Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

Abstract

16p11.2 microdeletion syndrome is a recognisable chromosomal anomaly caused by microdeletions in the 16p11.2 locus. It is characterised by developmental delay, intellectual disability and social impairments or susceptibility to autism spectrum disorder. It also involves mild variable dysmorphism and predisposition to obesity. Motor skills, cognitive function and expressive language are mainly impaired and 20% of affected individuals present with epilepsy. There also appears to be an increase of all types of birth defects, particularly vertebral anomalies. Structural abnormalities have also been described in the Central Nervous System, such as Chiari malformation or cerebellar ectopia.

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