Cause Of Apparent Life-threatening Event Research Articles

Apparent life-threatening events in neonates and infants of the first year of life

There are presented data on the apparent life-threatening event (ALTE) that may develop as a sudden, frightening episode with the cessation of breathing (apnea), skin discoloration (cyanosis, pallor, redness), violation of muscle tone: lowering (more often) or rigidity, with the presence of cough or breathlessness in the first year infant. ALTE incidence ranges from 0.46 to 10 per 1000 live births. Common causes of ALTE are established to be gastroesophageal reflux disease, viral infections of the lower respiratory tract, convulsions, whooping cough, sepsis and/or meningitis, arrhythmias or congenital malformations of the heart and respiratory hypoxic-ischemic brain damage, cases of child abuse. There are described history characteristics and features of the examination of ALTE survivors. Most of the ALTE babies are indicated to require hospitalization for cardiorespiratory monitoring within 24 hours after the event. A child older than 30 days suffered from first ALTE clearly associated with feeding, can be observed and examined on an outpatient basis. There is notes particular importance of the new medical and organizational technologies for the improvement of newborn health care, which will significantly promote the prevention of these conditions.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

BackgroundCongenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodesof respiratory arrest in these patients are unclear. Whilst CMS-EA is most commonly caused by mutations in CHAT, the list of associated genotypes is expanding.MethodsWe reviewed clinical information from 19 patients with CMS-EA, including patients with mutations in CHAT, SLC5A7 and RAPSN, and patients lacking a genetic diagnosis.ResultsLack of genetic diagnosis was more common in CMS-EA than in CMS without EA (56% n = 18, compared to 7% n = 97). Most patients manifested intermittent apnoea in the first 4 months of life (74%, n = 14). A degree of clinical improvement with medication was observed in most patients (74%, n = 14), but the majority of cases also showed a tendency towards complete remission of apnoeic events with age (mean age of resolution 2 years 5 months). Signs of impaired neuromuscular transmission were detected on neurophysiology studies in 79% (n = 15) of cases, but in six cases, this was only apparent following specific neurophysiological testing protocols (prolonged high-frequency stimulation).ConclusionsA relatively large proportion of CMS-EA remains genetically undiagnosed, which suggests the existence of novel causative CMS genes which remain uncharacterised. In light of the potential for recurrent life-threatening apnoeas in early life and the positive response to therapy, early diagnostic consideration of CMS-EA is critical, but without specific neurophysiology tests, it may go overlooked.

A Neonate with Multiple Causes of Apparent Life-Threatening Event (ALTE): A Case Report

Apparent life-threatening event (ALTE) is a major cause of neonatal emergency visits. In this paper, we presented the case of a three-day-old neonate with multiple indications of ALTE. The patient was referred to the emergency department due to a cyanotic attack before admission. The neonate woke a few hours after breastfeeding and turned blue while crying, which was resolved spontaneously within a few seconds. During ALTE, moderate hypotonia was observed in the neonate, while the physical examination was not remarkable. Primary sepsis workup and electrolyte measurement were performed, the results of which were mostly within the normal limits, with the exception of low levels of calcium, magnesium, and vitamin D. Moreover, the infant had primary hypothyroidism and received treatment with intravenous antibiotics initially accompanied by magnesium and calcium for a few days. Treatment continued with vitamin D and levothyroxine, and the neonate was discharged from the hospital in good overall condition without further ALTE episodes. All infants must be evaluated in terms of common indications of ALTE, such as electrolyte imbalance. In addition, other probable causes of ALTE should be investigated through obtaining a detailed medical history and proper physical examination. According to the literature, neonates are likely to present with more than one manifestation of ALTE.

A neonate with multiple causes of Apparent Life-Threatening Event (ALTE)

A neonate with multiple causes of Apparent Life-Threatening Event (ALTE)

Asymptomatic Viral Gastrointestinal Infection: The Missing Link?

