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Cureus Mar 2024Neonatal hypotonia presents with low muscle tone and an array of symptoms that vary depending on the etiology. The differential diagnosis for this condition is complex....
Neonatal hypotonia presents with low muscle tone and an array of symptoms that vary depending on the etiology. The differential diagnosis for this condition is complex. It is crucial to exclude life-threatening causes before following a diagnostic algorithm and performing additional tests. Given the wide range of clinical symptoms and etiologies for neonatal hypotonia, rapid genetic testing has the potential to expedite diagnosis, reduce invasive testing such as muscle biopsy, reduce hospital stays, and guide condition management. A four-week-old girl was admitted to the emergency department (ED) with a one-day history of lethargy, poor feeding, congestion, cough, and hypoxemia. Given positive rhino-enterovirus testing and high inflammatory markers, antibiotics were administered. Imaging, venous blood gas, and blood cultures were negative, and the patient was admitted to the pediatric intensive care unit (PICU) for hypoxemia. After speech-language pathology (SLP) and occupational therapy (OT) evaluation, weak orofacial muscles and feeding issues resulted in a nasogastric tube placement. A swallow study revealed decreased pharyngeal contraction and post-swallow liquid residue. Laryngoscopy showed mild laryngomalacia and dysphagia with aspiration. Genetic testing identified an ACTA1 mutation and confirmed nemaline myopathy (NM). The patient's oxygen levels dropped further during sleep, resulting in diagnoses of severe obstructive and moderate-severe central sleep apnea. Treatment included oxygen therapy, SLP, physical therapy, albuterol, and cough assists. After discharge, the patient was frequently re-admitted with chronic respiratory failure and bronchiolitis and later had gastrostomy and tracheostomy tubes inserted. This specific case highlights the importance of implementing a diagnostic algorithm for neonatal hypotonia. It is also important for physicians, especially emergency medicine (EM) providers, to first exclude infection, sepsis, and cardiac and respiratory organ failure before looking into other tests. Then, physicians should evaluate for more rare etiologies. In this patient's case, the hypotonia was due to a rare genetic disease, nemaline myopathy, and a multidisciplinary approach was used for this patient's care.
PubMed: 38659511
DOI: 10.7759/cureus.56866 -
BMC Anesthesiology Apr 2024The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes...
BACKGROUND
The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Up to now, there was only one case report about anesthesia management of patient diagnosed KdVS. It was a 2-year-old girl who experienced an MRI exam under anesthesia.
CASE PRESENTATION
We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS. He had an intellectual disability, characteristic facial dysmorphism, tracheo/laryngomalacia, patent foramen ovale, and cryptorchidism related to KdVS. Due to the complex condition especially the presence of tracheo/laryngomalacia, we took some special measures, including reducing the amount of long-acting opioid, keeping the spontaneous breath, performing a caudal block, and applying the laryngeal mask. But the laryngeal mask was changed to an endotracheal tube because it failed to provide adequate ventilation. The boy experienced mild laryngeal spasm and hypoxia after extubation, but lateral position and etomidate eased his breathing problem and re-intubation was avoided. It is indicated that anesthesia management for patients with orphan disease is a real challenge for all anesthesia providers.
CONCLUSIONS
The Koolen-de Vries syndrome is a relatively new orphan disease involving multiple systems. Keeping spontaneous breath, evaluating airway potency to anesthetics, applying endotracheal tube, and post-extubation lateral or prone position may be helpful for airway management for patient with hypotonia and tracheo/laryngomalacia. KdVS patient needs prolonged post-anesthesia monitoring and/or medication for airway complications.
Topics: Humans; Infant; Male; Abnormalities, Multiple; Anesthesia, General; Chromosome Deletion; Chromosomes, Human, Pair 17; Intellectual Disability; Laryngomalacia; Muscle Hypotonia; Rare Diseases
PubMed: 38614993
DOI: 10.1186/s12871-024-02508-7 -
European Archives of... Jun 2024This study aimed to investigate the role of nap polysomnography (NPSG) in predicting treatment strategies for infants with moderate to severe laryngomalacia and to...
PURPOSE
This study aimed to investigate the role of nap polysomnography (NPSG) in predicting treatment strategies for infants with moderate to severe laryngomalacia and to explore the association between obstructive sleep apnea (OSA) severity, weight gain, and laryngomalacia severity.
METHODS
A retrospective analysis was conducted on infants diagnosed with moderate to severe laryngomalacia who underwent NPSG between January 2019 and June 2023. Clinical variables, NPSG parameters, and treatment decisions were collected. Weight gain rate and its correlation with NPSG indices were assessed. Logistic regression analyses were performed to predict treatment strategies based on NPSG findings.
RESULTS
Of the 39 infants included (median age: 3.3 months), 77% exhibited OSA, with 69% having moderate to severe OSA [apnea-hypopnea index (AHI) > 5/h]. Weight gain rate correlated negatively with indices of OSA severity, including the hypopnea index (HI) and the AHI. In a multiple logistic regression analysis incorporating the severity of OSA (AHI), weight gain rate, and laryngomalacia severity, only AHI predicted the decision for surgical or non-invasive ventilation treatment (OR = 2.1, CI [1.6; 2.8], p ≤ 10). The weight gain rate was predicted (r = 0.28) by the AHI and the presence of retractions of auxiliary inspiratory muscles.
