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Síndrome de Sandifer
ORPHA:71272CID-10 · G24.8CID-11 · 8A02.2DOENÇA RARA

A Síndrome de Sandifer é um problema de movimento em que a pessoa tem espasmos e movimentos musculares involuntários e repetitivos, que aparecem em crises. Ela está associada ao refluxo gastroesofágico e, em alguns casos, à hérnia de hiato.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Sandifer é um problema de movimento em que a pessoa tem espasmos e movimentos musculares involuntários e repetitivos, que aparecem em crises. Ela está associada ao refluxo gastroesofágico e, em alguns casos, à hérnia de hiato.

Publicações científicas
64 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
+ childhood, infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G24.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
4 sintomas
👁️
Olhos
1 sintomas
🩸
Sangue
1 sintomas
📏
Crescimento
1 sintomas
🫘
Rins
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Torcicolo
Muito frequente (99-80%)
90%prev.
Refluxo gastroesofágico
Muito frequente (99-80%)
90%prev.
Postura anormal
Muito frequente (99-80%)
90%prev.
Movimentos anormais da cabeça
Muito frequente (99-80%)
55%prev.
Esofagite
Frequente (79-30%)
55%prev.
Movimentos oculares involuntários anormais
Frequente (79-30%)
13sintomas
Muito frequente (4)
Frequente (8)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

TorcicoloTorticollis
Muito frequente (99-80%)90%
Refluxo gastroesofágicoGastroesophageal reflux
Muito frequente (99-80%)90%
Postura anormalAbnormal posturing
Muito frequente (99-80%)90%
Movimentos anormais da cabeçaAbnormal head movements
Muito frequente (99-80%)90%
EsofagiteEsophagitis
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico64PubMed
Últimos 10 anos18publicações
Pico20213 papers
Linha do tempo
2025Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de Sandifer

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
18 papers (10 anos)
#1

Aspiration pneumonia secondary to GERD (Sandifer syndrome) in a malnourished infant: a case report.

Annals of medicine and surgery (2012)2026 Feb

Aspiration pneumonia in infancy may arise as a consequence of several underlying medical conditions, among which gastroesophageal reflux disease (GERD) is a notable contributor. Sandifer syndrome (SS), a rare complication of GERD, is characterized by neurological manifestations secondary to reflux. Atypical clinical presentations commonly contribute to delayed recognition of the condition. When a malnourished infant presents with odd movements and breathing issues, SS should not be overlooked - even in early infancy. We discuss the case of a 3-month-old female newborn from Korangi, Karachi, who came to the hospital with a brief history of fever and trouble breathing. Clinical examination found evidence of failure to thrive, severe malnutrition, and impaired respiratory function. A barium swallow and imaging studies confirmed Grade II GERD with evidence of aspiration. Electroencephalography was performed and showed results indicative of SS. The patient demonstrated a positive response to conservative treatment, which consisted of intravenous antibiotics and anti-reflux medication. This case highlights the need to recognize atypical GERD presentations in infants. Dystonic posture in SS may mimic seizures, delaying diagnosis. Early recognition avoids unnecessary neurological workups. GERD treatment resolves both gastrointestinal and motor symptoms. Missed cases may lead to aspiration and developmental delays. Clinical suspicion, feeding history, and posture around meals aid diagnosis. Timely management helps prevent complications. SS should be suspected in infants exhibiting breathing difficulties and poor weight gain. A coordinated, multidisciplinary strategy that involves early contact with gastrointestinal specialists is essential for getting the best potential outcomes.

#2

Childhood gastroesophageal reflux disease: A comprehensive review of disease, diagnosis, and therapeutic management.

World journal of clinical pediatrics2025 Jun 09

Gastroesophageal reflux disease (GERD) affects both adults and children, although the symptoms differ significantly between these groups. While adults typically experience heartburn and regurgitation, children may present with more subtle signs, such as failure to thrive, chronic cough, wheezing, and Sandifer syndrome. Diagnosing GERD in children necessitates a multifaceted approach due to the diverse symptomatology and challenges in communication. Clinical assessment serves as the cornerstone of diagnosis, supported by tools like pH monitoring, esophageal impedance testing, and upper gastrointestinal endoscopy. Imaging studies, such as barium swallow, can also provide valuable insights into anatomical abnormalities and the extent of reflux. Treatment strategies for pediatric GERD include lifestyle adjustments, pharmacotherapy, and, in severe cases, surgical interventions. Lifestyle adjustments may involve changes in feeding patterns, positional therapy, and weight management. Pharmacological options range from acid suppression with proton pump inhibitors or histamine-2 receptor antagonists to surgical procedures like fundoplication for refractory cases. Personalized management is essential, considering the child's age, symptom severity, and the presence of complications. This article aims to offer a comprehensive understanding of pediatric GERD by utilizing current research to enhance clinical approaches and improve patient outcomes.

#3

Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis.

Reports (MDPI)2025 Mar 10

Background and Clinical Significance: Sandifer syndrome is an uncommon manifestation of gastroesophageal reflux disease, characterized by paroxysmal episodes of abnormal posturing, particularly involving the neck and upper body, often associated with underlying esophageal discomfort. Case Presentation: In this report, we present a 16-month-old infant who exhibited multiple daily paroxysmal episodes of atypical head posturing, primarily tilted to the right, each lasting less than 10 s, with spontaneous resolution. Notably, these episodes lacked other neurological or systemic symptoms, and the clinical presentation differed from classical descriptions of Sandifer syndrome, which often include more prolonged dystonic posturing or correlation with feeding. The diagnosis was supported by the resolution of symptoms following the administration of a proton pump inhibitor, highlighting the importance of recognizing this condition in infants with unexplained posturing behaviors. Conclusions: This case emphasizes the variability in clinical manifestations of Sandifer syndrome and underscores the need for a high index of suspicion, as timely management of gastroesophageal reflux disease can lead to complete symptom resolution and prevent unnecessary neurological investigations.

