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