CONCLUSION
This study underscores the importance of NPSG in assessing infants with moderate to severe laryngomalacia. The AHI from NPSG emerged as a potential predictor for treatment decisions and weight gain rate, emphasizing its clinical relevance. These findings advocate incorporating NPSG into the diagnostic and management process for infants with laryngomalacia.
Topics: Humans; Laryngomalacia; Retrospective Studies; Polysomnography; Male; Infant; Female; Sleep Apnea, Obstructive; Severity of Illness Index; Weight Gain
PubMed: 38573510
DOI: 10.1007/s00405-024-08623-y -
Cureus Mar 2024MEGDEL syndrome, a rare autosomal recessive disorder characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, results from...
MEGDEL syndrome, a rare autosomal recessive disorder characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, results from mutations in the SERAC1 gene. This case report explores the clinical presentation, diagnostic challenges, and genetic findings of an 11-year-old boy with MEGDEL syndrome at a tertiary care center in Saudi Arabia. The patient, born to consanguineous parents, presented with developmental delay, cerebral palsy, intellectual disability, and seizures. Diagnostic evaluation at 15 months revealed 3-methylglutaconic aciduria, and subsequent genetic testing through whole exome sequencing confirmed a rare homozygous deletion variant in the SERAC1 gene. The patient exhibited brain atrophy, tracheal stenosis, laryngomalacia, and skeletal abnormalities. The complexity of MEGDEL syndrome manifestations and the challenge of distinguishing it from other metabolic disorders are discussed, emphasizing the significance of genetic testing in confirming the diagnosis. This case underscores the occurrence of MEGDEL syndrome in a child with cerebral palsy, highlighting the importance of a multidisciplinary approach for diagnosis and the need for genetic counseling in consanguineous families. Although the management remains primarily supportive, the report calls for more comprehensive epidemiological studies to determine the prevalence and incidence of MEGDEL syndrome. The findings contribute to the growing understanding of this rare disorder, thus emphasizing the necessity for ongoing research to enhance diagnostic accuracy and management strategies.
PubMed: 38559521
DOI: 10.7759/cureus.55308 -
Children (Basel, Switzerland) Feb 2024The aim of this review is to investigate the state of the art among the association between Obstructive sleep apnea (OSA) and laryngomalacia, analyzing the epidemiology,... (Review)
Review
The aim of this review is to investigate the state of the art among the association between Obstructive sleep apnea (OSA) and laryngomalacia, analyzing the epidemiology, the diagnostic tools, and the possible treatments available to affected patients. Laryngomalacia, characterized by the malacic consistency of the epiglottis with a tendency to collapse during inspiratory acts, producing a characteristic noise known as stridor, is a common condition in infants and particularly in those affected by prematurity, genetic diseases, craniofacial anomalies, and neurological problems. Congenital laryngomalacia, presenting with stridor within the first 15 days of life, is often self-limiting and tends to resolve by 24 months. OSA is not only a consequence of laryngomalacia but also exacerbates and perpetuates the condition. Currently, the treatments reported in the literature are based (i) on medical therapies (including watchful waiting) and (ii) on surgical treatments. Among the surgical techniques, the most described is supraglottoplasty, performed with the use of cold instruments, CO LASER, transoral robotic surgery, or the microdebrider.
PubMed: 38539319
DOI: 10.3390/children11030284 -
Cureus Feb 2024An uncommon form of nasal airway obstruction in a newborn with respiratory distress manifestations that needs prompt surgical correction when medical therapy cannot...
An uncommon form of nasal airway obstruction in a newborn with respiratory distress manifestations that needs prompt surgical correction when medical therapy cannot address the problem adequately. In this case study, two newborns were diagnosed with congenital nasal pyriform aperture stenosis (CNPAS) following a CT paranasal sinuses when the infant demonstrated persistent symptoms of upper airway obstruction. The narrowing of the nasal pyriform aperture, with a mean width of 0.65 cm in these newborns, was insufficient to allow breathing through the nostrils. Bedsides flexible endoscopy examinations revealed laryngomalacia in both of these infants. A supraglottoplasty, surgical nasal dilation, and stenting were performed without requiring a sublabial drill out of the pyriform aperture, allowing total resolution of the initial respiratory symptoms. Thus, a successful nasal enlargement was accomplished. During the post-operative follow-up period, no incurrences were observed. Both patients with CNPAS were successfully treated with nasal dilatation and nasal stenting instead of the traditional pyriform aperture bone removal by a sublabial approach. Despite being a small series, it demonstrates that nasal dilatation and stenting may be considered an alternate procedure in selective CNPAS cases because it lowers the risk of open surgery and presumably offers an effective management option.
