Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Episodic apnea leading to asphyxia is a relatively common disorder of young children. Important apnea syndromes include apnea of prematurity, "narrow upper airway syndrome," congenital hypoventilation syndrome, breath-holding spells, and "near-miss" sudden infant death syndrome. More recently described syndromes include apnea associated with feedings, regurgitation or gastroesophageal reflux, and apnea initiated by epileptic seizures. Apnea occurring during wakefulness is common and may be related to that occurring during sleep. Knowledge of the clinical features and pathophysiology of these various kinds of apnea is important in their management.
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PMID:Sleep apnea in infancy and childhood. 390 4

A four-month-old boy with pseudo-seizures was extensively investigated for fits and gastro-oesophageal reflux and subsequently treated for presumed epilepsy. It was finally established that his mother was inducing the "seizures" by asphyxiation and subsequent interviews established that information concerning the parents had been falsified.
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PMID:SIDS, seizures or 'sophageal reflux? Another manifestation of Munchausen syndrome by proxy. 404 52

Sudden infant death syndrome (SIDS) probably represents a number of specific processes rather than one disease, the causes of which have so far eluded scientists. Various hypotheses as to cause are discussed, as is the role of the emergency physician. Also considered are apparently life-threatening events such as prolonged sleep apnea, laryngeal-induced apnea, gastroesophageal reflux-induced apnea, and seizure-associated apnea.
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PMID:Sudden infant death syndrome (SIDS), apnea, and near miss for SIDS. 639 85

Knowledge regarding the etiology and optimal management of prolonged apnea and its relationship to SIDS is still limited. The majority of infants with prolonged apnea do not die of SIDS, although the risk of SIDS in this group is greater than in the general population. Many infants with prolonged apnea who are perceived by parents and physicians as having had a "life-threatening" event may be at risk for another. Appropriate assessment following this event includes a careful history and physical examination to determine cause and severity. Etiologies to be considered include infections, metabolic aberrations, seizure problems, cardiac arrhythmias or congenital heart disease, anatomic airway abnormalities, gastroesophageal reflux and impaired regulation of breathing. If a specific cause has been identified for the infant's apnea, appropriate treatment often will lead to resolution of the apnea problem. If a specific etiology has not been identified or if the risk of "life-threatening" prolonged apnea seems to persist, electronic cardiorespiratory monitoring may be considered. Appropriate treatment for asymptomatic infants who are at increased statistical risk of SIDS is controversial. Asymptomatic infants may be candidates for home monitoring, but as yet, there are no reliable tests to predict which infants are at risk for prolonged apnea. Monitoring at home must be prescribed by the physician and should be continued until judged no longer appropriate by the attending physician. Skilled caregivers are crucial to the continuous observation and management of these patients in the hospital and at home. Therefore parents should be taught monitor use and also CPR.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Evaluation and management of infantile apnea. 670 8

A wide range of clinical findings was present in 58 near-miss sudden infant death syndrome (SIDS) infants and 6 surviving twins of SIDS siblings. Specific investigations included: studies of gastro-oesophageal reflux and aspiration (24-hour oesophageal pH recordings, barium swallow, radionuclide 'milk-scan'); polygraphic studies of breathing, reflux, and sleep state; studies of upper airways disease (lateral airways radiography and endoscopy); detection of seizure activity by electroencephalography; evaluation of thiamine status by erythrocyte transketolase activity of venous blood. Thiamine deficiency was found in 12 of 43 tested infants; 5 of the deficient infants had a familial history of SIDS. Many potential mechanisms for asphyxia were found: idiopathic central apnoea (7 infants), tracheal obstruction from minimal tracheomalacia or aberrant innominate artery (4 infants), temporal lobe or generalised seizures (6 infants), gastro-oesophageal reflux (55 infants) with intrapulmonary aspiration (11 infants). The high incidence, severity, and timing of reflux were new findings. Reflux occurred in active and indeterminate sleep, but not in quiet sleep. The depression of respiratory reflexes by active sleep stresses the vulnerability to asphyxia. Two factors suggest that near-miss episodes are related to SIDS: the similar age distribution but earlier occurrence of near-miss episodes compared with age at death of SIDS infants, and the subsequent sudden death of 2 infants whose necropsies were consistent with SIDS.
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PMID:Multiple causes of asphyxia in infants at high risk for sudden infant death. 683 Mar 4

