Apnea and sudden unexpected death in infants with achondroplasia
James Ver Hoeve1984, The Journal of Pediatrics
Sign up for access to the world's latest research
checkGet notified about relevant papers
checkSave papers to use in your research
checkJoin the discussion with peers
checkTrack your impact
Abstract
Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. lhfants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and I year of age. Appropriate intervention, given these previously unrecognized risks, may include cer~'ical restraint, polysomnographic evaluation, and apnea monitoring. (J PEDI,4rR 104:342. 1984
Related papers
Apnea as the sole manifestation of cord compression in achondroplasia
The Journal of Pediatrics, 1984
ACtlONDROPLASIA is an autosomal dominant disorder characterized by inhibition of endochondral bone formation. The base of the skull is affected, but the membranous bones of the skull grow normally. This results in a large calvarium on a small base and spinal stenosis. Hydrocephalus is often present) We describe achondroplasia in two patients with recurrent hypoventilatory syndrome as the sole manifestation of medulloccrvical compression. CASE REPORTS Patient I. This achondroplastic infant was admitted to Riley Children's Hospital at age 9 months for further evaluation of apneic spells. The patient was the product of a term pregnancy in a 29year-old white woman. Delivery was by cesarean section because of breech presentation. The patient had three apneic spells shortly after delivery that spontaneously resolved. No further apneie spells occurred until 15 days of age, when the patient was found cyanotic after awakening from a nap. tte was hospitalized and became apneic four times during the hospitalization. An electroencephalogram showed diffusely slow brain waves, and results of a computed tomographic scan of the head were normal. A sleep EEG yielded unremarkable findings, as did a pneumogram. The patient was discharged to home with an apnea monitor. At different times he was given phenobarbital, ethosuximide, phenytoin, and valproate without a decrease in the frequency of apneie
World Journal of Pediatrics Sleep disordered breathing in children with achondroplasia
Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). Data sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Results: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. Conclusions: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.
A Three-Month-Old Achondroplastic Baby with both Obstructive Apneas and Central Apneas
Journal of Clinical Sleep Medicine, 2013
A 3-month-old infant girl with achondroplasia presented with a 2-month history of snoring without breathing pauses, nasal fl aring, chest retraction, or cyanosis. The baby was born at 38 weeks gestation to a 33-year-old mother via elective cesarean section. Apgar score was 9. The father is achondroplastic. At 6 months gestation, fetal ultrasound was consistent with achondroplasia; prenatal and perinatal history was otherwise unremarkable. Physical exam revealed an alert playful baby with macrocephaly, head circumference of 44 cm (50% percentile achondroplasia chart) 1 ; mid-face hypoplasia; and large anterior and posterior fontanelles. Upper airway was Mallampati IV with 2+ tonsillar enlargement. No excessive palatal arching was noted. Neurologic exam revealed mild hypotonia, lumbar kyphosis, and normal deep tendon refl exes throughout. The remainder of the exam was normal. Computerized tomography (CT) of the head with 3-dimensional reconstruction showed widening of the metopic, coronal, and sagittal sutures, with pat-SUbmISSION & COrreSPONDeNCe INFOrmatION
Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study
Archives of Disease in Childhood, 1998
Aim-Achondroplasia can result in respiratory diYculty in early infancy. The aim of this study was to document lung growth during infancy, together with the cause of any cardiorespiratory and sleep dysfunction. Patients and methods-Seventeen prospectively ascertained infants (14 boys and three girls) with respiratory symptoms starting before 1 year of age underwent clinical, sleep, and lung function studies. Results-Three distinct groups were identified. Group 1 (n = 6) were the least symptomatic and only had obstructive sleep apnoea. Group 2 (n = 6) had obstructive sleep apnoea of muscular aetiology and, neurologically, hydrocephalus and a small foramen magnum were common. Group 3 (n = 5), the most severely aVected group, all developed cor pulmonale, with three deaths occurring as a result of terminal cardiorespiratory failure. All five had obstructive sleep apnoea with a muscular aetiology (a small foramen magnum predominated) with severe or moderately severe gastrooesophageal reflux. Initially, lung function studies found no evidence of restriction or reduced lung volumes standardised according to weight. However, with growth these infants had worsening function, with raised airway resistance and severe reductions in respiratory compliance. Conclusions-These groups appear to be distinct phenotypes with distinct anatomical aetiologies: "relative" adenotonsillar hypertrophy, resulting from a degree of midfacial hypoplasia (group 1); muscular upper airway obstruction along with progressive hydrocephalus, resulting from jugular foramen stenosis (group 2); and muscular upper airway obstruction, but without hydrocephalus, resulting from hypoglossal canal stenosis with or without foramen magnum compression and no jugular foramen stenosis (group 3). The aetiology of these abnormalities is consistent with localised alteration of chondrocranial development: rostral, inter-mediary and caudal in groups 1, 2, and 3, respectively. (Arch Dis Child 1998;79:99-108)
