Familial laryngomalacia: A case report

Abstract

This report describes the hereditary occurrence of severe laryngomalacia in three of five siblings of a Mexican-American family. The mother, who experienced respiratory difficulties in the first year of life, may also have been affected. All three affected children required neonatal tracheostomy, and two died of pulmonary complications. Histological studies of tracheal cartilage revealed distinct hypercellularity and histochemical staining abnormalities of the cartilaginous matrix without defects in skeletal cartilage. Although laryngomalacia is not uncommon, this disorder previously has not been documented to occur as a familial trait, nor have distinct abnormalities of cartilage been associated with laryngomalacia. This report suggests that etiologic and pathophysiologic heterogeniety exists for the clinical syndrome of laryngomalacia.

Management of laryngomalacia in children with congenital syndrome: The role of supraglottoplasty

“…To date, the pathophysiology of laryngomalacia is still not fully understood and several factors may contribute to the disease [6,8]. Several anatomic changes of the supraglottis are observed in laryngomalacia [2][3][4].…”

“…Several anatomic changes of the supraglottis are observed in laryngomalacia [2][3][4]. Immaturity of the laryngeal cartilage has been proposed to be a contributing factor [5,6]. Increasing evidence suggests a neurologic etiology: altered sensorimotor integrative function of the larynx leads to neuromuscular hypotonia of the pharyngolaryngeal structures causing supraglottic collapse during inspiration [7].…”

“…It is characterized by a dynamic obstruction of the upper airway due to an inward collapse of supraglottic structures during inspiration. Although several theories have been postulated [2][3][4][5][6][7], the exact etiology of laryngomalacia is not fully understood and different factors may contribute to the disease [6,8], notably gastroesophageal reflux [9][10]. Laryngomalacia typically presents with a moderate to high-pitched fluttering inspiratory stridor being more marked during increased air demands.…”

Does Reflux Have a Causative Role in Laryngomalacia?

“…Histologic examination of laryngeal cartilage has not been possible in most patients with laryngomalacia because of its characteristic benign clinical course. Shulman et al performed a post-mortem evaluation of two tracheal specimens from two related individuals that suffered from a form of familial laryngomalacia that revealed some histologic abnormalities, namely hypercellularity and multiple abnormally enlarged lacunae [15]; however, since these individuals had a rare genetic laryngotracheal abnormality, we cannot use this finding as a basis to conclude that a chondropathy occurs in nonsyndromiclaryngomalacia. In fact, other histologic studies have not identified any cartilaginous abnormalities associated with laryngomalacia [13,16].…”

Achados polissonográficos em crianças portadoras de laringopatias

“…Its cause is still debated. There are many theories proposed to explain its physiopathology, such as disorders in the cartilaginous framework of the larynx and trachea, causing a greater laxity in supraglottic structures, anatomical alterations and neuromuscular immaturity [18][19][20][21] . Back in 1897, Sutherland & Lack 22 proposed an anatomical theory after studying 18 cases of congenital laryngeal obstruction, in which they concluded that the disorder was associated to the immaturity of the children cartilaginous tissue.…”