LCDR Michael J. Eliason, MD, USN; LCDR Jonathan M. Melzer, MD, USN; CDR Thomas Q. Gallagher, DO, USN
Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.
In 1933 Cornelia Catharina de Lange, a pediatrician and neuropathologist from Amsterdam, first described two patients with typus degenerativus Amsteldamensis (Amsterdam degeneration type), a syndrome characterized by unique facial dysmorphism, developmental delay, and limb abnormalities. Today this rare congenital developmental disorder with varied phenotypic presentations is known as Cornelia de Lange Syndrome (CdLS). It affects approximately 1 in 10,000 live births with no gender predisposition.
Given the tendency of the disease process to manifest in multiple organ systems, patients with CdLS are typically treated by a variety of specialists. Pediatric otolaryngology may be involved to address hearing loss, airway concerns, and craniofacial abnormalities. These patients require long-term evaluation by many
specialty services, which can add a significant burden to the caregivers. Robust hospital centers of excellence and a national foundation for CdLS exist to provide
focus for research along with clinical and social support for families impacted by the diagnosis. Such centers offer a modern multidisciplinary approach to optimize
care and serve as a model for how complex patients can be treated.
In this article, the authors present a case of classic CdLS, as well as a progressive approach to multidisciplinary management within the spectrum of otolaryngology.