Novel clinical findings of neurodevelopmental disorder linked to HPDL gene mutation: a case report from Saudi Arabia

HPDL gene mutations have recently been linked to neurodevelopmental disorders with variable presentations, ranging from mild hereditary spastic paraplegia to severe infantile neurodegeneration. While the HPDL protein’s role is unknown, it is highly expressed in brain mitochondria. Here we report a case of a 19-month-old male with a homozygous HPDL gene mutation presented with global developmental delay, epilepsy, laryngomalacia post-arytenoidectomy, swallowing dysfunction, and spasticity. He exhibited significant dysmorphic features and recurrent convulsions, and required nasogastric feeding due to oral feeding difficulties.