CASE REPORT A Rare Genetic Disorder Characterized by Facial Paralysis: Mobius Syndrome

We report an extremely rare disorder characterized by facial paralysis, Mobius Syndrome. Also clinical, radiological and electrophysiological findings are described, and management aspects are discussed. A 5-year-old boy with Mobius syndrome is presented. He applied to our center because of lacking facial expressions; inability to smile; eye sensitivity; hearing problems, speech difficulties and pes plano valgus deformity. Magnetic resonance imaging (MRI) of the brain showed a slight dilatation of the left ventricule more than expected. In electromyographic (EMG) evaluation, the amplitude of the muscle potentials evoked by facial nerve stimulation was reduced on left side. Auditory brainstem evoked responses demonstrated waveforms I-V were abnormal. The amplitude wave V was less than wave I on left. A normal 46 XY karyotype was present. The other clinical metabolic screening tests were normal. Although it appears to be genetic, its precise cause remains unknown and the medical literature presents conflicting theories. Whether the nerve, brainstem, or muscle aplasia is the primary event has not been established. Abnormal blink reflexes and loss of motor activity with EMG showed a defect at the facial nuclear level. Masking of supranuclear lesions by nuclear defects should also be kept on mind. Abnormal ABR reponses may suggest inclusion of eighth cranial nerve. From the Department of ENT, Ataturk Government Hospital, Antalya, Turkey. (E. Atalay); Department of ENT, Tepecik Medical Training Hospital, Izmir, Turkey. (‹. Çukurova)