Congenital Laryngeal Stridor Research Articles

Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18

To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes. Two patients treated at the Children's Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal karyotyping, and whole exome sequencing (WES). Child 1 had mainly manifested developmental delay, white matter hypoplasia, type 1 diabetes mellitus, and micropenis. He was found to have a chromosomal karyotype of 46,XY,r(18)(p11.21q22.1)[40]/46,XY[7], and CNV-seq results showed that he has a 14.86 Mb deletion at 18p11.21p11.32 and a 14.02 Mb deletion at 18q22.1q23. Child 2 had peculiar facial features, delayed white matter myelination, developmental delay, atrial septal defect, severe sensorineural deafness, and congenital laryngeal stridor. He was found to have a chromosomal karyotype of 46,XY,r(18)(p11.2q23). CNV-seq result proved that he had a 14.86 Mb deletion at 18p11-21p11.32 and a 20.74 Mb deletion at 18q21.32q23. WES has failed to detect single nucleotide variants (SNVs) in either child, but revealed a large segmental deletion at chromosome 18 in both of them. Both children were diagnosed with ring chromosome 18 syndrome. The different size of the deletional fragments in the 18q region and mosaicism of ring chromosome 18 in child 1 may underlay the variation in their clinical phenotypes. The type 1 diabetes mellitus and micropenis noted in both children are novel features for ring chromosome 18 syndrome.

DOZ047.44: Coblation supraglottoplasty for symptomatic laryngomalacia

Abstract Background Laryngomalacia is the commonest cause of congenital laryngeal stridor and supraglottoplasty is the mainstay of surgical treatment for symptomatic laryngomalacia. A variety of techniques used for ablating redundant tissue in the supraglottis. Novel supraglottoplasty surgical technique is needed to achieve better safety and efficacy. The purpose of this study is to evaluate the outcome and effectiveness of supraglottoplasty. Methods A total of 71 patients with laryngomalacia were studied retrospectively. Of 20 patients with symptomatic laryngomalacia underwent supraglottoplasty and 48 patients were treated conservatively. Two patients refused surgical management. Of 80% underwent successive apnea technique, rest under ETGA. The number of patients who underwent supraglottoplasty technique 14 was of coblation, 3 were of cold steel, 1 was of coagulation, 1 was of laser, and 1 was of microdebrider. The patients were kept under observation in intensive care unit (ICU) from 1 to 3 days then in step downward for 3 to 5 days. No child was intubated in the postoperative period. The patient's demographic information, symptoms, comorbidities, type of laryngomalacia, synchronous airway lesions, and final outcomes were examined. Results The common indications for surgery were feeding problems and failure to thrive along with inspiratory stridor. Most common type of laryngomalacia was type 2 (71%). Good weight gain happened for 18 patients, one patient had to be continued on gastrostomy feeding, one patient did not gain weight. Majority of the patients continued to have some amount of noisy breathing and eventually settled in 3 months postoperatively. No perioperative deaths and no long-term complications occurred, 2 patients were readmitted for increasing stridor and treated with nebulizations and improved. Conclusions Supraglottoplasty is an effective and safe treatment for symptomatic laryngomalacia and has the potential to provide better breathing and feeding outcomes. Among all the techniques, in our retrospective study, we found that successive apnea technique and coblator ablation is safe and effective methods in supraglottoplasty because it gives good exposure of supraglottis, no concern of airway fire, less collateral damage. The advantage is easy instrumentation with single wand for ablation, coagulation, and aspiration. Multicenter cooperative studies of comparison between coblator and conventional approaches would lend further evidence-based support for this surgical method.

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.

Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases. Signs of antenatal onset of disease present at birth were common in all PCH1 sub-types except in the homozygous p.D132A/EXOSC3 patients. The PCH1sub-types with early death (between ages 1 day and 17 months), seen in patients with p.G31A/EXOSC3 or SLC25A46 mutations have a SMA type 1-like clinical presentation but with global developmental delay, visual and hearing impairment, with or without microcephaly, nystagmus and optic atrophy. Mutations with milder presentation (homozygous p.D132A/EXOSC3 or VRK1) may display additionally signs of upper motor neuron impairment, dystonia or ataxia and die at age between 5 and 18 years. Other EXOSC3 mutations and EXOSC8 cases are intermediate - SMA type 1-like presentation, spasticity (mostly in EXOSC8) and death between 3 months and 5 years. There is no correlation between neurological onset and duration of life. We add marble-like skin and congenital laryngeal stridor as features of PCH1. We show that imaging signs of cerebellar and pontine hypoplasia may be missing early in infancy. EMG signs of anterior horn neuronopathy may be missing in PCH1 patients with SLC25A46 mutations. Thus, there is considerable phenotypic variability in PCH1, with some cases being more SMA-like, than PCH-like. Detailed clinical evaluation and ethnicity background may guide genetic testing and subsequent genetic counseling.

An unusual clinical course of congenital subglottic stenosis – case report

Aim: To report an unusual clinical course of an infant with congenital laryngeal stridor. Indications for endoscopic examination of airways in such cases have also been discussed. Case report: A full-term male newborn was admitted to the Department of Paediatrics because of the symptoms of acute scrotum as well as because of breathing difficulties and severe hypoxemia. Soon after surgery the child was extubated but breathing difficulties persisted. A loud inspiratory stridor together with rapid respiratory deterioration occurred. The infant was intubated and underwent mechanical ventilation again. In the following period several trials of extubation were repeatedly unsuccessful despite favourable weaning parameters. Just few hours after each trial of extubation symptoms of acute laryngotracheobronchitis were apparent. Because of extubation failure, tube dependency and persistent atypical symptoms of croup unresponsive to standard pharmacotherapy, endoscopic assessment was performed at the age of one month. Concentric central membranous subglottic stenosis was visualized. While preparing for the endoscopic laser ablation treatment, stridor was getting less pronounced. Two weeks later patient underwent endoscopy again and significant regression of subglottic membrane narrowing was documented. Planned laser intervention was canceled. At the age of four months stridor disappeared. Conclusion: Laryngomalacia is the most common cause of congenital laryngeal stridor and endoscopic evaluation is usually not indicated in such cases. However, there are other causes of congenital stridor which are not so common, including congenital subglotttic stenosis. In this case an unusual spontaneous regression of congenital membranous subglottic stenosis was reported.

Progress of laryngeal cartilage dysplasia

Laryngeal cartilage dysplasia, also known as congenital laryngeal cartilage softening or congenital laryngeal stridor, a clinical common laryngeal disease in infant.It is often shown as airflow makes special sound through larynx or tracheal stenosis, also known as laryngeal stridor.Obstruction can be caused by airway lumen or external pressure.Airway obstruction position can be located in the nose, pharynx and larynx and trachea.Laryngeal stridor can be caused by many diseases, such as congenital laryngeal stridor, acute laryngeal, or acute laryngotracheobronchitis, respiratory tract foreign bodies, congenital laryngeal stenosis and laryngeal web, etc.The pathogenesis, pathology, clinical manifestation, diagnosis and treatment are reviewed. Key words: Laryngeal cartilage dysplasia; Laryngeal stridor; Premature infant; Low birth weight

Anesthetic management of congenital laryngeal stridor

Congenital laryngeal stridor is a common disease in infants,presenting dyspnea,stridor during inspiration and three depression sign.We reported a case,a 6-month-old boy who suffered from congenital laryngeal stridor and underwent water chestnut foot orthopaedic surgery,and analyzed anesthetic management. Key words: Congenital laryngeal stridor; Anesthesia management

