Course: A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
CME Credits: 1.00
Released: 2023-11-27
A 31-year-old woman was evaluated for generalized dystonia, dysarthria, dysphagia, severe scoliosis, and motor development disorder that began in her childhood. Born by cesarean delivery to nonconsanguineous parents, she developed difficulties with head control, standing, and feeding at age 10 months. Subsequently, she faced progressive motor challenges (walking, speech, and swallow); contractures in her fingers, toes, wrists, and knees; and scoliosis. In adolescence, she experienced progressive stiffness, episodes of painful spasms and oculomotor crisis, and galactorrhea unrelated to childbirth in adulthood. Her symptoms worsened with age and progressed to her using a wheelchair, having difficulty in speech, and not having access to education. She had a younger brother with similar symptoms who passed away at age 20 years of unknown causes.
Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
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