Sleep-disordered breathing in children with achondroplasia
The Journal of Pediatrics, 1998
Our objective was to characterize sleep-disordered breathing in 88 children with achondroplasia aged 1 month to 12.6 years. At the time of their initial polysomnography, five children had previously undergone tracheostomy, and seven children required supplemental oxygen. Initial polysomnography demonstrated a median obstructive apnea index of 0 (range, 0 to 19.2 apneas/hr). The median number of central apneas with desaturation per study was 0.5 (0 to 49), the median oxygen saturation nadir was 91% (50% to 99%), and the median peak end-tidal pCO2 was 47 mm Hg (36 to 87 mm Hg). Forty-two children (47.7%) had abnormal initial study results, usually caused by hypoxemia. Two children with severe obstructive sleep apnea eventually required continuous positive airway pressure therapy, and three additional children required tracheostomies. (1) Children with achondroplasia often have sleep-related respiratory disturbances, primarily hypoxemia. (2) The majority do not have significant obstructive or central apnea; however, a substantial minority are severely affected. (3) Tonsillectomy and adenoidectomy decreases the degree of upper airway obstruction in most but not all children with achondroplasia and obstructive sleep apnea. (4) Restrictive lung disease can present at a young age in children with achondroplasia.
Upper airway resistance in infants at risk for sudden infant death syndrome
The Journal of Pediatrics, 1993
To investigate the relationship between sudden infant death syndrome and upper airway obstruction, we studied 14term infants at a mean age of:11 weeks who had been Identified as being at risk for sudden infant death syndrome on the basis of clinical and family histories and polygraphic monitoring. Respiratory efforts during sleep were investigated by esophageal pressure monitoring (all 14 Infants) and by monitoring of flow with a pneumotachometer (6 infants). During apparently normal sleep, increased respiratory efforts were shown by intermittent increases in the magnitude of the negativity of esophageal pressure. Mild changes in tidal volume occurred occasionally, always at the lowest monitored esophageal pressure of a breath sequence. These tidal volume decreases had no Impact on oxygen saturation but led to a short arousal and decreased respiratory efforts, followed by a return to normal breathing. Occasionally the abnormal increase in upper airway resistance did not lead to an Immediate arousal but instead to a short obstructive apnea that was then followed by an arousal. This investigation indicates the importance of arousal mechanisms in maintaining normal breathing during sleep. Any disruption of the arousal mechanisms during sleep (inclUding sleep fragmentation caused by repetitive arousals) may place these infants with Increased upper airway resistance at risk for obstructive apnea during sleep. (J PEDIATR 1993;122:881-6) The relationship between sudden infant death syndrome and upper airway obstruction during sleep has been questioned for more than 15years. J. 2 In separate studies, infants who died of SIDS or had near-miss SIDS, and siblings of SIDS infants who had apparent life-threatening events but survived past 12 months of age, were shown to have obstructive apnea during sleep.l-" Not more than 9% of SIDS victims have had a previous ALTE.5 Nocturnal poly-
Practical approach to the diagnosis and treatment of apnea of infancy
PubMed, 1990
Twenty-three infants aged 6 days to 9 months, sequentially referred for apnea or apparent life-threatening events (ALTE), were studied. A selective approach consisting of hospitalization, prolonged cardiorespiratory monitoring, and a graduated investigative protocol yielded positive findings in 75% of the subjects. Polysomnographic study and continuous esophageal pH monitoring were found to be the most informative. In addition to other appropriate therapeutic interventions, cardiorespiratory home monitoring was prescribed for four patients. In three nonmonitored subjects apnea recurred. Two infants died, one with homocystinuria complicated by brain hemorrhage and another with a fulminant viral infection. These investigative results and their outcome indicate that in cases of apnea or ALTE in apparently healthy infants, in-patient monitoring and evaluation is of much value. Home monitors should only be recommended in a selected group of patients, and an adequate follow-up and support system is essential.