IgE in Infants with Laryngomalacia: Risk for Asthma

Objective: To evaluate a possible predictive value for developing asthma later on in infants with laryngomalacia by measuring specific immunoglobulin E (IgE) antibodies to food and/or inhalant allergens. Method: Sixty-four children having congenital laryngeal stridor “laryngomalacia” before 18 months of age were followed prospectively until early school age. Serum levels of food and inhalant allergen-specific IgE antibodies were determined at presentation, using the CAP system IgE FEIA (Pharmacia, Uppsala, Sweden). At 6 to 8 years, the children were evaluated for asthma and allergic manifestations. Results: Asthma was present in 24 (37.5%) children at school age. Food-specific IgE antibodies of ≥ 0.35 kU/L were found in 27 (42%) infants, but only specific IgE to wheat and to egg white at the level of ≥ 0.35 kU/L were significantly associated with later asthma. In regard to specific IgE to the mixture of food allergens, the cutoff level of ≥ 0.70 proved to be significant. Inhalant allergen-specific IgE of ≥ 0.35 kU/L was found in 16 cases (25%) and was significantly predictive of asthma. Conclusion: Presence of specific IgE of ≥ 0.35 kU/L to wheat, egg white, or inhalant allergens are predictive of later childhood asthma. Consequently, detection of those specific IgE antibodies in those infants may facilitate the early diagnosis of asthma, especially in cases with no clinically evident atopic manifestations.

Vallecular cyst-revisited

We report a 3 months-old-male infant presented with recurrent cough, noisy breathing and regurgitation of feeds since 15 days of life. Examination revealed inspiratory stridor. CECT showed cystic lesion in base of tongue. After excision it was proved a case of vallecular cyst on histopathology. Although rare, vallecular cyst should be included in the differential diagnosis of congenital laryngeal stridor in neonates. The literature of vallecular cyst is being reviewed in the current article.

Congenital laryngeal anomalies presenting as chronic stridor: A retrospective study of 55 patients

Objectives Congenital laryngeal anomalies are less frequent, but their causes are surprisingly variable. In addition, a variety of synchronous airway lesions as well as comorbidities are accompanied. The objective of this study was to review of patients with congenital laryngeal anomalies presenting as chronic stridor in our experiences. Methods Fifty-five patients, 30 male (54.5%) and 25 female (45.4%), were enrolled in this study, and their hospital records were retrospectively reviewed. Results The most frequent diagnosis was laryngomalacia (36.4%), followed by subglottic stenosis (30.9%) and vocal cord paralysis (29.1%). Twenty-six (47.3%) of the 55 patients had synchronous airway lesions, whereas thirty-one (56.4%) had various comorbidities. Further analysis was performed in patients diagnosed with laryngomalacia, subglottic stenosis, or vocal cord paralysis, which are major causes of congenital laryngeal stridor. The frequency of synchronous airway lesions was not different significantly in these three groups. On the other hand, the frequency of establishment of airway in patients with laryngomalacia was significantly lower compared to those with subglottic stenosis or vocal cord paralysis. Moreover, median duration of the symptoms and the proportion of patients with poor outcome and decease in laryngomalacia were shorter and lower than that in subglottic stenosis or vocal cord paralysis. Conclusions While a variety of congenital airway anomalies were causes of chronic stridor, laryngomalacia was the most frequent diagnosis. Severe condition and progression of symptoms should increase suspicion of the synchronous airway lesions and/or comorbidities, which may be important factors for outcome as well as indication of surgical intervention.

Congenital laryngeal stridor

We reviewed the diagnosis, complications and treatment of congenital laryngeal stridor (CLS), in 97 patients who consulted our clinic between 1991 and 2001. The 97 patients were diagnosed with laryngeal malacia (32%), vocal cord paralysis and laryngeal stenosis (22%), a neoplastic disease like hemagioma and papilloma (11%), or cystic disease (7%). The cases with vocal cord paralysis, laryngeal stenosis or laryngeal cysts were usually diagnosed within 2 months of birth based on severe dyspnea. Two of the 31 cases of laryngeal malacia and 2 of the 22 cases of vocal cord paralysis were associated with neuromuscular disorders. Three patients suffered from vocal cord paralysis complicated by laryngeal stenosis. Thirty-three of the 97 cases required a tracheostomy; these 33 cases included the one case of laryngeal papilloma (100%), 9 of the 10 cases of hemangioma (90%), and 18 of the 24 cases of laryngeal stenosis (75%). Since any disorders of the upper airway can potentially induce stridor, establishing an accurate diagnosis is sometimes difficult when stridor is the only presenting symptom. Hence, information on associated symptoms and the past history of the subject is particularly important for an accurate diagnosis. In addition, decisions regarding the course of treatment course require adequate consideration of possible complications.

