Progressive Bulbar Paralysis of Childhood (Fazio-Londe Disease) with Deafness

摘要

A 10-year-old girl presented a progressive bulbo-pontine paralysis associated with sensorineural deafness. Death occurred 13 months after the initial symptoms. The main neuropathological findings disclosed a degeneration of the motor neurons in the anterior horns of the cervical and upper dorsal spinal cord and the nuclei of the Xllth, Xlth, IXth and Vllth cranial nerves. Clinically, this case is a bridge form between Fazio-Londe and Van Laere’s diseases, and pathologically it must be related to the motor neuron diseases as Werd-nig-Hoffmann and Wohlfart-Kugelberg-Welander disease