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.

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.

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.

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.

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.

Cricopharyngeal achalasia in children: botulinum toxin injection as a tool for diagnosis and treatment.

OBJECTIVES/HYPOTHESIS: Characteristics and outcomes of pediatric patients undergoing cricopharyngeus injection with botulinum toxin for the treatment of cricopharyngeal achalasia were reviewed. A parental telephone survey was performed to assess improvement and satisfaction. STUDY DESIGN: Retrospective review of patients who underwent injection of the cricopharyngeus with botulinum toxin for cricopharyngeal achalasia. A prospective survey of postoperative symptoms and parental satisfaction was also performed. METHODS: After institutional review board approval, children with cricopharyngeal achalasia who underwent injection with botulinum toxin were identified. Specific parameters were recorded for each patient. A survey of the parents' satisfaction and subjective improvement was then conducted. RESULTS: Six children were identified with cricopharyngeal achalasia, with an age range of 3 months to 10 years. Symptoms varied and five of the six children required some form of altered nutrition. Preoperative studies varied, and the number of injections ranged from one to three per patient. One child had transient worsening of aspiration. Two children benefited from injections and went on to myotomy, while four children did not require myotomy and their symptoms were treated with injections alone. A parental survey was performed via telephone. All parents were satisfied with the procedure. Three children were symptom-free, and three children still exhibit some dysphagia. CONCLUSIONS: Botulinum toxin injection is a useful tool to help diagnose and treat pediatric cricopharyngeal achalasia. More research is needed to elucidate optimal dosing, frequency of injections, and when to move on to surgical intervention. LEVEL OF EVIDENCE: 4.

Endoscopic cricopharyngeal myotomy for management of cricopharyngeal achalasia (CA) in an 18-month-old child.

A 6-month-old patient presented with dysphagia and failure to thrive. Video fluoroscopic swallow study (VFSS), esophagogastroduodenoscopy, and manometry were diagnostic for CA. A gastrostomy tube was placed at 8 months. Botulinum toxin injection improved symptoms, but within 10 weeks symptoms returned. At 18 months, an uncomplicated endoscopic CPM was performed. A postoperative VFSS demonstrated cricopharyngeal bar resolution. Within 3 months, patient was feeding orally without a G tube. Pediatric CPA treatment options consist of dilation, botox, and transcervical CPM. To our knowledge, this is the youngest patient treated with endoscopic CPM. Intraoperative video and photographs are presented.

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.

Postcricoid vascular abnormalities: hemangiomas, venous malformations, or anatomic variant.

OBJECTIVE: Ten children with pressure-dependent postcricoid masses (PDPCM) previously referred to in the literature as hemangiomas or vascular malformations are presented. We propose these lesions represent an anatomic variant. We review previously reported cases, and report the presentation, diagnosis, and management of the patients in our series, the largest series to date. METHODS: Ten patients, aged five weeks to nine months, were diagnosed, and treated or observed. Of the patients undergoing intervention, one was treated with a gastrostomy tube, fundoplication, and Propranolol therapy; and the other with CHARGE association underwent a tracheotomy. RESULTS: No PDPCMs demonstrated significant interval change in size or appearance, and eight of ten patients did well with observation. CONCLUSION: Based on current information, the majority of PDPCMs likely represent an anatomic variant rather than a hemangioma or vascular malformation. Diagnosis is most readily made with awake flexible fiberoptic laryngoscopy. Because the incidence of synchronous airway pathology is high, direct laryngoscopy and bronchoscopy without routine biopsy is recommended for symptomatic patients. Imaging should be individualized and may be helpful for ambiguous cases. Although numerous treatment modalities have been advocated based on the presumptive diagnosis of a hemangioma, treatment of PDPCMs is not necessary in the majority of cases, as most patients may be safely observed.

The use of botulinum toxin for pediatric cricopharyngeal achalasia.

OBJECTIVES: Cricopharyngeal achalasia is an uncommon cause of feeding difficulties in the pediatric population, and is especially rare in infants. Traditional management options include dilation or open cricopharyngeal myotomy. The use of botulinum toxin has been preliminarily reported for cricopharyngeal achalasia in children as a modality for diagnosis and management. This study describes the use of botulinum toxin as a definitive treatment for pediatric cricopharyngeal achalasia. METHODS: A retrospective analysis was performed of three patients who were diagnosed with cricopharyngeal achalasia and underwent botulinum toxin injections to the cricopharyngeus muscle. The charts were reviewed for etiology, botulinum toxin dosage delivered, length of follow-up, postoperative need for nasogastric tube placement, and swallow studies. RESULTS: A total of 7 botulinum toxin injections into the cricopharyngeus muscle were performed in three infants with primary cricopharyngeal achalasia between April 2006 and February 2011. Mean dosage was 23.4 units per session (range: 10-44 units), or 3.1 U/kg (range: 1.4-5.3 U/kg). Mean interval period between injections was 3.3 months (range: 2.7-4.0 months). Mean follow-up period was 22.1 months (range: 3.4-44.5 months). One patient required hospital readmission after injection for presumed aspiration but recovered without need for surgical intervention. No long-term complications were noted post-operatively. All patients improved clinically and ultimately had their nasogastric feeding tubes removed. CONCLUSIONS: Botulinum toxin appears to be a safe and effective option in the management of primary cricopharyngeal achalasia in children, and may prevent the need for myotomy.

Cricopharyngeal myotomy for the treatment of cricopharyngeal achalasia.

Three cases of cricopharyngeal achalasia are being presented. The preoperative diagnosis was established by a contrast swallow. Cricopharyngeal myotomy was performed in all patients. One child died in the postoperative period because of respiratory failure secondary to aspiration pneumonitis, whereas in the other two, symptoms were relieved, and they remain asymptomatic on follow-up.

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.

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.

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.

Tracheal cartilaginous sleeve with cricoid cartilage involvement in Pfeiffer syndrome.

Pfeiffer syndrome is one of a group of craniosynostosis syndromes in which rare tracheal anomalies have been described. This group of patients have a poor prognosis, and mortality can be related to airway complications and respiratory distress. We report a case of type II Pfeiffer syndrome with tracheal cartilaginous sleeve and cricoid cartilage involvement. We discuss our strategy for the management of the airway of this patient.

Design of a new technique using a free tracheal autologous graft for reconstruction of the cricoid cartilage and trachea.

PURPOSE: We devised a new operative procedure to recreate a supporting framework using a free tracheal autologous graft for cricoidal and tracheal defects. METHODS: We used this new transplantation method to repair the airway defect in five patients who underwent total thyroidectomy with resection of the airway for advanced thyroid cancer. A free graft was taken from the anterior aspect of the trachea and placed over the defect. The surface of the transplanted graft was then surrounded by the adjoining muscle flap. The orifice created by taking the graft was used as a temporary tracheostomy during the early postoperative period. RESULTS: Fiberscopic examinations and computed tomography scans done over 3-7 years postoperatively showed no airway deformity, subglottic stenosis, graft necrosis, or local recurrence in any of the five patients. The tracheal stoma closed spontaneously within 5 months after the operation in three of the five patients. CONCLUSION: The advantages of this procedure are: the free tracheal graft has as much strength as a prosthesis to support the respiratory tract; the autologous graft is biologically compatible; and the procedure can be completed in one surgical field and adopted for primary and secondary repair of the tracheal defect.

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.