Gomez-lopez-hernandez syndrome : a rare neurocutaneous syndrome

Abstract EN

A six-year-old boy presented with generalized tonic-clonic seizures and myoclonic jerks; the patient was treated with anti-epileptic medication and his seizures ceased into remission.

During the physical examination, the patient had bilateral parietal alopecia with insensitivity to painful stimuli at the site of alopecia.

MRI brain showed rhombencephalosynapsis with dysgenesis of the corpus callosum.

The patient was diagnosed with Gomez-Lopez-Hernandez Syndrome which was previously overlooked.

We report the first case in the Kingdom of Bahrain, to the best of our knowledge.

This presentation elaborates further on this rare neurocutaneous disorder which was missed for several years.