hrp0082p1-d1-240 | Thyroid | ESPE2014

A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea

Patianna Viviana Dora , Predieri Barbara , Garavelli Livia , Fusco Carlo , Madeo Simona Filomena , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...