We present the case of an 8-month-old boy who presented with apparent life-threatening events later characterized as seizures in clusters. A total of 14 apneic episodes were observed within 24 hours before loading the patient with phenobarbital at which point the seizures stopped. There was no obvious explanation for his seizures. EEG revealed midline interictal discharges; MRI-head was normal; and all other investigations were normal. The patient's stool was sent for virology with the clinical suspicion of benign infantile seizures associated with mild gastroenteritis (BISMG) despite lack of gastrointestinal symptoms. A small round virus was found. His clinical course followed the same progression as typical BISMG. This begs the question whether it is possible for virus in the stool to cause an asymptomatic gastrointestinal infection with its only clinical manifestation as seizures. We conclude that it may be possible for BISMG to present without gastrointestinal symptoms. As well, BISMG may be an unrecognized cause of apparent life-threatening events and should be considered in the differential diagnosis.

Perinatal Stroke and Apparent Life-Threatening Event: A Case Report

To analyze how the multidisciplinary clinical, biohumoral, instrumental approach to ALTE (Apparent Life Threatening Event) episode may discover cardiovascular disease in the newborn. Introduction: In the first year of life ALTEs concern 0.8% of access to Pediatric Emergency Department. The cause of apparent life-threatening events (ALTEs) in infants reflects a differential diagnosis that includes an array of congenital or acquired disorders. Approximately 10% - 25% of ap-parent life-threatening events may remain unexplained following a thorough evaluation. Case re-port: B. E., a 2-month-old child, in wellbeing, shortly before meal, during sleep, was not responsive to repeated stimulations; he was hypotonic and unresponsive. About 15 minutes later, he pre-sented a normal tone and state of consciousness. Evaluating the referred symptoms, diagnostic protocol for ALTE was started; the Angio-MRI brain performed as second line analysis showed a focal gliotic lesion at left striatal area. The cardiological evaluation with echocardiography detected a pervium foramen ovale (PFO), with minimum shunt left-right direction. At least, biohumoral tests revealed protrombin gene heterozygosis mutation. Conclusion: Apparent Life-Threatening Events are first manifestation of stroke in infant. Discussion: This report discloses how the multidisciplinary clinical approach is essential in ALTE. The exact management of ALTE patients is very important in situations like this, when the concomitant disease is rare. In fact, arterial stroke incidence in children > 28 days of life is estimated between 1.2 and 7.9 cases/100,000 child-ren/year. However, in the last 20 years, we observed an increased incidence of stroke, probably related to two main causes: a greater attention for this disease and a major survival of children with pathology that arrange for stroke thanks to a better prevention. In conclusion, it’s a fundamental multidisciplinary approach even in following months after the events.

The role of central sleep apnea in assessing infants with apparent life-threatening event

Introduction Apparent life-threatening event (ALTE) is not a specific diagnosis characterized by a combination of central or obstructive apnea, color change, marked change in muscle tone and choking or gagging; which frightens and requires an interventions from the observer. Gastroesophageal reflux, metabolic abnormalities, arrhythmia and seizures must be studied as a possible underlying condition that explains the ALTE. The aim of this study is to show our experience with video-polysomnography (VPSG) in children with ALTE. Materials and methods Descriptive study, enrolling all children with ALTE attended at our hospital during the last 4 years. A complete study was performed including VPSG. Results 27 children were hospitalized from 5 days to 23 months of age. They presented medical history of: premature birth (7), gastroesophageal reflux (1), and idiopathic hypercalcemia (1), malformative syndrome (2), apnea of prematurity (1), and previous ALTE (1). The cardiological study showed patent foramen ovale in 13 patients, with normal cardiological study in the rest of children. In 10 infants (37%) gastroesophageal reflux was confirmed by upper gastrointestinal series, none of them had regurgitation previous history; they received treatment with domperidone and ranitidine. In 20 patients the brain neuroimaging had not significant abnormalities. VPSG was performed in 25 patients, with apnea-hypoapnea index (AHI) altered in 21 (84%) cases (AHI:1,2 −70). All patients suffered predominantly central apneas in REM sleep associated with oxygen desaturation. These were not any cases of obstructive apnea or EEG alteration. 19 cases received treatment with caffeine citrate and 21 required home monitor, which was retired when they normalized VPSG. In evolution, all children improved AHI, except 3 cases that developed a transitory deterioration with eventual normal studies. Conclusion The VPSG is a useful method for assessing the characteristic, frequency and evolution of infant apnea with ALTE. In our series, central sleep apnea was the main cause of ALTE, probably related with a neuro-madurative process. This technique allows the detection of cardio-respiratory events, pathological disturbance in sleep architecture and abnormal EEG paroxysm. We consider that VPSG must be included in the routine etiological study of ALTE. Acknowledgement Dres. Quintana, Saez, Paradinas, Lorenzo y Morillo.

