title: A 15-year-old with drop attacks and unsteadiness while descending stairs.
abstract: We describe a 15-year-old young man with mental retardation, epilepsy, drop attacks, and dystonic gait since early childhood. The intrauterine and perinatal course was unremarkable. The drop attacks were characterized by a sudden loss of lower-extremity tone without impairment of consciousness and were triggered by the process of dressing. He would consistently become unsteady while descending stairs. A neurologic evaluation during early childhood had been negative for various genetic and metabolic disorders. The drop attacks prompted a neurologic re-evaluation at age 15 years, subsequent to which a definitive diagnosis was established. We describe the clinical features of a degenerative disorder that manifests associated with down-gaze paresis, dystonia, and nonepileptic drop attacks in childhood. Disorders that can mimic this condition are also discussed.
authors.affiliation: Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: Teng
authors.initials: T
authors.lastname: Ji
authors.forename: Suresh
authors.initials: S
authors.lastname: Kotagal
mesh_terms: D000293:Adolescent; D003228:Conjunctiva / Q000473:pathology / Q000648:ultrastructure; D003937:Diagnosis, Differential; D004421:Dystonia / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D005684:Gait / Q000502:physiology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D013575:Syncope / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology