Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings
This 17-year-old girl was admitted for the evaluation of slowly progressive dysphagia and choking from 6 months before admission in 2000.\nShe also complained of proximal weakness in upper extremities from 2 weeks ago. She had an episode of febrile seizure at the age of 3 and slowly progressive hearing loss from the age of 12. Her 3 brothers and 2 sisters were healthy and parents were non-consanguineous. Physical examination was normal. On neurologic exam, there was bifacial weakness, diminished gag reflex, atrophic tongue with fasciculation and proximal weakness. Routine laboratory tests, peripheral blood smear, creatine phosphokinase (CK), and lactate dehydrogenase (LDH) were all normal, as well as cerebrospinal fluid (CSF) analysis. There was bilateral low frequency sensorineural hearing loss on pure tone audiometry (PTA) and motor neuron involvement mainly in cranial innervated muscles on EMG-NCV. Other investigations including chest X-ray, brain MRI, Tensilon test, repetitive nerve stimulation (RNS) and abdomino-pelvic sonography were negative and genetic testing did not show deletion in SMN1. One year after the beginning of gabapentin, 900 mg/day, she reported some improvement in dysphonia and dysphagia, which continued for the next 4 years, when she was lost to follow up.