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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Achalasia is a neuromuscular functional disturbance with dystonia and dyscinesia of the entire tubular oesophagus of unknown aetiology characterised by loss of cardial opening reflex. In the usual functional state dysphagia and moderate stenosis are observed, but occasionally an organic form with marked mega-dolicho-oesophagus will develop. Therapeutically an attempt is made to reduce the hypertonus of the terminal oesophagus. In mild or moderate cases this may be achieved by dilatation alone. If conservative treatment fails or in severe forms an operative correction is mandatory, we advise preoperative dilatation together with an extramucous myotomy of the distal anterior oesophageal wall and a fundoplication to prevent the gastro-oesophageal reflux. This abdominal procedure demands great care but is not traumatising and ensures satisfactory early and late results even in patients with considerable surgical risks. Operative indication and technique in 63 cases are demonstrated.
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PMID:[Achalasia of the oesophagus. Operative treatment by abdominal myotomy and fundoplication (author's transl)]. 71 70

We have studied a 3-month-old boy with severe gastroesophageal reflux, feeding difficulties, neck and upper limb dystonia, abnormal ears, normal genitalia, and anatomically apparently normal larynx and trachea. Initially diagnosed as suffering from Sandifer "syndrome," he was treated with a gastrostomy and Nissen fundoplication. However, his characteristic facial appearance subsequently led to the diagnosis of G syndrome.
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PMID:Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. 342 12

The effect of metoclopramide (MCP) on prolonged intraesophageal pH testing was evaluated in 42 infants with gastroesophageal reflux (GER). Following a baseline period of intraesophageal pH monitoring, MCP was administered by injection at 0.1 mg/kg/dose (10 patients), 0.2 mg/kg/dose (11 patients), or 0.3 mg/kg/dose (21 patients). The percentage of time of intraesophageal pH less than 4, reflux frequency, and acid clearance time were calculated for each subject before and after MCP for both 5% dextrose and formula feedings. These parameters were further separated into 2-hour or shorter and more than 2-hour postprandial periods. No significant differences with either type of feeding were noted at either 0.1 or 0.2 mg/kg/dose. Significant decreases in the percentage of time the intraesophageal pH was less than 4 (30.0 +/- 2.9 versus 15.6 +/- 3.1, p = 0.001), the reflux frequency (episodes/hour; 6.5 +/- 0.9 versus 4.0 +/- 0.6, p = 0.004), and the acid clearance time (minutes/episode; 3.8 +/- 0.7 versus 2.2 +/- 0.3, p = 0.047) were noted in the 2-hour or shorter period following 5% dextrose feedings but not following the formula feedings in the subjects receiving 0.3 mg/kg/dose. Three of the 42 study patients developed increased irritability, and one developed dystonia following MCP. These data suggest that if a clinical trial of MCP in infants with GER is performed, a larger dose of the medication than previously appreciated might be required.
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PMID:Effect of metoclopramide on prolonged intraesophageal pH testing in infants with gastroesophageal reflux. 376 Nov 4

Authors present two cases of children with abnormal movements. One of them described slow and dystonic movements of neck and head due to an important gastroesophageal reflux. These movements were useful to decrease annoyances that reflux causes in the child. Appearance of these movements and reflux is what is named "Sandifer syndrome". The other case presented stereotyped movements of head, like a negation, continuous and produced by a long intake of neuroleptics, which had caused a blockade of central dopaminergic receivers. Suppression neuroleptics of cured the child.
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PMID:[Abnormal movements in children. 2 cases of known etiology but infrequent: Sandifer syndrome and a syndrome caused by neuroleptics]. 381 29

Episodic paroxysmal laryngospasm (EPL) is a sign of laryngeal dysfunction, often without a specific organic etiology, which can masquerade as asthma, vocal fold paralysis, or a functional voice disorder. The intermittent respiratory distress of EPL may precipitate an apparent upper airway obstructive emergency, resulting in unnecessary endotracheal intubation, cardiopulmonary resuscitation, or tracheostomy. During 27 months, seven women and three men, age 30-76 years, were assessed by a high diagnostic index of suspicion, an intensive history including psychosocial factors, physical examination of the airways, provocative asthma testing, and swallowing studies. Videolaryngoscopy, stroboscopy, and pulmonary flow-volume loop testing were definitive. The classic appearance was paradoxic inspiratory adduction of the anterior vocal folds with a posterior diamond-shaped glottic gap. During an attack of stridor or wheezing, attenuation of the inspiratory flow rate as depicted by the flow-volume loop suggested partial extrathoracic upper airway obstruction. Swallowing evaluation by videolaryngoscopy and videosophagography may uncover gastroesophageal reflux disease. Hallmarks of management include patient and family education by observation of laryngoscopic videos, a specific speech therapy program, psychotherapy, and medical treatment of associated disorders. Electromyography may become a valuable future adjunct. Unlike laryngeal dystonia, patients with EPL do not benefit from botulinum toxin type A.
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PMID:Episodic paroxysmal laryngospasm: voice and pulmonary function assessment and management. 865 82

