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Novel airway findings in a patient with 1p36 deletion syndrome
International Journal of Pediatric Otorhinolaryngology 78 (2014) 157–158
Contents lists available at ScienceDirect
International Journal of Pediatric Otorhinolaryngology journal homepage: www.elsevier.com/locate/ijporl
Case Report
Novel airway findings in a patient with 1p36 deletion syndrome Geoffrey R. Ferril a,*, Henry P. Barham a, Jeremy D. Prager a,b a b
Department of Otolaryngology-Head and Neck Surgery, University of Colorado, Aurora, CO, United States Department of Pediatric Otolaryngology, Children’s Hospital Colorado, Aurora, CO, United States
A R T I C L E I N F O
A B S T R A C T
Article history: Received 29 April 2013 Received in revised form 13 August 2013 Accepted 15 August 2013 Available online 14 November 2013
1p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. There has been no report of associated airway anomalies with this syndrome. We present here a case report and literature review. Prenatally, amniocentesis for chromosomal analysis was performed on our patient, with results consistent with 1p36 deletion syndrome. Respiratory distress and unsuccessful attempts at intubation prompted transfer to Children’s Hospital of Colorado. Microlaryngoscopy was subsequently performed, revealing a persistent buccopharyngeal membrane and unidentifiable larynx. Emergent tracheostomy was then performed to secure the airway. Airway anomalies may be associated with 1p36 deletion syndrome. Published by Elsevier Ireland Ltd.
Keywords: 1p36 deletion syndrome Airway
1. Introduction
2. Case presentation
The first described case report of 1p36 deletion was in 1981 in a 4 year old female with severe mental retardation and multiple congenital anomalies [1]. Since that time, several studies have further described this syndrome, including diagnosis, clinical features, and incidence. 1p36 deletion syndrome is the most common terminal deletion observed in humans, occurring in 1 in 5000 live births [2]. Phenotypic features include mental retardation, developmental delay, hearing impairment, seizures, growth impairment, hypotonia, and cardiac defects. The syndrome is also characterized by several distinct dysmorphic features, including large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and pointed chin [1]. Several rare anomalies have been reported to occur with this syndrome, such as intestinal malrotation and annular pancrease and congenital fiber type disproportion (CFTD) myopathy [3,4]. To date, upper aerodigestive tract anomalies have not been associated with 1p36 deletion. We present a case report of a patient with 1p36 deletion who exhibited acute respiratory distress shortly after birth and was found to have upper aerodigestive tract anomalies.
The patient was born at 37 weeks 6 days via spontaneous vaginal delivery. Poor fetal growth and suspected cardiopulmonary anomalies identified on ultrasonography prompted a genetic amniocentesis for chromosomal microarray analysis, revealing a microdeletion on the short arm of chromosome 1, del1p36.331p36.32, and a duplication on the long arm of the same chromosome, dup1q44. Immediately following delivery, the patient was found to exhibit acute oxygen desaturations and bradycardia, with audible stridor and stertor. Respiratory status was positional. A direct laryngoscopy performed in the neonatal intensive care unit (NICU) yielded no visualization of the larynx, and an attempt at orotracheal intubation was aborted. The patient was then transferred to Children’s Hospital Colorado for further care with successful ventilation via bag mask en route. Given the respiratory difficulties and unsuccessful attempt at orotracheal intubation in the NICU, Otolaryngology was consulted for airway evaluation. Based on the obvious dysmorphia and respiratory distress, the patient was taken to the operating room for a microlaryngoscopy and bronchoscopy with possible surgical airway. 3. Findings
* Corresponding author at: Department of Otolaryngology-Head and Neck Surgery, University of Colorado, 12631 E. 17th Avenue, B205, United States. Tel.: +1 303 724 1957; fax: +1 303 724 1961. E-mail address: [email protected] (G.R. Ferril). 0165-5876/$ – see front matter . Published by Elsevier Ireland Ltd. http://dx.doi.org/10.1016/j.ijporl.2013.08.041
Direct and microlaryngoscopy revealed the presence of a buccopharyngeal membrane and clefted soft palate. The tongue appeared to be trapped in the posterior oropharynx and hypopharynx by the membrane, precluding visualization of the
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G.R. Ferril et al. / International Journal of Pediatric Otorhinolaryngology 78 (2014) 157–158
was only possible with the advancement of a telescope under the epiglottis. 4. Discussion
Fig. 1. An endoscopic view of the oropharynx revealing the buccopharyngeal membranes laterally with the tongue tethered behind the membranes, precluding visualization of the larynx. A nasogastric tube can be visualized posteriorly.