Sudden infant death while awake
Forensic Science, Medicine, and Pathology, 2008
Epidemiologic data suggest that SIDS is related to the sleep state, but exiguous literature has addressed infants who had been awake at the time of sudden catastrophic deterioration and subsequent death. The aims of this study are to: (1) Report five infants who were awake at the onset of the lethal event, and (2) Discuss potential lethal pathophysiological events that may lead to these circumstances. The demographic and pathologic profiles of these cases are similar to SIDS. Altered responses to severe hypotension, bradycardia, and apnea, perhaps elicited by aspiration and mediated by cerebellar and vestibular structures, might be involved in the pathogenesis of these deaths. Comprehensive medical history review, investigation of the circumstances of death, thorough postmortem examination with ancillary studies, and preservation of tissues for gene testing, are crucial to explaining these deaths. Careful attention should be given to the awake or sleep state immediately prior to the sudden clinical collapse, and death of infants; those who were awake should be reported to enhance understanding of this phenomenon.
Back to sleep" and unexplained death in infants
Sleep, 2004
Investigation of body position in infants with sudden and apparently unexplained death. Determination of the upper airway space of the infants in different positions by computed tomography (CT) scan. Comparison of the CT scan, the body position at death scene, and the autopsy results. Prospective investigation on all infants referred to a specialized center investigating abrupt and apparently unexplained death of infants. Full-term infants with sudden and clinically unexplained death. Four extra infants studied at different postmortem times to verify absence of change in measurement in postmortem CT scan over time. Position of infant when found dead. CT scan of upper airway in 3 positions (prone face down, prone head rotated, supine nose up), presence or absence of upper airway obstruction, level and length of the obstruction, presence or absence of cause of death, and presence or absence of small maxillomandibular complex at autopsy. Twenty-seven children had unexpected crib deaths...
Sudden Infant Death Syndrome from Epidemiology to Pathophysiology
Current Pediatric Reviews, 2007
Related papers
Sleep disordered breathing in achondroplasia Sleep disordered breathing in children with achondroplasia
Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). Data sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Results: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. Conclusions: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit
American Journal of Perinatology Reports
Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highlight the elusive findings of achondroplasia in the premature infant.
Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome
Pediatric Anesthesia, 2007
Achondroplasia can result in respiratory difficulty in early infancy, from anatomical abnormalities such as mid-facial hypoplasia and/or adenotonsillar hypertrophy, leading to obstructive apnea, or to pathophysiological changes occurring in nasopharyngeal or glossal muscle tone, related to neurological abnormalities (foramen magnum and/or hypoglossal canal problems, hydrocephalus), leading to central apnea. More often, the two respiratory components (central and obstructive) are both evident in mixed apnea. Polysomnographic recording should be used during preoperative and postoperative assessment of achondroplastic children and in the subsequent followup to assess the adequacy of continuing home respiratory support, including supplemental oxygen, bilevel positive airway pressure, or assisted ventilation.
Neurological abnormalities in achondroplastic children
The Journal of Pediatrics, 1967
The neurological mani [estations o/achondropIasia are reviewed. Enlargement o[ the head accompanied by mild dilatation of the ventricles is usually present with no other clinical evidence of increased intracranial pressure. Head growth curves parallel the normal slope, although at higher values. Significant hydrocephalus when it occurs is probably due to obstruction o[ cerebrospinal fluid pathways at the level o[ the [oramen magnum and is usually associated with other neurological signs related to cord compression at this level. Mental retardation may be inferred mistakenly in infancy and early childhood because o[ delayed acquisition of motor skills.
Achondroplasia in the First Years of Life – Importance of Early Referral to Pneumology
2021
Introduction - Achondroplasia is the most common bone dysplasia and is associated with extreme, disproportionate shortness of stature. Early care is essential to identify risks and prevent serious sequelae. The American Academy of Pediatrics recommends conducting a polysomnography soon after the diagnosis of achondroplasia. Materials and Methods - A retrospective study of children with achondroplasia referred to the multidisciplinary consultation in a central hospital in the first two years of life, between 2015 and the end of the first semester of 2020. Results - Ten children with achondroplasia were referred. The first evaluation in a pneumology consultation occurred between 3 and 22 months. Four children presented with snoring. The polysomnography was carried out between 5 and 26 months, revealing obstructive sleep apnoea syndrome in seven children (including one with no snoring). The five with moderate/severe obstructive sleep apnoea syndrome were started on non-invasive ventila...
