Infant Journal
Browse articlesUse of FEES in identifying neurological variant of laryngomalacia, dysphagia and subsequent Smith-Magenis syndrome diagnosis in a newborn
The authors present a single patient case study of a term infant presenting with marked tachypnoea and desaturations of unknown cause while breastfeeding immediately following birth. Specialised speech and language therapy assessments, including fibreoptic endoscopic evaluation of swallowing (FEES) and videofluoroscopic swallow study (VFSS), helped to identify a neurological variant of dysphagia, resulting in further neurological and genetic testing, and the positive identification of Smith-Magenis syndrome.
Nicoll BellClinical Lead Speech and Language Therapist
nicoll.bell@nhs.net
Alanna Wagher
Highly Specialist Speech and Language Therapist
St George’s Hospital, London
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Keywords
paediatric dysphagia; laryngomalacia; fibreoptic endoscopic evaluation of swallowing; videofluoroscopic swallow study; Smith-Magenis syndrome
Key points
- Congenital myaesthenic syndrome (CMS) classically presents with a history of skeletal weakness.
- Feeding difficulties are a hallmark presentation of CMS.
- Objective swallow assessments are carried out by a specialist Speech and Language Therapist (SLT) alongside an ENT Doctor.
- SLT and ENT may recommend further neurological and genetic testing.
Also published in Infant:
VOLUME 10/ISSUE 2, MARCH 2014
A congenital dacryocystocele (also known as a nasolacrimal duct cyst) results from a failure of canalisation of the nasolacrimal duct, forming when amniotic fluid fills the obstructed duct causing distention of the lacrimal sac. This article describes the rare case of a newborn female infant with bilateral congenital dacryocystoceles presenting with respiratory difficulty soon after birth. The diagnosis and management of dacryocystoceles is discussed.
