Congenital crico-thyroid dysplasia: a comprehensive description.

INTRODUCTION: We describe a first case of human congenital crico-thyroid dysplasia associated to a right sided aortic arch and an aberrant subclavian artery. CASE PRESENTATION: Our patient presented with a two-weeks history of acute dyspnea, and reported hoarseness since his childhood. An urgent tracheotomy was performed, followed by direct laryngoscopy. Endoscopic examination showed a deviation of the dorsoventral axis of the larynx, with an obstructive submucosal swelling the area of the right false cord and aryepiglottic fold. Computed tomography conducted the following day confirmed the crico-thyroid dysplasia, an infected laryngocele, and the presence of a right sided aortic arch and an aberrant subclavian artery. CONCLUSION: The embryological basis of these anomalies is attributed to congenital defects of the development of the fourth and sixth pharyngeal arches. To our knowledge, the congenital crico-thyroid dysplasia has not been previously reported in human. This case underscores the importance of recognizing anatomical variations in laryngeal cartilages, understanding their embryological origins, and potential associated malformations.

The ram sign: detecting previously undiagnosed congenital laryngeal clefts in adults.

OBJECTIVES: We present the clinical characteristics of a case series of adult patients with type III laryngeal clefts according to the classification of Benjamin and Inglis, in an attempt to make practitioners aware of the "ram sign," a clinical finding associated with laryngeal clefts in adults. Laryngeal clefts are uncommon defects that are nearly universally identified during infancy as a result of persistent aspiration and pneumonia. Undiagnosed laryngeal clefts in adults are extremely rare. METHODS: Three type III laryngeal clefts were identified in adults (29, 48, and 60 years of age) from one clinic over an 18-month period. The existing literature features only one type III cleft, to our knowledge. The 60-year-old patient represents the oldest person in the English-language literature to have a newly diagnosed laryngeal cleft. All three cases presented with various degrees of aspiration over an extended period. RESULTS: The computed tomographic imaging and endoscopic findings from these three patients were reviewed. The videolaryngoscopic images demonstrated that the "ram sign"--an endoscopic finding associated with redundant soft tissue overlying the arytenoid cartilages that prolapses into the cleft, creating the appearance of ram's horns--was a consistent and striking feature in all three patients. CONCLUSIONS: Although rare, laryngeal clefts may represent an underdiagnosed entity in the adult population. With increased awareness, they may be identified more frequently as a treatable cause of aspiration and recurrent pneumonia.

A rare case report of an solitary neurofibroma in postcricoid region of hypopharynx.

RATIONALE: Postcricoid neurofibroma is an extremely rare hypopharynx tumor that can be challenging in both diagnosis and treatment. This case sheds light on the possibility of treatment with transoral microsurgery before pursuing open cervical incisions. PATIENT CONCERNS: : A 43-year-old man presented with a four months history of a persistent foreign body sensation and mild dysphagia. Indirect and direct laryngoscopy at admission revealed a round and smooth submucosal mass in the postcricoid region. DIAGNOSIS: A laryngeal enhanced computed tomography and laryngoscopy suggested that the tumor located in hypopharynx, with clear boundary and slightly strengthened edge. A supporting laryngoscopy surgery was performed under general anesthesia and a biopsy confirmed solitary neurofibroma of the postcricoid region. INTERVENTIONS: The tumor was successfully resected en bloc transorally through supporting laryngoscope, and obviated the need for open cervical surgery and tracheostomy. OUTCOMES: The patient recovered well without any intraoperative or postoperative complication and was discharged from hospital 2 days after surgery. There was no recurrence after 6 months follow-up. LESSONS: Postcricoid neurofibroma is an extremely rare hypopharynx tumor that can be diagnostically challenging. To the best of our knowledge, this is the first case reported of solitary neurofibroma originating from the postcricoid region of the hypopharynx and was surgically removed with transoral surgery through supporting laryngoscope.

Unrecognized difficult airway management during anesthesia in two brachycephalic dogs with narrow cricoid cartilage.

Difficulty in airway management during anesthesia was noted in a 10-year-old, castrated, male Pekingese dog and a 13-year-old male French Bulldog. They showed strong resistance during tracheal tube insertion through the subglottic lumen. Therefore, the airway was secured by using a small endotracheal tube or supraglottic airway device. Computed tomography scan revealed a markedly narrower vertical dimension of the cricoid cartilage compared to that seen in common brachycephalic breeds. Posterior glottis was relatively more accessible for translaryngeal intubation in the present cases. Our findings showed that brachycephalic airway syndrome may be associated with narrow cricoid cartilage. To the best of our knowledge, this is the first clinical case report of airway management during anesthesia in dogs with narrow cricoid cartilage.