Pulmonary Hypertension in an Infant with Achondroplasia
Pediatric Neurosurgery, 2008
An 18-month-old achondroplastic child presented with respiratory distress and severe pulmonary hypertension which was considered to be due to an atrial septal defect. The septal defect was closed via catheterization with Amplatzer occluder device, but the patient showed only mild to moderate clinical improvement. In addition, sleep monitoring study revealed apneas, oxygen desaturation and CO2 retention; therefore, magnetic resonance imaging of the brain was performed, showing medullary compression by a stenotic foramen magnum. Surgical craniocervical decompression led to an improvement in sleep disturbances and pulmonary hypertension. In conclusion, several factors, among which medullary compression, may be a cause of pulmonary hypertension in achondroplasia patients.
Cervicomedullary compression in young patients with achondroplasia: Value of comprehensive neurologic and respiratory evaluation
The Journal of Pediatrics, 1987
We studied prospectively 26 young patients with achondroplasia to test two hypotheses: that respiratory problems may be the result of occult spinal cord compression, and that achondroplastic patients with cord compression might have occult respiratory abnormalities. Respiratory abnormalities were present in 85%, the majority caused by a primary problem of the pulmonary system, such as small thoracic cage or obstructed airway. Three patients had hypoxemia, recurrent cyanotic spells, and episodes of respiratory distress explainable only by cervicomedullary cord compression; in each patient, respiratory problems were alleviated by decompressive surgery. Another six patients with cervicomedullary compression had, in addition, at least one primary pulmonary cause of respiratory problems. After decompressive surgery the respiratory problems improved in three and were unchanged in three. Reconstructed sagittal CT images proved the most sensitive technique for detecting craniocervical stenosis as a cause of cervicomedullary cord compression, although some degree of stenosis was present in nearly all of the patients.
Developmental Characteristics of Apnea in Infants Who Succumb to Sudden Infant Death Syndrome
American Journal of Respiratory and Critical Care Medicine, 2001
We compared the breathing characteristics of 40 infants who subsequently died of sudden infant death syndrome (SIDS) with those of 607 healthy infants matched for sex and age. The infants were between 2 and 19 wk old at the time of recording. Compared with the control group, the infants who died of SIDS experienced significantly more frequent episodes of obstructive and mixed sleep apnea. The duration of the apneic episodes did not exceed 15 s. Moreover, the SIDS group had a greater proportion of infants with obstructive and mixed apneic episodes than did the control group. In both groups, the frequency of episodes among male infants with apnea was greater than that among female infants. After the age of 9 wk, the proportion of male infants with episodes of obstructive apnea was greater in the SIDS group than in the control group. The frequency of apneic episodes decreased with age. The rate of decrease was significantly greater in the control subjects than in the SIDS group. This finding was made mainly in male infants. The present study provides further indirect evidence for a slower maturation of respiratory control in some infants who ultimately die of SIDS.
Multiple causes of asphyxia in infants at high risk for sudden infant death
Archives of Disease in Childhood, 1983
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.
Surgical treatment for cervicomedullary compression among infants with achondroplasia
Child's Nervous System, 2015
Purpose Achondroplasia is the most common form of dwarfism. Respiratory failure is responsible for most deaths among these children and is often related to cervicomedullary compression (CMC). We present our experience with early cervicomedullary decompression in infants with achondroplasia. Methods Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. Data included presurgical and postsurgical neurological examinations, MRI scans, and sleep study results. Results Ten infants were included. Ages at surgery were 4 to 23 months (12.5±6.88 months). All infants displayed neurological findings prior to surgery, although often subtle. All infants underwent a foramen magnum opening with a wide C1 laminectomy. Following surgery, seven patients (70 %) demonstrated improved neurological status, and one displayed neurological deterioration. Seven patients demonstrated improved sleep quality 1 year after surgery. These patients had a good or improved neurological status following surgery. Preoperative radiological findings included abnormal hyperintense T2 changes in all children (improved following surgery in six children), brainstem distortion in four children (improved in all), and diminished cerebrospinal fluid (CSF) spaces at the level of the foramen magnum in eight children (improved in seven). One child with extensive preoperative T2 changes accompanied by neurological and respiratory decline, deteriorated following surgery, and remains chronically ventilated. Conclusions Infants with achondroplasia are prone to neurological and respiratory symptoms. We believe that early diagnosis and early surgery for decompression of the foramen magnum and C1 lamina can alleviate respiratory symptoms, improve neurological status, and perhaps prevent sudden infant death in this population.
Loading Preview
Sorry, preview is currently unavailable. You can download the paper by clicking the button above.