A 15-year-old girl with a former clinical diagnosis of cerebral palsy was found to have isolated deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) on gas chromatography-mass spectrometry (GC/MS) analysis and enzyme determination. Her symptoms included marked growth retardation from birth, profound mental retardation, tonic seizures, rigospastic quadriplegia with opisthotonic dystonia, gastroesophageal reflux with poor esophageal peristalsis, and recurrent episodes of aspiration pneumonia. Brain MRI revealed marked brain atrophy, involving both the gray and white matter. Although she did not exhibit acute metabolic decompensation or acute encephalopathy, her neurological symptoms continuously worsened. This patient is the oldest among reported cases of MCC deficiency who had symptoms at birth, and this case may have the severest sequelae of the longest known natural course of this inborn error of metabolism.
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PMID:Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. 918 84

Muscular tension dysphonia, episodic laryngospasm, globus, and cough may be considered to be hyperfunctional laryngeal symptoms. Suggested etiological factors for these symptoms include gastroesophageal reflux, psychological problems, and/or dystonia. We propose a unifying hypothesis that involves neural plastic change to brainstem laryngeal control networks through which each of the above etiologies, plus central nervous system viral illness, can play a role. We suggest that controlling neurons are held in a "spasm-ready" state and that symptoms may be triggered by various stimuli. Inclusion criteria for the irritable larynx syndrome are episodic laryngospasm and/or dysphonia with or without globus or chronic cough; visible or palpable evidence of tension or tenderness in laryngeal muscles; and a definite symptom-triggering stimulus. thirty-nine patients with irritable larynx syndrome were studied. Gastroesophageal reflux was felt or proven to play a major role in a large number of the group (>90%), and about one third were deemed to have psychological causative factors. Viral illness seemed quite prevalent, with one third of patients able to relate the onset of symptoms to a viral illness that we feel might lead to central nervous system changes. Our proposed hypothesis includes a mechanism whereby acquired plastic change to central brainstem nuclei may lead to this form of hyperkinetic laryngeal dysfunction. It gives structure and reason to an array of therapy measures and suggests direction for basic research.
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PMID:The irritable larynx syndrome. 1049 60

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.
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PMID:A case of Sandifer's syndrome with hand tremor. 1176 69

OBJECTIVE: This article aims at reviewing one of the most important problems faced by pediatricians in the field of child neurology. The paroxystic non-epileptic events are also a frequent reason for pediatric neurology consultations and admission for diagnostic videoelectroencephalogram monitoring. SOURCES: Literature review on the subject was perform on Medline, data were also collected from the main Pediatric Neurology Textbooks, which were found to be an important and unique source of information on the subject. SUMMARY OF THE FINDINGS: Many of the entities discussed in this paper are very common in the pediatric population such as syncope, breath-holding spells and the movement disorders associated with gastroesophageal reflux. Other syndromes are less frequent such as the paroxysmal dystonias and the Segawa Syndrome (dystonia with diurnal variation). CONCLUSIONS: The basic knowledge of these syndromes is very important since it may avoid unnecessary procedures and the wrongful diagnosis of epilepsy. Patients who are mistakenly diagnosed as epileptics are exposed to anticonvulsant medications, which are probably not going to be effective and may expose them to the risk of side effects.
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PMID:[Paroxysmal non-epileptic events] 1467 71

A 12-month-old boy diagnosed with propionic acidemia underwent gastrostomy. The patient's general state was good and he was alert, but with reduced muscular tone (unstable when seated with support, floppy head) and with dystonic movements in all extremities. An electroencephalogram showed slightly slowed brain activity. The patient was being treated with a low protein diet, phenobarbital, L-carnitine, L-isoleucine, and biotin. Surgery was carried out in satisfactory conditions with general anesthesia without opioids combined with infiltration of the surgical wound with local anesthetic. Recovery from anesthesia was rapid and free of complications. Propionic acidemia is caused by mitochondrial propionyl coenzyme carboxylase deficiency. Most patients have episodes of severe metabolic ketoacidosis as a result of excessive protein intake, delayed development, vomiting, gastroesophageal reflux, lethargy, hypotonia, and convulsions. The anesthetic approach involves avoiding triggers of metabolic acidosis (such as fasting, dehydration, hypoxemia, and hypotension) and preventing airway complications. Agents that metabolize propionic acid (such as succinylcholine, benzylisoquinoline neuromuscular blocking agents, and propofol) are not used, as they can exacerbate acidemia. We also believe that using local or regional anesthesia in combination with general anesthesia without opiates is safe and effective for controlling pain during surgery and postoperative recovery, as that combination avoids respiratory depression in these patients, who are highly sensitive to opiates.
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PMID:[Infant boy with propionic acidemia: anesthetic implications]. 1620 Sep 24


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