#4

The Role of Paramedics in Diagnosing Sandifer's Syndrome.

Healthcare (Basel, Switzerland)2025 Apr 11

Background: Sandifer's syndrome is an uncharacteristic symptom of gastroesophageal reflux disease (GERD). It is often misdiagnosed as epilepsy. Paramedics can play a crucial role in recognising the differences between Sandifer's syndrome and epilepsy. Therefore, education is important to reduce the likelihood of misdiagnosis and the mistreatment of patients. This purpose of this study is to provides information and guidelines for collecting patients' medical history and identifying the most common symptoms, which support pre-hospital suspicion of Sandifer's syndrome. Methods: The study consisted of a clinical case study, concerning the management of the emergency team, in a 7-week-old child with symptoms indicative of an epileptic seizure. Results: The clinical case analysis showed that a thorough examination of the patient helped to rule out epilepsy in the child and observed the characteristic symptoms of Sandifer syndrome. While assisting the child, a rare symptom of apnoea was also observed. Conclusions: The role of the paramedics in diagnosing Sandifer's syndrome can be crucial. Their experience and knowledge of emergency situations, as well as correctly conducted tests during and immediately after ailment symptoms, can provide medical teams with key information that can help in making a correct diagnosis. The presented framework can be helpful. In the majority of cases, a correct diagnosis leads to the complete cessation of symptoms and lowers the risk of side effects from unnecessarily applied anti-epilepsy medication.

#5

Clinical Insights Into Eating-Induced Reflex Epilepsy: A Case Report of an Eight-Year-Old Girl.

Cureus2024 Aug

Eating epilepsy is a rare condition in children where seizures are triggered by the act of eating. An eight-year-old girl presented with seizures occurring primarily during mealtimes, characterized by a fixed gaze, jaw hypotonia, and impaired awareness. These seizures began at age seven, were initially uninvestigated, and progressively worsened over the year, reaching up to 20-30 episodes per meal. Diagnostic tests, including blood work, upper gastrointestinal endoscopy, psychiatric evaluation, and magnetic resonance imaging (MRI), were normal. The EEG showed generalized epileptiform activity, suggesting a seizure disorder, but the exact cause was unclear. After ruling out more common conditions with similar symptoms, such as gastroesophageal reflux disease, Sandifer syndrome, and psychogenic non-epileptic seizures, the diagnosis of reflex eating epilepsy was made in the end through a process of elimination, combining clinical features with EEG findings and through reviewing the literature. Treatment with oral sodium valproate monotherapy led to significant symptomatic improvement, reducing the frequency of seizures during meals.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC39 artigos no totalmostrando 17

2026

Aspiration pneumonia secondary to GERD (Sandifer syndrome) in a malnourished infant: a case report.

Annals of medicine and surgery (2012)
2025

Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis.

Reports (MDPI)
2025

Childhood gastroesophageal reflux disease: A comprehensive review of disease, diagnosis, and therapeutic management.

World journal of clinical pediatrics
2025

The Role of Paramedics in Diagnosing Sandifer's Syndrome.

Healthcare (Basel, Switzerland)
2024

Clinical Insights Into Eating-Induced Reflex Epilepsy: A Case Report of an Eight-Year-Old Girl.

Cureus
2024

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

Pediatric surgery international
2023

Sandifer syndrome in a 30-day-old infant: A case report.

Tropical doctor
2021

Sandifer Syndrome: A Case Report.

JNMA; journal of the Nepal Medical Association
2021

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

Clinical neurology and neurosurgery
2021

The Spectrum of Underlying Diseases in Children with Torticollis.

Turkish neurosurgery
2020

Paroxysmal head drops with ataxia-like symptoms presenting as Sandifer syndrome in a 3-year old girl.

BMJ case reports
2020

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

European journal of pediatrics
2017

First manifestation of citrullinemia type I as Sandifer syndrome.

The Turkish journal of pediatrics
2016

[Sandifer's syndrome in a 5-month-old child with suspicion of infantile spasms].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2015

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

AJP reports
2016

Intermittent head drops: the differential spectrum.

Journal of neurology, neurosurgery, and psychiatry
2015

Torticollis in children: an alert symptom not to be turned away.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Ver todos os 39 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Aspiration pneumonia secondary to GERD (Sandifer syndrome) in a malnourished infant: a case report.
    Annals of medicine and surgery (2012)· 2026· PMID 41675825mais citado
  2. Childhood gastroesophageal reflux disease: A comprehensive review of disease, diagnosis, and therapeutic management.
    World journal of clinical pediatrics· 2025· PMID 40491743mais citado
  3. Sandifer Syndrome Case Report: An Unusual Presentation with Paroxysmal Torticollis.
    Reports (MDPI)· 2025· PMID 40729242mais citado
  4. The Role of Paramedics in Diagnosing Sandifer's Syndrome.
    Healthcare (Basel, Switzerland)· 2025· PMID 40281832mais citado
  5. Clinical Insights Into Eating-Induced Reflex Epilepsy: A Case Report of an Eight-Year-Old Girl.
    Cureus· 2024· PMID 39328688mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:71272(Orphanet)
  2. MONDO:0019104(MONDO)
  3. GARD:9684(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q3656132(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome de Sandifer

ORPHA:71272 · MONDO:0019104
Prevalência
Unknown
Herança
Not applicable
CID-10
G24.8 · Outras distonias
CID-11
Início
Adult, Childhood, Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0338465
EuropePMC
Wikidata
Papers 10a
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