Laryngeal cleft.

Laryngeal clefts are rare congenital anomalies, first described in 1792 by Richter, that allow communication between the tracheal and esophageal axis. The incidence is 1 in 10,000 to 20,000 births, which represents approximately 1.5% of the laryngeal pathology in children. Laryngeal clefts result from a failure of fusion of the posterior cricoid lamina and development of the tracheoesophageal septum. Recent work has further refined our understanding of this complex development.

[Modified "trap-door" thoracotomy for pediatric patients]. / Toracotomía de "trap-door" modificada en pacientes pediátricos.

INTRODUCTION: Surgical approach of the cervicothoracic junction has been traditionally done by cervicotomy and/or thoracotomy. Nevertheless, this access does not allow a suitable control of vasculonervous structures. Due to this we present our experience with a variation of the "Trap-door" thoracotomy which gives the best access to this area applied to pediatric patients METHODS: We present 4 patients of 2.8 +/- 1.9 years of age treated in our hospital by a cervicothoracotomy transmanubrial approach without clavicular luxation. One patient presented a stage IV cervicothoracic neuroblastoma, 1 patient had a cervicothoracic lymphangioma, one a severe cervicothoracic scoliosis and one a total cricoid atresia associated to an oesophageal atresia type IIIc (Vogt). This surgical approach allowed a perfect control of brachiocefalic and nervous structures as well as a correct visualization of all the cervicothoracic intervertebral foramina. Postoperative pain was controlled by epidural catheters, oral analgesic treatment was introduced in the fifth postoperative day. RESULTS: Complete resection and surgical treatment was possible in all patients, not being necessary the section of any vascular or nervous structure. There were no intraoperatory or postoperative complications. One patient presented a temporary Homer's syndrome. No tumoral recurrence has been noted after a mean follow-up of 2.3 +/- 3.1 years. CONCLUSION. The modified "Trap-door" approach allows a good control of the brachiocephalic structures and a complete visualization of the upper thorax and posterior mediastinum. Due to its low morbidity this access may be very useful since it allows an important vascular control and an excellent surgical field. Our modification of the "Trap-door" approach avoids clavicular luxation and has the advantage of no sequelaes in the functionality of the escapulo-humeral articulation.

A case of adult congenital laryngeal cleft asymptomatic until hypopharynx cancer treatment.

Laryngeal cleft is an anomaly of failed posterior closure of the larynx. Most cases are diagnosed and need treatment early in life due to respiratory and swallowing problems. We report an unusual case of a 66-year-old man with an asymptomatic laryngeal cleft until treatment for hypopharyngeal cancer. During concurrent chemoradiotherapy (CCRT), despite reduced tumor volume, he presented severe dysphagia and dyspnea, followed by severe pneumonia twice. Because CCRT had to be discontinued, a pharyngolaryngectomy was performed for the cancer treatment. The resected specimen showed total removal of the tumor and a total longitudinal cleft of the cricoid cartilage, classified as a type III laryngeal cleft by the Benjamin and Inglis' classification. A review of computed tomography images indicated that the redundant mucosa from bilateral edges closed the separation of the posterior cricoid cartilage and narrowed the laryngeal airway during CCRT. Adult presentations of laryngeal cleft are quite rare with only ten reported cases in English literature; the present case is of the oldest patient. Undiagnosed cases with laryngeal cleft may exist asymptomatically or without severe symptoms. The awareness of this condition may increase its diagnosis as a cause of diseases such as aspiration and recurrent pneumonia even in adult patients.

Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette.

Mutation in ZIC3 (OMIM #306955), a zinc finger transcription factor, causes heterotaxy (situs ambiguus) or isolated congenital heart defects in humans. Mice bearing a null mutation in Zic3 have left-right patterning defects with associated cardiovascular, vertebra/rib, and central nervous system malformations. Although XZic3 is thought to play a critical role in Xenopus neural crest development, no defects in tissues derived from neural crest are apparent in adult Zic3(null) mice. In this study we have characterized the effect of a PGK-neo cassette insertion 5' of the Zic3 locus. The Zic3 transcript in this new allele is up-regulated in ES cells and in E9.0 embryos, but no ectopic expression was detected. Unlike the Zic3(null) mutation in which only 20% of mutant animals survive to adulthood, there was no evidence of excess fetal death caused by the Zic3(neo) allele. Zic3(neo) mutant mice exhibited hemifacial microsomia, asymmetric low set ears, axial skeletal defects, kyphosis and scoliosis; a combination of defects which mimics Goldenhar Syndrome. Some Zic3(neo) mice had evidence of left-right axis patterning defects, but cardiac malformation was much less common than in the Zic3(null) mutants. A six-week old hemizygous mouse was found to have thoraco-cervical ectopia cordis, an extremely rare congenital malformation in humans and for which there is no precedent in a mouse model.