1p36 deletion syndrome is a relatively common genetic anomaly that has gained more attention in the literature recently due in part to improvements in identification and characterization of specific genetic alterations. Although it has been shown to exhibit a wide range of phenotypic presentations, several characteristic findings have been well-described, including neurologic, audiologic, cardiopulmonary, and muskuloskeletal defects, as well as dysmorphic craniofacial features. To our knowledge, no upper airway anomalies have been associated with this syndrome. In the patient described here, two specific genetic abnormalities, consisting of both a deletion on the short arm and a duplication on the long arm of chromosome 1, were identified. Pulmonary atresia, VSD, dysmorphic craniofacial features, and neurologic deficits, which ultimately led to the patient’s demise, were present in this patient, in addition to the airway findings of persistent buccopharyngeal membranes, retrognathia, and small laryngeal structures. Upper airway anomalies have not been associated with either of the above genotypes. We present this case to describe the upper aerodigestive tract findings and associated management rendered in order that this information be included in the potential clinical findings and care of patients with this syndrome. 5. Conclusion
Fig. 2. An endoscopic view of the hypopharynx allowing visualization of the esophageal introitus posteriorly with associated nasogastric tube and the epiglottis obscuring the view of the laryngeal introitus.
laryngeal introitus and true vocal folds (Figs. 1 and 2). Because of these findings and the desire to avoid edema in this tenuous airway, the decision was made to perform a tracheostomy to obtain a secure airway. The patient was ventilated with a laryngeal mask airway during tracheostomy. The trachea below the laryngeal cartilage was noted to be normal in appearance. Repeat microlaryngoscopy and bronchoscopy and a tracheostomy tube change were performed at day of life 8. The presence of a stable and secure allowed a more thorough examination, and the laryngeal introitus and true vocal folds were visualized. Findings were significant for retrognathia, glossoptosis, and an anterior and small larynx. Visualization of the true vocal cords
Appropriate diagnosis and treatment of 1p36 deletion syndrome requires chromosomal analysis and identification of associated abnormalities, which may include airway malformations leading to respiratory compromise. Airway anomalies manifesting as difficult intubation or critical airway should be considered in the list of potential manifestations of 1p36 deletion syndrome, and prenatal ultrasonography may be helpful in identifying and preparing for management of these anomalies. References [1] M. Gajecka, K.L. Mackay, L.G. Shaffer, Monosomy 1p36 deletion syndrome, Am. J. Med. Genet. Part C, Semin. Med. Genet. 145C (2007) 346–356. , http://dx.doi.org/ 10.1002/ajmg.c.30154. [2] H.A. Heilstedt, et al., Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome, Am. J. Hum. Genet. 72 (2003) 1200–1212. , http://dx.doi.org/10.1086/375179. [3] K. Minami, et al., 1p36 deletion syndrome with intestinal malrotation and annular pancreas, Eur. J. Pediatr. 164 (2005) 193–194. , http://dx.doi.org/10.1007/s00431004-1581-z. [4] N. Okamoto, et al., A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy, J. Hum. Genet. 47 (2002) 556–559. , http://dx.doi.org/ 10.1007/s100380200085.
Contents lists available at ScienceDirect
International Journal of Pediatric Otorhinolaryngology journal homepage: www.elsevier.com/locate/ijporl
Case Report
Novel airway findings in a patient with 1p36 deletion syndrome Geoffrey R. Ferril a,*, Henry P. Barham a, Jeremy D. Prager a,b a b
Department of Otolaryngology-Head and Neck Surgery, University of Colorado, Aurora, CO, United States Department of Pediatric Otolaryngology, Children’s Hospital Colorado, Aurora, CO, United States
A R T I C L E I N F O
A B S T R A C T
Article history: Received 29 April 2013 Received in revised form 13 August 2013 Accepted 15 August 2013 Available online 14 November 2013
1p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. There has been no report of associated airway anomalies with this syndrome. We present here a case report and literature review. Prenatally, amniocentesis for chromosomal analysis was performed on our patient, with results consistent with 1p36 deletion syndrome. Respiratory distress and unsuccessful attempts at intubation prompted transfer to Children’s Hospital of Colorado. Microlaryngoscopy was subsequently performed, revealing a persistent buccopharyngeal membrane and unidentifiable larynx. Emergent tracheostomy was then performed to secure the airway. Airway anomalies may be associated with 1p36 deletion syndrome. Published by Elsevier Ireland Ltd.
Keywords: 1p36 deletion syndrome Airway
1. Introduction
2. Case presentation
The first described case report of 1p36 deletion was in 1981 in a 4 year old female with severe mental retardation and multiple congenital anomalies [1]. Since that time, several studies have further described this syndrome, including diagnosis, clinical features, and incidence. 1p36 deletion syndrome is the most common terminal deletion observed in humans, occurring in 1 in 5000 live births [2]. Phenotypic features include mental retardation, developmental delay, hearing impairment, seizures, growth impairment, hypotonia, and cardiac defects. The syndrome is also characterized by several distinct dysmorphic features, including large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and pointed chin [1]. Several rare anomalies have been reported to occur with this syndrome, such as intestinal malrotation and annular pancrease and congenital fiber type disproportion (CFTD) myopathy [3,4]. To date, upper aerodigestive tract anomalies have not been associated with 1p36 deletion. We present a case report of a patient with 1p36 deletion who exhibited acute respiratory distress shortly after birth and was found to have upper aerodigestive tract anomalies.
