Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings
This 21-year-old female was admitted in December 2008 because of hoarseness, difficulty in swallowing, choking and fatigue in the recent 3 months. She had weight loss, difficulty in walking and bilateral hearing loss since 2 years ago which aggravated gradually. She also reported chronic bifrontal throbbing headache that was more prominent in mornings and history of several generalized tonic clonic seizures in the past few years. In the last months, she occasionally had mild dyspnea during sleep. Her 4 brothers and 1 sister were healthy and parents were non-consanguineous.\nShe was alert and of normal intelligence. There was bifacial weakness, wasted tongue with fasciculation, diminished palatal and left vocal cord movements and nasal speech. Weakness particularly in neck and proximal limb girdle and bilateral pes cavus were noted. Routine lab tests, creatine phosphokinase (CPK), lactate dehydrogenase (LDH) and acetylcholine receptor antibody disclosed no abnormality. Findings of brain MRI, chest CT-scan and abdomino-pelvic sonography were unremarkable. There was bilateral low frequency sensorineural hearing loss and electrodiagnostic study was compatible with anterior horn cell disease.