Endocrine Abstracts

Myotonic Dystrophy is an autosomal dominant multi-system disorder characterised by muscle weakness and myotonia, with associated cardiac, ophthalmic, gastrointestinal and endocrine abnormalitiesA 16-year-old boy was referred with a 2 months history of difficulty releasing his hand-grip and problems with swallowing. The clinical diagnosis of myotonic dystrophy 1 was confirmed with genetic testing with the detection of a DMPK expansion mutation. During inv...

Neurological complications of thyroid disease are well recognised; however the distinct clinical entity of encephalopathy associated with autoimmune thyroid disease has been only occasionally reported in the paediatric population. We describe a case of Hashimoto’s encephalopathy (HE) in a teenage girl.A 13-year-old girl presented with seizures and prolonged confusion. Baseline blood tests, CSF analysis and CT Brain were essentially normal. She was d...