Thyroid hormone transporter defect: Allan Herndon Dudley Syndrome, masquerading as dyskinetic cerebral palsy

We report a child, a 21-month-old boy, who presented with developmental delay and stiffness. The child had facial dysmorphism with dystonia. MRI of the brain was normal. Thyroid profile showed low free T4, and normal TSH but high free T3. Hence, AHDS was suspected and was confirmed by targeted next-generation testing and Sanger sequencing.

Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Vykuntaraju Kammasandra Gowda Priya Gupta Sanjay K Shivappa Naveen Benakappa Source Type: research