An uncommon cause of apparent life-threatening event

An apparent life threatening event (ALTE) in infancy is a common reason for presentation to the emergency department (ED). We report a case of a breast-fed infant who presented with an ALTE secondary to hypocalcemia from undiagnosed rickets. Case Report: A 9-month-old girl was brought to the ED because she stopped breathing. The parents reported that she stopped breathing for more than 20 seconds and was gasping for air. During the event, she became unresponsive and her eyes rolled back. There was a history of cough and nasal congestion with subjective fever for two days. Further questioning revealed that over the last few months, she had had episodes of 'gasping', and 'strange noisy breathing sounds.' Her mother reported an 'odd cough' for several months. The baby had been exclusively breastfed and was noted by her mother to be feeding well. No solid foods had been introduced to the patient. The past medical history was significant for developmental delay. The patient was born full-term via normal spontaneous vaginal delivery. The pregnancy, however, had been complicated by oligohydramnios. The parents reported no family history of vitamin D deficiency, rickets or seizure disorder. A chest radiograph showed flaring of the costochondral junctions consistent with rickets. Her vitamin D 25-0H level was 5 ng/mt, (20-100) and D3 level was less than 5 ng/ml, Conclusion: Hypocalcemia is a difficult to diagnose in infants because there may present with a wide range of non-specific clinical symptoms, or they may be asymptomatic. It is important for the emergency physician to recognize the association of hypocalcemia with ALTE in infants. Rickets is a re-emerging health problem in infants and children. Physicians should therefore maintain a high index of suspicion for hypocalcemia especially in a breast-fed infant. We suggest including serum calcium level as part of the evaluation of ALTE.

The use of fundoplication for prevention of apparent life-threatening events

Objective Gastroesophageal reflux disease (GERD) is cited by many to be a common cause of apparent life-threatening events (ALTEs). However, there are few reports in the literature regarding the surgical treatment of GERD to prevent a recurrent ALTE. Methods A retrospective review of infants undergoing fundoplication between 2000 and 2005 for the prevention of another ALTE was undertaken. Preoperative, operative, and postoperative data as well as follow-up information were collected. Results During the study period, 81 patients underwent fundoplication after presenting with an ALTE. All but 3 patients (96.3%) had been treated with antireflux medication. Moreover, 71 infants (87.7%) were taking antireflux medication at the time of their ALTE. A significant number of infants (77.8%) were hospitalized with a second ALTE before referral for fundoplication. After fundoplication, only 3 patients (3.7%) experienced a recurrent ALTE during the follow-up period; 2 required a second fundoplication and 1 underwent pyloromyotomy. None of these 3 patients have experienced a recurrent ALTE after the second operation. The median follow-up has been 1738 days. Conclusion Our data suggest that among patients who had an ALTE and are found to have GERD, fundoplication appears to be an effective method for preventing recurrent ALTE.

Child abuse by suffocation: A cause of apparent life-threatening events

Despite decades of attention, child maltreatment is a pervasive problem that remains under-recognized (1,2), leaving younger children and infants at great risk of lethal child maltreatment (3). Recurrent intentional suffocation of a child by a caregiver – termed suffocatory abuse – is a particularly deadly form of maltreatment. The present article summarizes the importance of considering suffocatory abuse as a differential diagnostic possibility, especially in infants with apparent life-threatening events (ALTEs) or apparent sudden infant death syndrome (SIDS).

