Neuro-Ophthalmology & Neuro-Otology
Retinal vascular disorders
Jun. 21, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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This 18-year-old man with gait difficulty initially presented with symptoms of tip-toe gait at age 3.5 years. The patient showed slow but gradual worsening over 14 years of follow-up. He developed mild speech difficulty after age 13 years. Examination at 18 years of age showed increased deep tendon reflexes in the legs. Plantars were extensor, and gait was typically spastic. Mild dysarthria and dysmetria were evident. All investigations were normal, including electroneuromyography, cranial and spinal MRIs, serum VLCFA, and leucocyte enzymes, and he was diagnosed with pure hereditary spastic paraplegia. (Contributed by Dr. Haluk Topaloglu.)