PubMed: 38465174
DOI: 10.7759/cureus.53852 -
International Archives of... Jan 2024Laryngomalacia is the most common congenital laryngeal alteration, with spontaneous resolution in most cases. However, in the face of more severe presentations of... (Review)
Review
Laryngomalacia is the most common congenital laryngeal alteration, with spontaneous resolution in most cases. However, in the face of more severe presentations of the disease, it is necessary to perform supraglottoplasty surgery. Studies have been dedicated to researching changes in swallowing in children with laryngomalacia before and after surgical intervention. To identify the prevalence of oropharyngeal dysphagia in children with pre and postsupraglottoplasty laryngomalacia. A search strategy was developed with terms and entreterms to designate a population , exposure , and outcome , adapted to the requirements of the main databases in the health area. The analysis of the records found was performed by two independent examiners and, in the end, 6 articles were included in the study. The articles found enabled a sample of 330 children with laryngomalacia, 311 of whom underwent supraglottoplasty. Among the included studies, 5 were grouped and meta-analyzed. After supraglottoplasty surgery, a 59% reduction in the prevalence of oropharyngeal dysphagia was identified, with high heterogeneity I = 93%. Despite the heterogeneity of the sample, the supraglottoplasty procedure significantly reduces the prevalence of dysphagia in children with laryngomalacia.
PubMed: 38322449
DOI: 10.1055/s-0042-1755309 -
European Respiratory Review : An... Jan 2024The aim of this review is to summarise evidence that became available after publication of the 2017 European Respiratory Society statement on the diagnosis and... (Review)
Review
The aim of this review is to summarise evidence that became available after publication of the 2017 European Respiratory Society statement on the diagnosis and management of obstructive sleep apnoea syndrome (OSAS) in 1- to 23-month-old children. The definition of OSAS in the first 2 years of life should probably differ from that applied in children older than 2 years. An obstructive apnoea-hypopnoea index >5 events·h may be normal in neonates, as obstructive and central sleep apnoeas decline in frequency during infancy in otherwise healthy children and those with symptoms of upper airway obstruction. A combination of dynamic and fixed upper airway obstruction is commonly observed in this age group, and drug-induced sleep endoscopy may be useful in selecting the most appropriate surgical intervention. Adenotonsillectomy can improve nocturnal breathing in infants and young toddlers with OSAS, and isolated adenoidectomy can be efficacious particularly in children under 12 months of age. Laryngomalacia is a common cause of OSAS in young children and supraglottoplasty can provide improvement in children with moderate-to-severe upper airway obstruction. Children who are not candidates for surgery or have persistent OSAS post-operatively can be treated with positive airway pressure (PAP). High-flow nasal cannula may be offered to young children with persistent OSAS following surgery, as a bridge until definitive therapy or if they are PAP intolerant. In conclusion, management of OSAS in the first 2 years of life is unique and requires consideration of comorbidities and clinical presentation along with PSG results for treatment decisions, and a multidisciplinary approach to treatment with medical and otolaryngology teams.
Topics: Infant; Infant, Newborn; Humans; Child, Preschool; Child; Sleep Apnea, Obstructive; Adenoidectomy; Tonsillectomy; Sleep Apnea, Central; Airway Obstruction
PubMed: 38296343
DOI: 10.1183/16000617.0121-2023 -
Children (Basel, Switzerland) Jan 2024To investigate through an international survey the actual clinical application of drug-induced sleep endoscopy (DISE) in pediatric patients with obstructive sleep apnea...
OBJECTIVES
To investigate through an international survey the actual clinical application of drug-induced sleep endoscopy (DISE) in pediatric patients with obstructive sleep apnea (OSA) and to clarify the use, application, clinical indications, and protocol of pediatric DISE.
METHODS
A specific survey about pediatric DISE was initially developed by five international otolaryngologists with expertise in pediatric sleep apnea and drug-induced sleep endoscopy and was later spread to experts in the field of sleep apnea, members of different OSA-related associations.
RESULTS
A total of 101 participants who answered all the survey questions were considered in the study. Sixty-four sleep apnea experts, equivalent to 63.4% of interviewed experts, declared they would perform DISE in pediatric OSA patients. A total of 81.9% of responders agreed to consider the DISE as the first diagnostic step in children with persistent OSA after adenotonsillectomy surgery, whereas 55.4% disagreed with performing DISE at the same time of scheduled adenotonsillectomy surgery to identify other possible sites of collapse. In the case of young patients with residual OSA and only pharyngeal collapse during DISE, 51.8% of experts agreed with performing a velopharyngeal surgery. In this case, 27.7% disagreed and 21.4% were neutral.
CONCLUSION
Pediatric DISE is internationally considered to be a safe and effective procedure for identifying sites of obstruction and collapse after adenotonsillectomy in children with residual OSA. This is also useful in cases of patients with craniofacial malformations, small tonsils, laryngomalacia or Down syndrome to identify the actual site(s) of collapse. Despite this evidence, our survey highlighted that pediatric DISE is not used in different sleep centers.
PubMed: 38255407
DOI: 10.3390/children11010094