ESPE Abstracts

Cerebellar-facial-dental syndrome is a rare autosomal recessive disorder due to biallelic variants in the BRF1 gene. It is characterised by cerebellar hypoplasia, intellectual disability, dysmorphic facial features and short stature. There have been only 12 patients described in the literature to date. We report a case of a 9-year-old non-consanguineous Caucasian boy with cerebellar-facial-dental syndrome and multiple coexisting diagnoses, including Klinefelter syndrome (XXY k...

Effective management of Type 1 diabetes can be challenging. We would like to discuss the management of a 7 year old boy with Type 1 Diabetes, Lissencephaly and global severe developmental delay with medically refractory epilepsy who was introduced to and managed on a Ketogenic diet to try and improve his seizure control. He is non mobile and non-verbal and purely gastrostomy fed. He has diagnoses including. Lissencephaly and band heterotopia, absent corpus callosum, microcepha...

Background: A third of children in the UK are obese or overweight. The majority are not in contact with medical services. Presentation to general paediatricians for unrelated condition may pose an opportunity to identify children with obesity. The UK obesity services for Children & Adolescents (OSCA) group have produced guidelines for management of obese children in secondary care.Objective and hypotheses: Determine the prevalence of obesity in gener...