The patient was born at 37 weeks 6 days via spontaneous vaginal delivery. Poor fetal growth and suspected cardiopulmonary anomalies identified on ultrasonography prompted a genetic amniocentesis for chromosomal microarray analysis, revealing a microdeletion on the short arm of chromosome 1, del1p36.331p36.32, and a duplication on the long arm of the same chromosome, dup1q44. Immediately following delivery, the patient was found to exhibit acute oxygen desaturations and bradycardia, with audible stridor and stertor. Respiratory status was positional. A direct laryngoscopy performed in the neonatal intensive care unit (NICU) yielded no visualization of the larynx, and an attempt at orotracheal intubation was aborted. The patient was then transferred to Children’s Hospital Colorado for further care with successful ventilation via bag mask en route. Given the respiratory difficulties and unsuccessful attempt at orotracheal intubation in the NICU, Otolaryngology was consulted for airway evaluation. Based on the obvious dysmorphia and respiratory distress, the patient was taken to the operating room for a microlaryngoscopy and bronchoscopy with possible surgical airway. 3. Findings
* Corresponding author at: Department of Otolaryngology-Head and Neck Surgery, University of Colorado, 12631 E. 17th Avenue, B205, United States. Tel.: +1 303 724 1957; fax: +1 303 724 1961. E-mail address: [email protected] (G.R. Ferril). 0165-5876/$ – see front matter . Published by Elsevier Ireland Ltd. http://dx.doi.org/10.1016/j.ijporl.2013.08.041
Direct and microlaryngoscopy revealed the presence of a buccopharyngeal membrane and clefted soft palate. The tongue appeared to be trapped in the posterior oropharynx and hypopharynx by the membrane, precluding visualization of the
158
G.R. Ferril et al. / International Journal of Pediatric Otorhinolaryngology 78 (2014) 157–158
was only possible with the advancement of a telescope under the epiglottis. 4. Discussion
Fig. 1. An endoscopic view of the oropharynx revealing the buccopharyngeal membranes laterally with the tongue tethered behind the membranes, precluding visualization of the larynx. A nasogastric tube can be visualized posteriorly.
1p36 deletion syndrome is a relatively common genetic anomaly that has gained more attention in the literature recently due in part to improvements in identification and characterization of specific genetic alterations. Although it has been shown to exhibit a wide range of phenotypic presentations, several characteristic findings have been well-described, including neurologic, audiologic, cardiopulmonary, and muskuloskeletal defects, as well as dysmorphic craniofacial features. To our knowledge, no upper airway anomalies have been associated with this syndrome. In the patient described here, two specific genetic abnormalities, consisting of both a deletion on the short arm and a duplication on the long arm of chromosome 1, were identified. Pulmonary atresia, VSD, dysmorphic craniofacial features, and neurologic deficits, which ultimately led to the patient’s demise, were present in this patient, in addition to the airway findings of persistent buccopharyngeal membranes, retrognathia, and small laryngeal structures. Upper airway anomalies have not been associated with either of the above genotypes. We present this case to describe the upper aerodigestive tract findings and associated management rendered in order that this information be included in the potential clinical findings and care of patients with this syndrome. 5. Conclusion
Fig. 2. An endoscopic view of the hypopharynx allowing visualization of the esophageal introitus posteriorly with associated nasogastric tube and the epiglottis obscuring the view of the laryngeal introitus.
laryngeal introitus and true vocal folds (Figs. 1 and 2). Because of these findings and the desire to avoid edema in this tenuous airway, the decision was made to perform a tracheostomy to obtain a secure airway. The patient was ventilated with a laryngeal mask airway during tracheostomy. The trachea below the laryngeal cartilage was noted to be normal in appearance. Repeat microlaryngoscopy and bronchoscopy and a tracheostomy tube change were performed at day of life 8. The presence of a stable and secure allowed a more thorough examination, and the laryngeal introitus and true vocal folds were visualized. Findings were significant for retrognathia, glossoptosis, and an anterior and small larynx. Visualization of the true vocal cords
Appropriate diagnosis and treatment of 1p36 deletion syndrome requires chromosomal analysis and identification of associated abnormalities, which may include airway malformations leading to respiratory compromise. Airway anomalies manifesting as difficult intubation or critical airway should be considered in the list of potential manifestations of 1p36 deletion syndrome, and prenatal ultrasonography may be helpful in identifying and preparing for management of these anomalies. References [1] M. Gajecka, K.L. Mackay, L.G. Shaffer, Monosomy 1p36 deletion syndrome, Am. J. Med. Genet. Part C, Semin. Med. Genet. 145C (2007) 346–356. , http://dx.doi.org/ 10.1002/ajmg.c.30154. [2] H.A. Heilstedt, et al., Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome, Am. J. Hum. Genet. 72 (2003) 1200–1212. , http://dx.doi.org/10.1086/375179. [3] K. Minami, et al., 1p36 deletion syndrome with intestinal malrotation and annular pancreas, Eur. J. Pediatr. 164 (2005) 193–194. , http://dx.doi.org/10.1007/s00431004-1581-z. [4] N. Okamoto, et al., A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy, J. Hum. Genet. 47 (2002) 556–559. , http://dx.doi.org/ 10.1007/s100380200085.