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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… Click to show full abstract
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. Gómez-López-Hernández syndrome (GLHS) was diagnosed.
Keywords:
teaching neuroimages;
ndez syndrome;
mez pez;
hern ndez;
pez hern
Journal Title: Neurology
Year Published: 2021
Link to full text (if available)
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Journal Title: Neurology
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!