Smaller mandibular size in infants with a history of an apparent life-threatening event

To examine small mandibular size and preference for a hand-to-chin posture as salient characteristics in infants with a history of an apparent life-threatening event (ALTE). This was a prospective case-control study of term infants, from birth to 6 months of age, admitted post-ALTE and matched 1:2 with healthy control infants (age within 2 weeks and weight within 0.5 kg). Infants with confirmed gastroesophageal reflux and congenital anomalies, including severe micrognathia, were excluded. Infants with a history of an ALTE (n = 25) were matched to 47 healthy controls. Infants with a history of an ALTE had mandibular indices (larger index indicates a smaller mandible) that were 3.8 mm greater on the left side (95% CI: 2.0-5.6, P < .001) and 4.2 mm greater on the right side (95% CI: 2.7-5.6, P < .001) adjusting for length and non-white race. Controlling for matching and length, a 1-mm increase in the average mandibular index increased the odds of an ALTE by 62% (OR = 1.62, 95% CI: 1.22-2.44, P < .001). Smaller mandibular size was associated with ALTE, suggesting airway obstruction as a potential cause of ALTE. The association of this characteristic with ALTE also offers the potential for prospective quantification of ALTE risk.

Discharge diagnoses in infants with apparent life-threatening event.

There are various identifiable diseases or conditions that can be associated with an apparent life-threatening event (ALTE) in infancy. The present study was carried out to investigate the etiology of ALTE based on the discharge diagnoses. A protocol for the complete work-up used to examine the cause of ALTE was designed, and was carried out for 69 infants with ALTE. Gastroesophageal reflux disease (GERD) was demonstrated in 38 cases, and chronic gastric volvulus (CGV) was diagnosed in 21 (associated with GERD in 13 infants). Four cases of pertussis and two cases each of sepsis, laryngomalacia, respiratory immaturity, and premature ventricular contractions were found. Others cases presented with pneumonia, meningitis, intussuception, food allergy, epilepsy, and adenoid vegetations. In 12 of the 69 infants with ALTE, no abnormalities were found in any of the studies performed, including two patients with breath-holding spells. In 17 cases, two or more possibly contributing findings were diagnosed. It is important to recognize that gastroesophageal impairments such as GERD or CGV could be responsible for many incidences of ALTE in infancy. The authors recommend a trial be established to investigate the causes of ALTE, including gastroesophageal evaluations in all infants with ALTE.

PH Monitoring in the Distal and Proximal Esophagus in Symptomatic Infants

ABSTRACTBackgroundStandard distal esophageal pH monitoring data are sometimes within normal ranges in children with clinically suspected gastroesophageal reflux disease. Therefore, the authors hypothesized that the amount of acid reflux reaching the proximal esophagus may be greater in some subgroups of patients than in healthy controls or in other subgroups of patients.MethodsThe parameters of 24‐hour pH monitoring in the proximal part of the esophagus were analyzed in 120 symptomatic infants in who the reflux parameters in the lower esophagus were clearly within normal ranges (reflux index &lt; 5.0%). The infants were classified into four patient groups: excessive regurgitation (n = 41); inconsolable crying (n = 31), apparent life‐threatening event (ALTE) (n = 18), and chronic respiratory disorders (n = 30). The control group consisted also of 120 infants. The following parameters were calculated: reflux index, the number of reflux episodes, the number of reflux episodes lasting longer than 5 minutes, the duration of the longest reflux episode, and the acid clearance time (ACT, duration of reflux episodes divided by number of reflux episodes).ResultsThe patients with chronic respiratory disorders were significantly older than the patients in the other groups and the controls. In the distal esophagus, there was no statistically significant difference between the reflux parameters. As could be expected, every parameter was statistically (paired t test, Wilcoxon signed‐rank test) significantly smaller in the proximal than in the distal esophagus, except for the ACT in infants who presented with inconsolable crying. In the proximal esophagus, there was no statistically significant difference between the different patient subgroups or controls, except for the number of reflux episodes in the group with chronic respiratory disorders and the group with inconsolable crying, applying one‐way analysis of variance. As determined by applying the Mann‐Whitney test, the number of reflux episodes in the upper esophagus was significantly higher in the group with chronic respiratory disorders than in the other patient groups and controls. Therefore, the authors' data do not support the hypothesis that reflux reaching the proximal esophagus is a frequent cause of ALTE. However, the data may suggest that the number of reflux episodes reaching the proximal esophagus in children with chronic respiratory disorders and with distal pH monitoring data within normal ranges may be increased. Whether this finding reflects reality or a statistical coincidence, or is influenced by the older age of this patient group, needs further evaluation.ConclusionsIn theory, dual simultaneous esophageal pH monitoring in the distal and proximal esophagus may increase the diagnostic accuracy of pH monitoring in infants. Our results do not support a substantial advantage of a systematic application of this new technique, especially not in infants presenting with ALTE, excessive regurgitation, or inconsolable crying. In the subgroup of patients with chronic respiratory disorders, more data are needed before conclusions can be determined and recommendations can be made.

