentas de efeitos colaterais importantes. Criança com 9 meses de idade que vem apresentando, há cerca de 1 mês, episódios de curta duração em que vira o rosto para o lado esquerdo, eleva o ombro do mesmo lado e, mais raramente, apresenta postura tônica de todo o hemicorpo deste lado. Os episódios chegam a se repetir até seis vezes ao dia apresentando-se, por vezes, em salvas. Durante os episódios a criança parece não ter comprometimento da consciência. Após diagnóstico de epilepsia com crises parciais, vem recebendo medicação anticonvulsivante, tendo apresentado, segundo a mãe, discreta melhora. Embora os informantes tenham negado a existência de fatores desencadeantes, após interrogatório direto referiram que a criança apresentou, no passado, refluxo gastresofágico e admitiram que talvez houvesse certa relação temporal das “crises” com os horários da alimentação. Uma vez que as “crises” descritas pelos familiares não tinham características claramente epilépticas, havia a associação temporal com os horários da alimentação e tratava-se de criança que havia apresentado refluxo gastresofágico, a suspeita diagnóstica aventada e posteriormente confirmada foi de síndrome de Sandifer.(AU)

Presentation of one case of Sandifer's syndrome which is characterized by the association between abnormal movements and postures and gastroesophageal reflux. Signs and symptoms of this condition are usually erroneously attributed to neurological problems, resulting in the exposition of the involved children to unnecessary expansive and invasive procedures, and frequently to the prescription of inefficient drugs not free from important adverse effects. Nine months old child presenting in the last month short duration episodes of turning the face to the left side, elevating the shoulder of the same side and, more rarely, presenting tonic posture of all this side of the body. The episodes are repeated up to six times a day as volley, during which the child seems to have the consciousness preserved. After partial seizures epilepsy diagnosis, the child has been receiving antiepileptic drugs, and has presented discrete improvement, as to the mother. Although outbreaking factors have been denied by the parents, they referred that the child had presented gastroesophageal reflux in the past and admitted certain relation between the "seizures" and the feeding times. Since the "seizures" described by the parents were not clearly characterized as epileptic ones, and were associated with feeding times, and the child had presented gastroesophageal reflux, Sandifer's syndrome was the most likely suspected diagnosis in fact further confirmed.(AU)

Síndrome de Sandifer: associação entre movimentos e posturas anormais e refluxo gastresofágico / Sandifer's Syndrome: association between abnormal postures and movements and gastroesophageal reflux

Apresentação de um caso de síndrome de Sandifer, que se caracteriza pela associação de posturas e movimentos anormais com refluxo gastresofágico. Os sinais e sintomas desta condição são, em geral, erroneamente atribuídos a problemas neurológicos, o que acarreta a exposição das crianças afetadas a procedimentos desnecessários, não raramente caros e invasivos e, freqüentemente, à prescrição de drogas ineficazes e não isentas de efeitos colaterais importantes. Criança com 9 meses de idade que vem apresentando, há cerca de 1 mês, episódios de curta duração em que vira o rosto para o lado esquerdo, eleva o ombro do mesmo lado e, mais raramente, apresenta postura tônica de todo o hemicorpo deste lado. Os episódios chegam a se repetir até seis vezes ao dia apresentando-se, por vezes, em salvas. Durante os episódios a criança parece não ter comprometimento da consciência. Após diagnóstico de epilepsia com crises parciais, vem recebendo medicação anticonvulsivante, tendo apresentado, segundo a mãe, discreta melhora. Embora os informantes tenham negado a existência de fatores desencadeantes, após interrogatório direto referiram que a criança apresentou, no passado, refluxo gastresofágico e admitiram que talvez houvesse certa relação temporal das “crises” com os horários da alimentação. Uma vez que as “crises” descritas pelos familiares não tinham características claramente epilépticas, havia a associação temporal com os horários da alimentação e tratava-se de criança que havia apresentado refluxo gastresofágico, a suspeita diagnóstica aventada e posteriormente confirmada foi de síndrome de Sandifer.

Presentation of one case of Sandifer's syndrome which is characterized by the association between abnormal movements and postures and gastroesophageal reflux. Signs and symptoms of this condition are usually erroneously attributed to neurological problems, resulting in the exposition of the involved children to unnecessary expansive and invasive procedures, and frequently to the prescription of inefficient drugs not free from important adverse effects. Nine months old child presenting in the last month short duration episodes of turning the face to the left side, elevating the shoulder of the same side and, more rarely, presenting tonic posture of all this side of the body. The episodes are repeated up to six times a day as volley, during which the child seems to have the consciousness preserved. After partial seizures epilepsy diagnosis, the child has been receiving antiepileptic drugs, and has presented discrete improvement, as to the mother. Although outbreaking factors have been denied by the parents, they referred that the child had presented gastroesophageal reflux in the past and admitted certain relation between the "seizures" and the feeding times. Since the "seizures" described by the parents were not clearly characterized as epileptic ones, and were associated with feeding times, and the child had presented gastroesophageal reflux, Sandifer's syndrome was the most likely suspected diagnosis in fact further confirmed.

A Case of Sandifer Syndrome

Sandifer syndrome is a rare manifestation of gastroesophageal reflux in children, occurring in association with abnormal movement of the head and neck and recurrent episodes of seizure after feeding. This syndrome may be misdiagnosed as infantile seizure and musculoskeletal disorder and may be associated with failure to thrive, anemia, aspiration pneumonia, and esophagitis. In this paper, Sandifer syndrome in a four months old male with recurrent aspiration pneumonia, apnea, and seizure after feeding is presented.