Trigeminal ganglia hypoplasia as imaging clue for the diagnosis of Gómez-López-Hernández syndrome

A 42-year-old woman presented with ataxia and numbness in her face since childhood. Her parents were nonconsanguineous. Examination showed ataxia, alopecia, absent corneal reflex, and hypoesthesia in right trigeminal territory (figure 1). Brain MRI disclosed rhombencephalosynapsis and trigeminal nerve hypoplasia (figure 2). Exome sequencing excluded other genetic diseases. Gomez-Lopez-Hernandez syndrome (GLHS) was diagnosed.