PH monitoring in the distal and proximal esophagus in symptomatic infants.

Standard distal esophageal pH monitoring data are sometimes within normal ranges in children with clinically suspected gastroesophageal reflux disease. Therefore, the authors hypothesized that the amount of acid reflux reaching the proximal esophagus may be greater in some subgroups of patients than in healthy controls or in other subgroups of patients. The parameters of 24-hour pH monitoring in the proximal part of the esophagus were analyzed in 120 symptomatic infants in who the reflux parameters in the lower esophagus were clearly within normal ranges (reflux index < 5.0%). The infants were classified into four patient groups: excessive regurgitation (n = 41): inconsolable crying (n = 31), apparent life-threatening event (ALTE) (n = 18), and chronic respiratory disorders (n = 30). The control group consisted also of 120 infants. The following parameters were calculated: reflux index, the number of reflux episodes, the number of reflux episodes lasting longer than 5 minutes, the duration of the longest reflux episode, and the acid clearance time (ACT, duration of reflux episodes divided by number of reflux episodes). The patients with chronic respiratory disorders were significantly older than the patients in the other groups and the controls. In the distal esophagus, there was no statistically significant difference between the reflux parameters. As could be expected, every parameter was statistically (paired t test, Wilcoxon signed-rank test) significantly smaller in the proximal than in the distal esophagus, except for the ACT in infants who presented with inconsolable crying. In the proximal esophagus, there was no statistically significant difference between the different patient subgroups or controls, except for the number of reflux episodes in the group with chronic respiratory disorders and the group with inconsolable crying, applying one-way analysis of variance. As determined by applying the Mann-Whitney test, the number of reflux episodes in the upper esophagus was significantly higher in the group with chronic respiratory disorders than in the other patient groups and controls. Therefore, the authors' data do not support the hypothesis that reflux reaching the proximal esophagus is a frequent cause of ALTE. However, the data may suggest that the number of reflux episodes reaching the proximal esophagus in children with chronic respiratory disorders and with distal pH monitoring data within normal ranges may be increased. Whether this finding reflects reality or a statistical coincidence, or is influenced by the older age of this patient group, needs further evaluation. In theory, dual simultaneous esophageal pH monitoring in the distal and proximal esophagus may increase the diagnostic accuracy of pH monitoring in infants. Our results do not support a substantial advantage of a systematic application of this new technique, especially not in infants presenting with ALTE, excessive regurgitation, or inconsolable crying. In the subgroup of patients with chronic respiratory disorders, more data are needed before conclusions can be determined and recommendations can be made.

Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of fatty acid metabolism and typically presents in early childhood as potentially fatal hypoketotic, hypoglycaemic crisis often associated with Reye-like symptoms. Re-investigations of cases of sudden infant death syndrome (SIDS) have revealed in some instances a deficiency of MCAD, suggesting that this metabolic disorder may lead to sudden infant death without prior clinical symptoms. In the present study, we examined 142 infants who had suffered from an apparent life-threatening event (ALTE) or were otherwise considered at risk for SIDS for MCAD deficiency by phenylpropionate loading. In no case excretion of phenylpropionylglycine, the hallmark of MCAD deficiency, was increased. In contrast, 3 out of 55 children with symptoms of metabolic disorders showed increased phenylpropionylglycine excretion, and in all three cases MCAD deficiency was confirmed by DNA analysis. In addition, we investigated 142 cases of sudden unexplained child death and 100 control subjects for the A985G mutation in the MCAD gene which is associated with about 98% of enzyme deficiencies. We found one case of heterozygosity each in the patient and control group. Our data indicate that MCAD deficiency is not a major cause of ALTE and, in agreement with results from similar studies in other countries, its frequency is not increased in children who died of SIDS.