Allergy Asthma Respir Dis.
2021 Jan;9(1):42-45. 10.4168/aard.2021.9.1.42.
Severe laryngomalacia in a 1-month infant with Marfan syndrome
- Affiliations
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- 1Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea
- 2Department of Otolaryngology-Head and Neck Surgery, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Korea
- 3Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
- KMID: 2512580
- DOI: http://doi.org/10.4168/aard.2021.9.1.42
Abstract
- Severe respiratory difficulty can be more prominent, when combined with severe pectus excavatum and cardiovascular manifestations in infants with Marfan syndrome. There have been few reports on severe laryngomalacia as a cause of severe respiratory difficulty in an infant with Marfan syndrome. A 1-month-old boy was admitted due to severe respiratory difficulty. Immediately after birth, he had dysmorphic features, such as micrognathia, wrinkles on the forehead, and down-slanting palpebral fissures. On echocardiography, aortic root dilation with a mitral valve prolapse was observed. Due to severe laryngomalacia accompanied by severe respiratory difficulty and feeding difficulty, a partial epiglottectomy was performed at 1 month of age. After the surgery, suprasternal retraction and inspiratory stridor disappeared, and he started gaining weight with improvement in respiratory difficulty. On whole exome sequencing, a missense mutation on the FBN1 gene (c.3560A> C on exon 29, p.His1187Pro, calcium-binding epidermal growth factor-like #21) was identified. Despite higher perioperative risk due to comorbidities in Marfan syndrome, early intervention of laryngomalacia can be helpful in improving quality of life even in infants with Marfan syndrome.
