Gomez Lopez Hernadez syndrome: a case report

Case presentation: Female patient, 8 years old, born in Itanhaem, from São Paulo, with a previous context of hypotonic infant syndrome, repetitive head nodding movements, convergent strabismus, alopecia, low implantation the ears and short stature. On evaluation, he was alert, without language alterations, threshold for fructation, difficulty concentrating, hyperactivity, but evidence intellectual disability. Alopecia on left forehead, ear implantation, global grade 5 muscle strength, normoactive osteotendinous reflexes, no clonus, fasciculations, adequate tone trophism. Abnormal “no-no” inhibition by eye fixation up to two seconds, mild dysmetria intention tremor. Broad-based gait, imbalance fall preferred side tandem, trunk instability. She assumed nine gaze positions diplopia, had limited saccades cervical correction. Hypoesthesia face, absent palpebral corneal reflex, balaclava pattern, normal jaw movement. Cranial MRI showed partial rhomboencephalosynapse hypoplasia trigeminal nerve.