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Abstract The diagnosis of congenital anomalies that are rarely encountered and characterized by non-specific symptoms, is often delayed or never made. In some cases, missed diagnoses can potentially lead to significant morbidity or even death. When management of a laryngeal cleft is delayed, fatal respiratory complications can occur, which may ultimately prohibit surgical repair. Therefore, it is important to educate pediatric healthcare providers about the most common presenting signs and symptoms of posterior laryngeal clefts to avoid delay in referral, diagnosis and treatment.  Here we present the case of a full-term female neonate with congenital midline cervical cleft that was not appreciated on fetal ultrasound. The cleft was initially recognized almost immediately after birth, then confirmed via ultrasound prior to discharge from the nursery. Discovery of a blind tract in the soft tissue did not warrant immediate intervention, but surgical repair was still indicated to prevent later contracture and scar formation.

Midline Cervical Cleft:A Case Report and Literature Review

Chloe Armstead, DO1 and Rafael Fonseca, MD2 Department of Pediatrics, University of Texas Medical Branch - Galveston, Texas

1Pediatric Resident, PGY-III; 2Assistant Professor of Pediatrics, Division of Neonatology

Discussion

The overall high mortality rate of laryngeal clefts can mostly be attributed to type III and type IV clefts, and although the case presented is not considered as one of the more severe clefts, it is still important to recognize signs and symptoms in a timely fashion.  Type I clefts are characterized by moderate symptoms, including stridor, weak or hoarse cry, excessive oral secretions, and cough, dyspnea or cyanosis during feeds. In some cases, stridor may be the only sign of a type I cleft in an infant due to the turbulent airflow through the cleft and enhanced medial collapse of the arytenoids. Symptom severity is closely correlated with the degree of inferior cleft extension, evident by earlier presentation and signs warranting emergent intervention. Type II and III clefts often present with more serious symptoms such as aspiration and recurrent pneumonia. Type IV clefts are characterized by the early onset of respiratory distress, and encounter difficulty maintaining adequate ventilation, therefore yielding a less favorable prognosis.

Surgical repair is not always warranted but should be considered in a symptomatic infant with recurrent aspiration episodes or failure to thrive that persists after conservative measures have been implemented. Clinicians caring for patients with a history of laryngeal cleft repair should monitor for possible signs of surgical failure in order to achieve prompt detection and subsequent repair. They should also monitor for signs of treatment failure in patients managed with conservative measures in order to determine if or when more invasive procedures are warranted.

IntroductionLaryngeal cleft is a rare congenital anomaly in which an abnormal communication exists between the airway and the esophagus. The most widely accepted explanation for its development is a failure of the posterior aspect of the larynx to fuse normally during development. The overall incidence of laryngeal clefts is 1 in 10,000 to 20,000 live births. Although most cases are sporadic, an autosomal-dominant inheritance pattern has been observed.  The age at the time of diagnosis is generally dependent on the type of cleft and severity of symptoms. There are 4 different types of laryngeal clefts categorized by the extent of clefting, the latter of which is the most severe secondary to more extensive inferior involvement. The gold standard of diagnosis and severity assessment of laryngeal clefts is suspension laryngoscopy and palpation of the interarytenoid area. Particularly, the absence or atrophy of the interarytenoid muscle confirms the endoscopic diagnosis of type I laryngeal clefts.  The goal of therapy is to prevent respiratory compromise from aspiration and gastroesophageal reflux. Type I clefts typically respond to conservative management alone, but close follow up is indicated to ensure prompt surgical intervention in those patients that ultimately require surgical repair.

Case Report

ConclusionsLaryngeal clefts are not encountered commonly, but it is important to consider them in the list of differential diagnoses, especially when more common etiologies such as tracheoesophageal fistula have been ruled out.

When primary pediatricians are equipped to recognize the signs and symptoms, they can prevent negative outcomes and thereby decrease the morbidity of this condition.

References

1. Williams G, Lee E, Casey A, Haver K, Buonomo C, Zurakowski D, Rahbar R. Chest radiographic and CT evaluation of lung abnormalities in pediatric patients with laryngeal cleft. Pediatric Pulmonology. 2011.

2. Cohen M, Zhuang L, Simons J, Chi D, Maguire R, Mehta D. Injection laryngoplasty for type 1 laryngeal cleft. Otolaryngol Head and Neck Surgery. 2011;144(5):789-793.

3. Pezzettigotta SM, Leboulanger N, Roger G, Denoyelle F, Garabe´dian EN. Laryngeal

cleft. Otolaryngol Clin North Am. 2008;41(5):913-933.4. Broomfield SJ, Bruce IA, Rothera MP. Primary

endoscopic repair of intermediate laryngeal clefts. J Laryngol Otol. 2011;125:513-516.

5. Chien W, Ashland J, Haver K, Hardy SC, Curren P, Hartnick CJ. Type 1 laryngeal cleft: establishing a functional diagnostic and management algorithm. Int J Pediatr Otorhinolaryngol. 2006;70:2073-2079.

6. Watters K, Russell J. Diagnosis and management of type 1 laryngeal cleft. Int J Pediatr Otorhinolaryngol. 2003;67:591-596.

2012 Texas Pediatric Society Electronic Poster Contest

The patient was a 3435 gram appropriate for gestational age infant delivered at term by cesarean section to a 30 year old primigravid female with negative serologies and laboratory result for group B streptococcal (GBS) disease. The pregnancy was complicated by uncontrolled diabetes mellitus type II treated with glipizide and insulin. Apgars were 8 at 1 minute and 9 at 5 minutes. On exam shortly after birth, she was found to have a median fissure composed of erythematous skin tissue and a small fistulous tract near the base of the anterior neck (See Figure 1 and Figure 2). The remainder of the physical exam was unremarkable. While in the nursery, there was no drainage noted out of the midline deformity. She was never in any respiratory distress, and was able to tolerate feeding by mouth.

Figure 1:

ENT was consulted for evaluation of the neck deformity prior to discharge. An ultrasound was obtained which a radiologist reported as showing a small 7 x 6 mm sized echogenic lesion with few speckled hyperechoic areas seen in the midline anterior neck located in the deep subcutaneous soft tissue plane just anterior to the isthmus of the thyroid gland and inferior to the thyroid cartilage. The lesion showed minimal color flow on Doppler, but no track from the lesion superficially. Based upon physical exam and imaging findings revealing a blind tract in the soft tissue without any internal communication, immediate surgical repair was not deemed necessary. Correction of the deformity was recommended eventually, but in a timely manner, in order to prevent contracture and scar formation.

The patient was seen in ENT clinic at 1 month age for the family to discuss surgical options. Mother reported drainage from the sinus opening that had been occurring intermittently during the preceding 4 week time period, but no signs of acute infection. However, the infant had been feeding well without leakage of milk through the cleft during feeds. Following ENT consultation, the patient was referred to plastic surgery for closure of the defect via Z-plasty, a reconstructive technique to optimize the aesthetic and functional appearance of scars.

Neck in extended position

Figure 2:

Close up view of cleft