The clinical relevance of the submucosal cricoid cleft.

PURPOSE: Although fairly uncommon and sometimes difficult to diagnose, laryngeal clefts have been well-defined in the literature. The submucosal cleft variant has been described anatomically, but not clinically. We describe a series of patients with a submucosal cricoid cleft variant and its clinical relevance. METHODS: This is a case series of patients presenting with submucosal cricoid. A submucosal cricoid cleft is defined as a dehiscent posterior cricoid plate with an intact mucosal bridge. RESULTS: Eight patients presented during a 4 year period from October 2002 to September 2006. Patient ages ranged from 6 days to 15 years, with a mean age of 40 months. Four patients (50%) had a submucosal cricoid cleft only while four children presented with a laryngotracheal cleft in addition to the submucosal cricoid cleft. Six patients were diagnosed with subglottic stenosis and had tracheotomies. Four patients (50%) failed laryngotracheal reconstruction (LTR) prior to submucosal cricoid cleft diagnosis. Two patients had their submucosal cricoid cleft diagnosed during initial airway reconstruction surgery. Two patients were diagnosed after feeding difficulties. The submucosal cricoid cleft was felt to be an important factor contributing to the failure of previous laryngotracheal reconstruction. Almost all of the patients (7/8) had co-morbidities. Two patients needed revision airway surgery, both successful. Four of the six patients with a tracheostomy have been decannulated. CONCLUSION: Because of the subtle nature of its clinical presentation, submucosal cricoid cleft can be a challenging diagnostic entity, and the results of surgical reconstruction may be compromised if the cleft is undiagnosed.

Cricoid malformation and endolaryngeal submucosal drilling - a possible technique.

Cricoid malformations vary according to their severity and anatomic features. Some of them get a delayed diagnosis in spite of the complex medical care. Objective: To present a case with a laryngeal malformation and our surgery technique. Material, method: A case presentation of a cannulated child, who previously had a heart surgery, with difficult decannulation. RESULTS: The patient was considered to have an acquired subglottic stenosis due to his medical record. A cricoid cartilage malformation was elicited intraoperatively. A submucosal drilling of the redundant cartilage, with a preservation of the covering laryngeal mucosa was performed. Decannulation was possible at 13 days after surgery. Conclusion: Instead of having extensive resection surgery we decided to perform an endolaryngeal submucosal drilling, after laryngofissure, with quick and long lasting success. Laryngeal surgery should always be tailored to the patient needs and the surgeon's preferences.

Tracheal atresia as part of an exceptional combination of malformations.

A case of a premature infant with tracheal atresia together with an exceptional combination of congenital abnormalities that partially corresponds to the TACRD and VACTERL associations is presented. Tracheal atresia was not detectable in the prenatal ultrasound due to lacking of the typical diaphragmatic and pulmonary findings because of the esophago-tracheal fistula, and therefore the resuscitation team was not prepared for this severe airway complication. After prolonged resuscitation efforts were terminated and the newborn expired after birth. Even without typical warning signs physicians have to be aware of tracheal atresia and airway obstruction if VACTERL or TACRD associations are diagnosed.

Congenital cricoid stenosis.

A case of congenital cricoid stenosis in a 9-year-old girl was reported. The stenosis was confirmed by direct laryngoscopy and laryngotracheograms performed through the tracheostoma. The excess cartilaginous tissue was removed under a midline incision of the cricoid cartilage (cricoidplasty). Seventeen cases of cricoid stenosis reported since 1960 were studied and the clinical entity was discussed. On the basis of the embryology of the larynx, the mechanism of origin of this malformation was also discussed. Although cricoid stenosis was a fatal malformation before 1968, it is now a curable disease using an emergency tracheostomy and a cricoidplasty.

Histopathology of congenital subglottic stenosis.

Three patients with congenital subglottic stenosis are presented and whole organ serial-section studies of their larynges are discussed. A superiorly displaced first tracheal ring is observed to form a cartilaginous subglottic stenosis in one. This "trapped first ring" is demonstrated in horizontal, sagittal and coronal planes. Subglottic stenosis is a clinical diagnosis which describes multifarious histopathological forms of narrowing within the subglottic larynx.

Posterior laryngeal clefts: preliminary report of a new surgical procedure using tibial periosteum as an interposition graft.

