Abstract
Aims: To report a fast channel congenital myasthenic syndrome in an infant who presented as a floppy baby with episodes of acute apnoeas.
Methodology: Case notes from a tertiary hospital were reviewed and additional literature search was performed.
Report: A 9 week old infant was referred to a tertiary unit from a local district general hospital with a history of floppiness, recurrent feeding difficulties and intermittent apnoeas The apnoeic episodes were associated with bradycardias and desaturations needing bag and mask ventilation on most occasions.
He had had ENT, speech and language assessment, MRI brain and a basic metabolic workup at the time of transfer.
In our hospital he was further assessed by various professionals and investigated accordingly for a floppy baby syndrome.
At 4 months of age he was admitted to paediatric intensive care unit following a respiratory arrest. On this occasion was as noted to have ptosis and opthalmoplegia which was more obvious He had a Tensilon test performed which was positive (video clip available) Following this he had nerve conduction tests and electro myography which confirmed a myasthenic syndrome.
DNA testing revealed the diagnosis of a fast channel congenital myasthenic syndrome.
He has responded well to pyridostigmine, but continues to have infrequent intermittent respiratory crises Management issues are discussed.
Conclusion: This is the first case of fast channel congenital myasthenic syndrome in Northern Ireland. Ptosis and opthalmoplegia may not be obvious on initial examination, all floppy infants should be explored for congenital myasthenic syndrome.
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Mallappa, A., Tirupathi, S., Boyd, J. et al. 661 Fast Channel Syndrome: Presentation, Diagnosis and Management in An Infant. Pediatr Res 68 (Suppl 1), 338 (2010). https://doi.org/10.1203/00006450-201011001-00661
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DOI: https://doi.org/10.1203/00006450-201011001-00661