RESUMEN
We had 58-year-old-man with chronic lower back pain, progressive whole extremities and facial muscle weakness, dysarthria and recurrent aspiration during swallowing, without any sensory disturbance. His two brothers had similar symptoms from their 6th decade. He had muscle atrophy on tongue, both hand lower leg muscles with some fasciculations. All tendon reflexes were absent without pathologic pyramidal reflex. Nerve conduction studies revealed low median, ulnar, and sural sensory nerve action potential amplitude. On EMG study, there were chronic denervation potentials on most of muscles of extremities. On DNA analysis, there were abnormal expansions of CAG repeats in the androgen receptor gene. We confirmed a X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome).
Asunto(s)
Humanos , Potenciales de Acción , Atrofia Bulboespinal Ligada al X , Deglución , Desnervación , ADN , Análisis Mutacional de ADN , Disartria , Extremidades , Músculos Faciales , Fasciculación , Mano , Pierna , Dolor de la Región Lumbar , Músculos , Atrofia Muscular , Conducción Nerviosa , Receptores Androgénicos , Reflejo , Reflejo de Estiramiento , Hermanos , LenguaRESUMEN
Patients with Kennedy syndrome, which progresses more slowly than amyotrophic lateral sclerosis show a mild degree of motor fluctuation but rarely show significant decremental responses to repetitive nerve stimulations. Even in a patient with decremental responses to repetitive nerve stimulations, there is usually no significant improvements in motor symptoms to anticholinesterases. We experienced a patient with Kennedy syndrome, who showed significant decremental responses to repetitive nerve stimulations and a marked degree of motor fluctuation. His motor fluctuation responded dramatically to anticholinesterase. (J Korean Neurol Assoc 19(5):544~546, 2001)
Asunto(s)
Humanos , Esclerosis Amiotrófica Lateral , Atrofia Bulboespinal Ligada al X , Inhibidores de la Colinesterasa , Miastenia GravisRESUMEN
The Foster Kennedy syndrome is ipsilateral optic disc atrophy and contralateral optic disc edema that is caused not only frontal lobe tumor but also another intracranial tumors and non tumorous conditions. In this case, suspected neurofibromatosis by the skin and ocular manifestations, there are glioblastoma multiforme in left temporoparietal lobe and undefined mass with bony destruction of the ipsilateral sphenoidal wing ridge. Authors asserted that ipsilateral optic atrophy was caused by direct compression of the undefined mass on sphenoidal wing ridge to the optic nerve and the contralateral disc edema was result from high intracranial pressure caused by glioblastoma multiforme.