Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome

Area of Science:

• Genetics
• Pediatrics
• Medical Case Reports

Background:

• Williams syndrome is a rare genetic disorder affecting approximately 1 in 7500 individuals.
• It results from deletions in chromosome 7q11.23, leading to a distinctive phenotype with varied symptoms.
• Vocal fold dysfunction is a recognized, though less common, manifestation.

Purpose of the Study:

• To present two case reports of early-term infants diagnosed with Williams syndrome.
• To detail the clinical course and management of vocal fold paralysis in these infants.
• To highlight the multidisciplinary care required for complex cases.

Main Methods:

• Case report methodology was employed.
• Clinical courses and treatment regimens for two infants were documented.
• The genetic basis involving elastin gene deletion was considered.

Main Results:

• Both infants presented with Williams syndrome and vocal fold paralysis (bilateral in one, unilateral in the other).
• Management involved multidisciplinary care, including home tracheostomy and gastrostomy tubes for feeding.
• Feeding therapy was essential for nutritional support.

Conclusions:

• Vocal fold paralysis, potentially linked to elastin gene deletion, complicates Williams syndrome care in infants.
• Early diagnosis and intensive, multidisciplinary support are crucial for managing these complex cases.
• These cases underscore the variability of Williams syndrome manifestations and associated care needs.