P47 – 2875: To describe association of 16p11.2 deletion syndrome with infantile spasm

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Objective To describe association of 16p11.2 deletion syndrome with Infantile spasm. Methods We describe an 18 month old girl referred at the age of 6 month to Paediatric Neurology service for developmental delay and floppiness. She was born at term by normal vaginal delivery. The antenatal, post natal and pregnancy history was unremarkable. She had “lazy eyes” since birth for which she was seen by Ophthalmologist and diagnosed with “Congenital Partial Blindness”. Examination didn't showed any dysmorphic features and the neurological examination revealed hypotonia mainly axially with minimal evidence of weakness. Investigations including MRI brain and neurometabolic workup were all normal. Her genetic testing, microarray showed 16p11.2 deletion. Later on she started having brief episodes of extensions and then flexion of her body in keeping with typical Infantile spasms. EEG showed modified Hypsarrhythmia. She was started on Steroids, initially with a good response in first week but later with poor control for which she was started on Vigabatrin. Since she is on Vigabatrin her spasms have reduced in frequency but not completely stopped. She continues to make neurodevelopmental progress. Results 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16 near the middle of the chromosome at a location designated p11.2. Children with 16p11.2 deletion syndrome usually have developmental delay, intellectual disability and some have minor physical abnormalities such as low-set ears or partially webbed toes. However there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Likewise our patient didn't had any obvious dysmorphic features. Conclusion Infantile spasms is one of the “catastrophic childhood epilepsies” because of its association with significant morbidity and mortality. The etiological diagnosis or associated chromosomal/genetic abnormality further increases the likelihood of neurocognitive difficulties for the patient in future.