Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings
A 17-year-old female, unmarried and student presented with speech problem and progressive hearing loss since the age of 12. She was admitted in our hospital in 1999 with liquid dysphagia and progressive weight loss in the last 6 months. She also reported irregularity in menstruation recently. Her parents were first cousins and four siblings had no problem. Systemic examination was unremarkable except left tympanic membrane perforation. She was mentally normal and there was bilateral facial and cervical flexor weakness. The tongue was atrophic with fasciculation and gag reflex was diminished and the limbs were atrophic with mild proximal weakness. Deep tendon reflexes (DTRs) and sensory exams were within normal limits. Biochemical lab tests revealed no abnormality; but on audiometry, there was severe bilateral sensorineural hearing loss. Electromyography and nerve conduction studies (EMG-NCV) were compatible with motor neuron disease with prominent involvement of cranial muscles; in addition, repetitive nerve stimulation was negative. Other investigations including chest X-ray, brain magnetic resonance imaging (MRI) and abdomino-pelvic sonography were normal.