Type 2 laryngeal cleft associated with OpitzG/BBB syndrome

García-Muro, Cristina; Sáenz-Moreno, Isabel; Gómez-Sáez, Fernando; Navazo-Eguia, Ana
doi:10.1016/j.otoeng.2021.05.001
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Case study</span><p id="par0005" class="elsevierStylePara elsevierViewall">We present the case of a 4-year-old patient with stridor and severe difficulty in breathing&#44; who required admission to a Paediatric ICU and invasive ventilation&#46; Bronchoscopy examination revealed a type 2 laryngeal image according to the Benjamin Inglis classification &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41; &#40;Appendix A&#44; Video 1 of additional material&#41;&#46; Endoscopic correction was performed with reconstruction of the cleft by suture in both planes &#40;oesophageal and laryngotracheal&#41;&#44; with interposition of fascial muscle lamina from the sternocleidomastoid muscle between both lines of suture&#46; A repeat intervention was required after 15 days due to a new episode of stridor and respiratory difficulty due to obstruction of the airway by redundant inter-arytenoid tissue&#46; This was resolved by diode laser photocoagulation of the oesophageal mucus swelling&#44; with good subsequent evolution&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">The following aspects stand out within the clinical history of our patient&#58; diagnosis at one month of life of laryngotracheomalacia by nasofibroscopy&#44; without other complications&#46; There were also hypospadias&#44; cryptorchidy and umbilical hernia&#46; He was diagnosed persistent arterial ductus&#44; which closed spontaneously at one year of life&#44; and he required monitoring by the Neuropaediatric Unit due to hypotonia at breast feeding age&#44; as well as having a peculiar phenotype with hypertelorism and left ptosis&#46; Given all of the said factors&#44; and following the diagnosis of laryngeal cleft&#44; the suspicion of Opitz G&#47;BBB syndrome was established&#44; and it was confirmed by the finding of the hemizygotic c&#46;346A &#62;T mutation in the MID1 gene&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Discussion</span><p id="par0015" class="elsevierStylePara elsevierViewall">Laryngeal clefts &#40;LC&#41; are rare congenital anomalies of the airways and digestive tract&#44; with an incidence of 1&#47;10&#44;000&#8211;20&#44;000 live new births&#44; with a slight predominance of the male sex&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> They consist of the incomplete separation between the oesophagus and the airway from the start of the larynx&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">LC is a rare pathology that is caused by an incomplete formation of the tracheoesophageal septum during embryonic development&#46; Depending on the severity of this defect&#44; different anomalies may be produced such as an isolated laryngeal cleft&#44; a tracheoesophageal fistula or oesophageal atresia&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">Clinical manifestations vary depending on the depth of the LC&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> There are several different classifications of laryngeal clefts&#44; of which the most widely used is the one by Benjamin-Inglis&#44;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;5</span></a> which differentiates 4 types of laryngeal cleft according to their extension&#46; Types 1 and 2 usually present with mild respiratory symptoms and difficulty in eating&#44; with frequent aspirations&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;3</span></a> It is striking that the patient in the case described&#44; with type 2 LC&#44; had no respiratory symptoms during the first years of life&#44; and commenced with an episode of severe respiratory difficulty at the age of 4 years&#46; Types 3 and 4 are more severe forms&#44; with a more extensive communication between the oesophagus and the trachea&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Symptoms commence in these forms in the neonatal period&#44; with severe respiratory alterations&#44;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4&#44;6</span></a> and they generally require early bronchoscopy due to episodes of apnoea and hypoxia&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The diagnostic method of choice is direct laryngoscopy&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> It is important to take this pathology into account in the differential diagnosis of children with stridor&#44; recurring respiratory infections and alterations in deglutition&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;6</span></a> Bronchoscopy makes it possible to classify and describe the extension of the defect&#44; and it was the key to diagnosis in the case described&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">The treatment of LC is medical as well as surgical&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In medical terms&#44; it is fundamental to prevent pulmonary complications associated with aspiration episodes&#44; ensuring appropriate nutrition and using thickeners when this is necessary&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;7</span></a> It is also important to treat other comorbidities &#40;gastric-oesophageal reflux&#44; bronchial hyper-reactivity or food allergies&#44; etc&#46;&#41; which may affect the airway and digestive tract&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;4</span></a> Medical treatment is especially important in type 1 LC&#44; given that some authors state that appropriate medical treatment in these cases may delay or avoid the need for surgical repair&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a> For surgical treatment&#44; the access approach will depend on the type of cleft to be treated&#46; In types 1 and 2 endoscopic repair of the laryngeal defect is preferred&#44; reserving open surgery for types 3 and 4&#44; together with those cases in which endoscopic technique was unsuccessful or failed&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Although the majority of LC cases are isolated&#44; they may also be associated with other congenital alterations&#44; of which the most common are midline defects &#40;cardiac&#44; genital-urinary or gastrointestinal anomalies&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> The presence of a LC in association with other defects should make us consider certain specific syndromes&#44; as it has been associated with the CHARGE&#44; Pallister-Hall&#44; VACTERL and Opitz G&#47;BBB syndromes&#44; as it was in the case described&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Given that our patient had several congenital anomalies associated with LC&#44; a genetic study was undertaken which finally confirmed the diagnosis of Opitz-G&#47;BBB syndrome&#46; This syndrome was described for the first time by Opitz in 1969&#44;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> and up to 30&#37; of the patients affected have a LC&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> The majority of the anomalies associated with this syndrome also affect the midline &#40;hypertelorism&#44; hypospadias&#44; cardiac alterations&#44; cleft palate &#8230;&#41; suggesting that the mutation mainly affects morphogenic processes at this level&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9&#44;10</span></a> There are two clinically indistinguishable genetic subtypes of the Opitz-G&#47;BBB syndrome&#58; one variant linked to chromosome X and another dominant autosomal variant&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> The first of these variants is the most common&#44; even though its frequency in the population is extremely low &#40;1&#47;100&#44;000 new-born babies&#41;&#44; and it is associated with mutations in the MID1 &#40;Xp22&#41; gene&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> The c&#46;346A &#62;T mutation&#44; which was found in our case&#44; has not been described beforehand in databases&#46; Nevertheless&#44; and given its nature&#44; it is considered to be pathological and able in itself to explain the Opitz-G&#47;BBB phenotype&#46; As this syndrome is linked to chromosome X&#44; only males develop this disease&#46; Carrier women usually have hypertelorism as the sole manifestation&#44; and the mother of the patient had this characteristic&#46; However&#44; genetic diagnosis of the parents was not performed as the family refused this&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">To conclude&#44; we should underline that LC are a rare anomaly which requires a high level of suspicion for diagnosis&#44; especially in types 1 and 2&#44; as they have symptoms which may often be confused with other diseases&#46; Moreover&#44; given that this pathology is often associated with certain syndromes&#44; a genetic study should be considered in patients with other associated anomalies&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Authorship &#47;collaborators</span><p id="par0055" class="elsevierStylePara elsevierViewall">All of the authors express their agreement with the work produced and state that they actively collaborated in preparing the same&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Conflict of interests</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors have no conflict of interests to declare&#46;</p></span></span>"
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