OBJECTIVE: To present the preliminary results of a new surgical procedure for posterior laryngeal cleft repair. DESIGN: Retrospective study in an academic tertiary care center. METHOD: The study included three male patients (age at surgery, 2, 13, and 14 mo). One presented with severe aspiration and cyanotic attacks, the two others with aspiration and recurrent chest infections. The types of laryngeal clefts included complete cleft of the cricoid with varying degrees of tracheal involvement but not further than the first six tracheal rings. Associated malformations included one VATER syndrome, one esophageal atresia, and one tracheoesophageal fistula. Surgery was performed under general anesthesia with nasotracheal intubation. A vertical anterior laryngofissure was performed. The mucosal margins of the clefts were incised and then repaired in two layers with polyglactin sutures. The original feature of this procedure was the interposition of a small piece of tibial periosteum between the two layers. This fascia graft is known to be strong and resistant in cleft palate surgery. MAIN OUTCOME MEASURE: Clinical and endoscopic follow-up was used for evaluation of results. RESULTS: The three patients had successful laryngeal repair at a mean follow-up of 6 months (range, 4-14 mo). CONCLUSION: The anterior laryngofissure provides a good surgical access to the cleft. The interposition of tibial periosteum allows durability of the cleft repair. A longer follow-up is needed to confirm these preliminary results. A computed tomography scan study and a study on the rabbit are planned in order to evaluate the outcome of these periosteal grafts.

Malformation and stenosis of the cricoid cartilage in association with Larsen's syndrome.

Three patients with the typical features of Larsen's syndrome are described. All three developed severe respiratory symptoms caused by a congenital subglottic stenosis. Tracheotomy and treatment of the stenosis by means of laryngotracheoplasty resulted in complete collapse of the cricoid cartilage and the proximal tracheal skeleton. Lack of rigidity of the laryngeal and tracheal cartilages in patients with Larsen's syndrome could well be responsible for this failure. Surgical treatment consisted of resection of the stenotic and collapsed areas and end-to-end anastomosis. This therapy was eventually successful in all three patients.

Apoptosis in the developing human cricoid cartilage: a pilot study.

Apoptosis is widely recognized as a major phenomenon in normal development. Deficiencies in this process may lead to developmental abnormalities such as congenital subglottic stenosis. We studied apoptosis using in situ end labeling of the 3'-OH ends of fragmented DNA in 5 progressively older, normal, human cricoid cartilage specimens. Results show that apoptosis is a very active process in fetal and neonatal tissue. The process gradually slows with advancing age. In the 4- and 13-year-old specimens, minimal to no apoptosis was seen. We conclude that apoptosis plays a critical role in the intraluminal and extraluminal expansion of the cricoid cartilage.

Congenital subglottic stenosis: the elliptical cricoid cartilage.

Various malformations of the cricoid cartilage produce congenital subglottic stenosis. The elliptical cricoid cartilage first was demonstrated histopathologically in horizontal sections of six postmortem specimens and now has been identified clinically in ten patients. The clinical diagnosis of the elliptical cricoid cartilage, suggested by anteroposterior soft tissue neck films, is confirmed at direct laryngoscopy. Delineation of the precise location, extent, and histopathology of subglottic stenosis provides the basis for rational management.

Laryngeal clefts: a histopathologic study and review.

The histopathologic findings in a case of laryngeal cleft studied by serial sectioning, and a literature review of this clinical entity are presented. The primary micropathologic findings include a cleft deformity of the posterior cricoid lamina, and alterations in muscle differentiation involving the interarytenoid and posterior cricoarytenoid muscles. Possible embryogenic mechanisms are discussed. The clinical picture is characterized by signs and symtpoms of aspiration with airway obstruction, and definitive diagnosis is achieved by endoscopic examination. Treatment consists of surgical repair, although some patients with type 1 laryngeal clefts may be managed on a conservative trial. The need for uniform classification of laryngeal clefts in future reporting is emphasized.

Histopathology of congenital subglottic stenosis.

A precise delineation of each laryngeal abnormality is critical to planning rational therapy. Since congenital cricoid cartilage anomalies are easily overlooked, a systematic approach to their identification is as important as a clear concept of their classification. The purpose of this communication is to present the pathologic findings and classification of congenital cricoid cartilage deformities and to summarize updated information derived by the whole organ macrosection technique. The classification of congenital subglottic stenosis is based on study of the English-language literature and the collection in the Laryngeal Development Laboratory at The Children's Memorial Hospital in Chicago. Twenty-nine specimens with congenital cricoid abnormalities have been identified. Fourteen have an elliptical cricoid cartilage; 12, a laryngeal cleft; 5, a flattened shape: 1, a large anterior lamina; and 3, generalized thickening. Some specimens have more than 1 anomaly. Eight cases of fragmented or distorted cricoid cartilages are thought to be acquired lesions. An anterior submucous cricoid cleft has been identified and is presented for the first time.