[P3-113] A case of adolescence-onset, rapidly progressive amyotrophic lateral sclerosis
[Introduction] ALS is an adult-onset, slowly progressive neurodegenerative with the involvement of upper and lower motor neurons. We report a teenager with rapidly progressive ALS, mimicking immune mediated neuropathies.
[Case] A 14-year-old boy presented with pain in the right leg at the age of 13. A month later he began to limp, and 3 months later he had difficulty in walking and smiling. Clinical examination showed slight peripheral facial palsy, and asymmetric, distal weakness of the limbs. Spinal MRI revealed enhancement of cauda equina .Electrophysiologic studies showed the low amplitude of muscle action potentials, reduced detection of F waves, and neurogenic changes of motor units with denervation potentials on electromyography. Based on a tentative diagnosis of multifocal motor neuropathy or immune mediated neuropathy, he was treated with intravenous immune globulin, steroid pulse therapy and plasma exchange, which failed to arrest further progression. He had neither signs of upper motor neuron involvement nor autonomic dysfunction. He required tube feeding and mechanical ventilation 5 months after the onset. Subsequently he exhibited progressive external ophthalmoplegia, resulting in totally locked-in state 1 year after the onset. The diagnosis of ALS was made by a novel missense mutation in the SOD1 gene. [CONCLUSION] The diagnosis of this patient was complicated, due to the onset at the age of 13, absent signs of upper motor neuron involvement, and enhancement of nerve roots on MRI. The possibility of ALS and the genetic investigation of SOD1 gene should be considered in the adolescent patient with progressive weakness
[Case] A 14-year-old boy presented with pain in the right leg at the age of 13. A month later he began to limp, and 3 months later he had difficulty in walking and smiling. Clinical examination showed slight peripheral facial palsy, and asymmetric, distal weakness of the limbs. Spinal MRI revealed enhancement of cauda equina .Electrophysiologic studies showed the low amplitude of muscle action potentials, reduced detection of F waves, and neurogenic changes of motor units with denervation potentials on electromyography. Based on a tentative diagnosis of multifocal motor neuropathy or immune mediated neuropathy, he was treated with intravenous immune globulin, steroid pulse therapy and plasma exchange, which failed to arrest further progression. He had neither signs of upper motor neuron involvement nor autonomic dysfunction. He required tube feeding and mechanical ventilation 5 months after the onset. Subsequently he exhibited progressive external ophthalmoplegia, resulting in totally locked-in state 1 year after the onset. The diagnosis of ALS was made by a novel missense mutation in the SOD1 gene. [CONCLUSION] The diagnosis of this patient was complicated, due to the onset at the age of 13, absent signs of upper motor neuron involvement, and enhancement of nerve roots on MRI. The possibility of ALS and the genetic investigation of SOD1 gene should be considered in the adolescent patient with progressive weakness