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Sandifer Syndrome


Presentation

  • Objective To study the presentation and treatment in two infants who presented with refractory Sandifer syndrome (SS).[ncbi.nlm.nih.gov]
  • An infant with this extremely rare syndrome is presented along with a review of the related literature.[ncbi.nlm.nih.gov]
  • […] and treatment in two infants who presented with refractory Sandifer syndrome (SS).[doi.org]
  • If present, medical management is usually successful.[ncbi.nlm.nih.gov]
  • In the eight cases barium swallow, 24 h pH-metering, manometry, endoscopy and biopsy were made, presenting pathological GER. The barium swallow was pathologic in 62% of them. The pH-metering in 37%.[ncbi.nlm.nih.gov]
Turkish
  • AU - Senocak,M E, AU - Arda,I S, AU - Büyükpamukçu,N, PY - 1993/7/1/pubmed PY - 1993/7/1/medline PY - 1993/7/1/entrez SP - 209 EP - 13 JF - The Turkish journal of pediatrics JO - Turk. J. Pediatr.[unboundmedicine.com]
Grunting
  • Hailey started grunting/convulsing, she has had an episode or two like this before that we thought were from constipation, so I gave her a glycerin suppository.[sweet-baby-s.blogspot.com]
  • The child may cry very briefly or let out a couple of grunts and then becomes exceedingly pale and loses consciousness.[epilepsydiagnosis.org]

Workup

Multifocal Epileptiform Discharges
  • epileptiform discharges with slowing of intrinsic background activity.[web.archive.org]
Focal Spikes
  • During wakefulness, interictal EEG was dominated by beta and interpolated theta activity along with focal spikes from several independent sites.[paedcro.com]

Treatment

  • Results We report two patients with refractory SS who responded to treatment with hypoallergenic formula.[ncbi.nlm.nih.gov]
  • Management and treatment Early diagnosis of the syndrome is essential, as effective treatment of the gastro-oesophageal reflux (by pharmacological therapy or surgical intervention) leads to resolution of the movement disorder.[orpha.net]
  • Three patients received surgical treatment and the rest medical treatment, with improvement of the neck contorsion in all cases.[ncbi.nlm.nih.gov]
  • Results We report two patients with refractory SS who responded to treatment with hypoallergenic formula.[doi.org]
  • Early diagnosis permits prompt treatment and relief of the problem. Medical management is usually successful.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis The prognosis for patients is good. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis The prognosis for patients is good. Last updated: 3/22/2007[rarediseases.info.nih.gov]
  • Sandifer syndrome is not typically life-threatening and the prognosis is typically good. Sandifer syndrome was first described in 1964 by Austrian neurologist Marcel Kinsbourne in The Lancet.[en.wikipedia.org]
  • Once diagnosed, the prognosis for Sandifer syndrome is generally quite good. Treatment almost always involves the treatment of the underlying GERD or hiatal hernia, which usually results in diminishment of the other symptoms.[wisegeekhealth.com]

Etiology

  • Etiology The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood.[orpha.net]
  • Etiology and Pathophysiology Movements are hypothesized to be a vagally mediated reflex response to esophageal acid exposure ( 3 ). The eosinophilic esophagitis from cow’s milk protein allergy may also be a cause of Sandifer syndrome ( 4 ).[unboundmedicine.com]
  • : The etiology of congenital muscular torticollis is not well understood The main theories attribute congenital torticollis to either 1) abnormal fetal positioning in utero or 2) birth trauma Malposition of the head in utero is believed to cause an “in[pedclerk.bsd.uchicago.edu]

Epidemiology

  • Summary Epidemiology The prevalence is unknown. Clinical description Onset usually occurs during infancy or early childhood.[orpha.net]
  • Epidemiology The prevalence is unknown. Clinical description Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine.[rarediseases.info.nih.gov]
  • Abnormal movements are often temporally associated with feedings and include the following: Irritability/crying Head/eye version Torticollis Extensor spasm Dystonic posturing Apnea Minimal jerking of the extremities Epidemiology Sandifer syndrome is underrecognized[unboundmedicine.com]
  • Epidemiology Frequency International The incidence is unknown, although some suggestion indicates that in clinical practice it occurs in less than 1% of children with gastroesophageal reflux.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Possible pathophysiological mechanisms of the abnormal movements in Sandifer syndrome are discussed.[ncbi.nlm.nih.gov]
  • Etiology The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood.[orpha.net]
  • The syndrome is most certainly underrecognized, and delays in diagnosis are due to atypical presentations or cases in which the diagnosis is not part of the differential. [3, 4, 5, 6, 24] Pathophysiology The true pathophysiologic mechanisms of this condition[emedicine.com]
  • The true pathophysiological mechanisms of the condition are still unclear. We report the diagnosis of Sandifer syndrome in a 9-year-old boy with a history of chronic torticollis and dystonic episodes for 5 years associated with abdominal symptoms.[ncbi.nlm.nih.gov]

Prevention

  • Treatments: Infants with sandifer syndrome will likely be prescribed to medication to prevent or reduce their GERD episode. It may include infant sized dosages of common GERD medications like H2 blockers. Neurological treatment is usually normal.[topsyndrome.blogspot.com]
  • Would prevent Hudson from burping or throwing up. G-Tube: is a tube inserted through the abdomen that delivers nutrition directly to the stomach.[hudsonschallenge.wordpress.com]
  • […] dystonia) Sandifer syndrome induced torticollis secondary to gastroesophageal reflux Drug induced torticollis Increased intracranial pressure induced torticollis Torticollis secondary to conversion disorder Epidemiology including risk factors and primary prevention[now.aapmr.org]
  • In severe cases, the ptosis may cover the center visual axis and prevent the development of good vision. If the ptosis is severe enough, eyelid surgery is recommended.[cdlsusa.org]
  • Fundoplication is the most reliable way to surgically prevent reflux, and is successful more than 90% of the time in published studies.[ds-health.com]

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