Twenty-six infants with unexplained and apparently life-threatening apnea were evaluated clinically, underwent eight- or 12-hour polygraphic recordings during sleep, and were then observed on home monitors. The one exception was an infant who was treated with theophylline and not monitored at home. Clinical evaluation revealed a history of vomiting in 19 infants, gastroesophageal reflux (GER) on esophagram in 19, and subtle neurologic abnormalities in ten. Polygraphic studies revealed questionable EEG abnormalities in nine infants, abnormal rapid eye movement (REM) time in four, prolonged apnea in one, and increased frequency of brief mixed (central and obstructive) and obstructive apneas in five. Of the 11 infants who underwent pH monitoring during their polygraphic sleep studies, seven had at least one recorded episode of GER, but the episodes were not accompanied by apnea or bradycardia. Thirteen infants had a subsequent episode of apnea that required stimulation, and in eight infants, cardiopulmonary resuscitation was given. There was two deaths. Two infants subsequently developed seizure disorders. Three of the five infants who underwent surgical fundoplication had recurrent apneic episodes. GER commonly occurred in these infant apnea patients but did not correlate with the clinical outcome. Although subtle abnormalities may be detected by sophisticated polygraphic monitoring studies, they are not predictive of recurrent apnea or death. Home monitoring may be useful in detecting the infant at risk for recurrent life-threatening apnea and in providing some safeguard for that infant.
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PMID:Infant apnea: polygraphic studies and follow-up monitoring. 683 55

We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv(9qh+) chromosome. The mother's karyotype was 46,XX,inv(9qh+), while the father's was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient's birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported since then. Of these cases reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome.
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PMID:Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. 777 85

We present the case of a 7-month-old girl with Gaucher disease who required anesthetic care during laryngoscopy, bronchoscopy, and central line placement. Gaucher disease is a familial disorder of lipid catabolism with autosomal recessive inheritance. Due to the defective function of the enzyme glucosylceramide beta-glucosidase, glycosphingolipids accumulate, leading to end-organ dysfunction. Three clinical variants of the disease, which differ in age of onset, degree of central nervous system (CNS) involvement, and frequency in the population, have been described. Of concern to the anesthesiologist is the occurrence of significant CNS dysfunction in types II and III, with seizures, gastroesophageal reflux, and chronic aspiration. Bulbar involvement and infiltration of the upper airway with glycolipids may lead to upper airway obstruction. Additionally, hepatosplenomegaly, present in all three variants, may lead to hypersplenism with thrombocytopenia and anemia. Preoperative identification of the associated end-organ dysfunction will allow the safe provision of anesthetic care for these children.
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PMID:Anesthetic considerations in the child with Gaucher disease. 809 1

The authors present and discuss the care of a nine-month-old with neonatal adrenoleukodystrophy who required general anaesthesia for gastrointestinal endoscopy. Neonatal adrenoleukodystrophy is an inherited disorder of peroxisomal enzymes. Anaesthetic care may be affected by the presence of hypotonia, liver function abnormalities, gastroesophageal reflux, and impaired adrenocortical function. Preoperative sedation is contraindicated because of the risk of precipitating airway obstruction due to pre-existing hypotonia. Anaesthetic induction and tracheal intubation should be performed to minimize the risk for aspiration of gastric contents. The choice of muscle relaxant should take into account the pre-existing hypotonia as well as the possibility of hyperkalaemia in response to succinylcholine. Anaesthetic agents known to decrease the seizure threshold should be avoided in patients with a seizure disorder. In addition, anaesthetic agents that rely on the liver for metabolism should be used with caution in patients with cirrhosis. When time permits, these patients should be screened for adrenocortical insufficiency before surgery, and perioperative steroid coverage is advisable when preoperative testing of adrenocortical function is not feasible. While these patients eventually die after progressive deterioration, full recovery from the effects of anaesthesia and surgery can be achieved with attention to neurological, metabolic, and physical problems.
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PMID:Anaesthesia for the patient with neonatal adrenoleukodystrophy. 811 45

Recurrent gastroesophageal reflux (GER) after antireflux procedures (ARP) has been correlated with significant neurological impairment (NI). Other major risk factors for recurrent GER have not been extensively characterized. The authors reviewed their experience with ARPs in children to better characterize the risk factors for recurrent GER and identify successful management strategies for these patients. The charts of 281 consecutively treated children who had an ARP at our institution (1985 to 1992) were reviewed. The neurological status of each child was assessed as normal or impaired (cerebral palsy, seizures, mental retardation, spasticity), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, cystic fibrosis, bronchopulmonary dysplasia, asthma, etc), and congenital malformations and syndromes were identified. The average follow-up period was 3 years (range, 1 to 7.5 years). Patients with symptoms of recurrent GER were evaluated with an upper gastrointestinal study. Patients with a radiologically intact fundoplication and suspected GER were further evaluated with a 24-hour pH probe. Statistical analyses were performed using the Fisher's Exact Test. Of the 281 patients who underwent ARP, 39 had documented recurrent GER (average, 16 months after surgery). Twenty-five (64%) of these children had chronic pulmonary disease (CPD). Thirty-two percent of all children with CPD had recurrent GER after ARP, versus 7% of those without CPD (P < .0001). For children with NI and CPD there was an increased risk (P < .0001) of failure when compared with the risk in the normal subgroup (children without CPD or NI) who underwent ARP.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Chronic lung disease is the leading risk factor correlating with the failure (wrap disruption) of antireflux procedures in children. 817 86


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