Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings
A 22-year-old female, presented with hoarseness, sore throat, dysphagia, and hearing loss from 3 years before our first visit in December 2008. In the last 2 months, weakness developed over lower and then upper limbs associated with muscle wasting, fasciculation and exertional dyspnea. She reported 2 episodes of seizures at the age of 11 and her parents were first cousins and all 4 sisters and her brother were healthy. She was mentally normal with bifacial weakness, wasted tongue and fasciculation (), palatal weakness, reduced motor force more in lower limbs, bilateral foot drop and generalized brisk DTRs. Plantar reflexes were downward. Sensory and cerebellar exams were unremarkable. Lab data revealed hypochromic microcytic anemia with normal serum iron and total iron binding capacity. In addition, brain MRI was normal. PTA showed bilateral low frequency sensorineural hearing loss and normal tympanometry. Nerve conduction studies were normal and EMG of limbs and tongue muscles was compatible with motor neuron disease. One year after the treatment with 900 mg gabapentin, her swallowing subjectively improved and motor strengths became completely normal. No change in speech and hearing was seen.