Congenital laryngeal stridor (laryngomalacia): etiologic factors and associated disorders.

Congenital laryngeal stridor (CLS) and laryngomalacia are terms used to describe a common disorder characterized by onset, at or soon after birth, of a harsh respiratory sound mostly audible during inspiration. Typically, laryngoscopy reveals flaccid supraglottic structures which tend to prolapse medially toward the glottis during inspiration. Despite reports of this disorder dating back to the mid-19th century, specific etiology and pathogenesis remain nebulous. Analysis of findings in 30 infants indicate that there are often associated manifestations of delayed development in neuromuscular control. Associated findings include gastroesophageal reflux, obstructive and central apnea, hypotonia, failure to thrive, and pneumonitis. A retrospective review of relevant medical literature along with results of laryngeal dissections and analysis of clinical findings in the 30 cases leads to the conclusion that CLS may be a mild form of localized hypotonia rather than an isolated idiopathic type of anatomic abnormality.

Studies on Carbohydrate Metabolism in Infants with Congenital Heart Disease Part 1. Alteration of glucose and lactate metabolism in congenital heart disease

In order to clarify the reasons why growth of infants and children with congenital heart disease is usually delayed, the glucose metabolism of these patients was investigated. Oral glucose tolerance tests were performed on 34 infants with congenital heart disease, 5 infants with congenital laryngeal stridor and 15 normal controls. Intravenous glucose tolerance tests were carried out on 8 infants with congenital heart disease and 5 normal controls, and tolbutamide tolerance tests were also performed on 5 patients. The relationship between lactate and blood gases (PaO2 and PaCO2: acid-base equilibrium) was checked. 1) Infants with congenital heart diseases in cardiac failure and those with laryngeal stridor showed a characteristic blood glucose curve in oral glucose tolerance tests, which suggests the presence of hepatic lesions induced by hypoxia, and poor glucose intake and storage in the liver. 2) The intravenous glucose tolerance test and tolbutamide tolerance test were normal. This suggest that the pancreatic function of B cells is not disturbed. 3) The serum lactate level was elevated in both cyanotic and acyanotic patients with cardiac failure, as compared to acyanotic patients without cardiac failure and normal controls. The levels were not constantly parallel to arterial PO2, HCO3, and pH. However, all cases with high lactate levels of 80 mg/dl died within a week. To sum up, in children with congenital heart disease hepatic lesion induced by cardiac failure may be one of the most important causes of growth retardation. (Acta Paediatr Jpn23(2): 162–171 1981)

Familial laryngeal abductor paralysis and psychomotor retardation.

A family with congenital laryngeal stridor and psychomotor retardation is described. A similar family was studied by Plott in 1964.

A Case of Congenital Cyst of the base of the Tongue

A case of three-month-old female infant who was found to have a cyst on the base of the tongue was presented. She has had slight dyspnea with stridor after birth and has been treated as congenital laryngeal stridor and bronchitis asthmatica. But dyspnea gradually increased. A cyst of the base of the tongue was found under direct laryngoscopy. Cyst was resected under general anesthesia. Dyspnea disappeared immediately after surgery. Four cases of this disease, including our case, are reported in Japan.

Problems In Tracheostomy For Infants

Dyspnea due to the abnormalities of laryngeal region were frequently seen among the new-borns. These could be defined as“congenital laryngeal stridor”or (Laryngo-malacia), causing the dyspnea due to abnormalities of laryngeal orifices or and to weakning of laryngotracheal well.Tracheostomy in such cases often became the cause of “decanulement. ” To date the causes of inciting “decanulement” had been reported by many, however, there seemed to be still other specific factor among those cases of laryngemalacia.With this in mind, we have contemplated an analysis regarding this problems based on our clinical experiences and some experimental methods as well. Firstly, 1) Indications, 2) Operative methods, and 3) Post-operative cares and complications of tracheostomy for these cases such as laryngomalcia. Secondly, experiments for respiratory disturbanses and decanulment were done utilizing plastic models and new-born dogs of 2 to 3 weeks of age. In these dogs, following the artificially induced air way stenosis the negative pressure of subglottic region on inspiratory phase was significantly increased, and the tracheal wall flattened anteroposteriorly because of the negative pressure thus caused. The negative pressure at the subglottic region was approximatly 40 mmHg. The treatment and avoidance of such disturbances due to the tracheostomy and the validity of endotracheal intubation under the circumstances were also discussed.

