Searchable abstracts of presentations at key conferences in endocrinology

ea0002p49 | Genetics | SFE2001

A Case of Mu1tiple Endocrine Neoplasia Type 1 (MEN1) Caused By A New Genetic Mutation

Soran H , Murray L , Ellis I , Ellard S , English P , Jones I

Introduction: The MEN1 is inherited as autosomal dominant trait. In MEN 1 families a deletional mechanism of the regulatory gene appears to be the base of the syndrome.Case 1: 40-year-old lady presented with a two-day history of headaches, blurred vision and funny turns, culminating in loss of consciousness and a generalised tonic-clonic seizure. Her GCS was 3; she was intubated, ventilated and referred to ICU. U+Es normal, Calcium high, phosphate low, a...