Congenital subglottic stenosis.

CONGENITAL laryngeal atresia was first described by Rossi in 1826. Since that time, increasing attention has been directed towards laryngeal anomalies as a major cause of asphyxia neonatorum. Reports in the German literature by Schneider, Hempel, and Kneizl of 26 cases of laryngeal atresia are referred to by Smith and Bain. 1 Holinger et al 2 reported 379 cases of congenital laryngeal anomalies, 305 of which were diagnosed as congenital laryngeal stridor or laryngomalacia. Of the remaining 74 cases, the largest group (34) was congenital subglottic stenosis. Other reports 3-6 support the fact that subglottic stenosis occurs more frequently than is realized. Subglottic stenosis as defined in this paper is a developmental defect of the conus elasticus and/or cricoid cartilage. Since 1950, we have had four cases of this congenital anomaly at the University of Minnesota and affiliated hospitals. Report of Cases Case1.—This white male infant was the firstborn

CONGENITAL LARYNGEAL STRIDOR

The hypothesis is proposed that congenital laryngeal stridor results from excessive rehearsal of the laryngeal closing reflex during the aquatic environment of fetal life. An unusual frequency of allergic manifestations in stridorous infants who have been followed to maturity, or in their families suggests a relationship between allergy and congenital laryngeal stridor.

A new approach to the surgical correction of congenital laryngeal stridor.

This discussion applies to the surgical correction of that variety of congenital laryngeal stridor resulting from hypermobility of the epiglottis. This may be the result of defective morphology and/or excessive flexibility from softness of the cartilage. The patient has difficulty breathing from obstruction of the glottis by the epiglottis. This condition is usually intermittent. It is generally a self-terminating disease clearing by the age of 2 years. There are instances of this disease in which clearing failed to occur. There have been deaths resulting when stridor was complicated by an acute or chronic process. Three procedures have been recommended for the treatment of severe cases—tracheotomy, amputation of the epiglottis, and trimming of the edematous aryepiglottic folds. 1-4 Two severe cases were seen which required intervention. These were handled with a new technique not previously described. The simplicity and effectiveness of the treatment warrants its consideration by others. The base of

Congenital laryngeal stridor; a diagnostic study including technique of tracheobronchography in infants.

CHRONIC stridor in infancy is a symptom of great interest to lay people as well as physicians because it is so noticeable. It appears at birth or shortly thereafter and may persist for one or two years. The otolaryngologist is usually called upon to examine the patient early to determine the cause of stridor, which in most instances is a benign disorder termed congenital laryngeal stridor. Other causes of chronic stridor are apt to be serious and, unless recognized early, may not prove amenable to treatment. Most of the causes of noisy breathing can readily be diagnosed by careful examination of the nose, mouth, pharynx, and larynx. Direct laryngoscopy is essential in the diagnosis of the laryngeal causes of stridor but will not reveal the etiology of stridor arising in the trachea or bronchi. In the latter sites, it is necessary to resort to either bronchoscopy or tracheobronchography for further

Neurogenic stridor in infancy.

THE SYMPTOMS of inspiratory laryngeal stridor, as frequently seen in pediatrics, fall into a wide spectrum of diseases that constitute a perplexing of differential diagnosis. At one end of the scale are found those infants who have nothing more than inspiratory stridor which interferes with the usual techniques; the mothers are frequently reassured, without detailed diagnostic studies, that this is due to a minor epiglottic abnormality which, in the course of the first year of life, will correct itself and is commonly called congenital laryngeal stridor. 1 The other end of the spectrum is less well defined and includes those infants with symptoms of laryngeal stridor in association with apnea and cyanosis. Such infants are frequently thought to represent a convulsive disorder or feeding problem or may even be treated for the now generally unacceptable condition of an enlarged thymus. Detailed clinical studies often demonstrate a normal child