Practical Neurology Podcast
Case Reports: Right side weakness, and progressive confusion
Episode guests
Podcast summary created with Snipd AI
Quick takeaways
- A 27-year-old man presented with symptoms that mimicked multiple sclerosis but was eventually diagnosed with Alexander's disease, a rare autosomal dominant leukodystrophy.
- A 59-year-old woman with schizophrenia exhibited progressive confusion and gait difficulty, which turned out to be due to a combination of sarcoidosis and cryptococcal infection.
Deep dives
Case 1: Brainstem and cervical cord lesions in a 27-year-old man
A 27-year-old man presented with progressive right lower limb weakness, followed by right upper limb weakness and multiple other symptoms, including numbness, pain, blurred vision, dysarthria, and urinary and sexual dysfunction. Imaging revealed white matter lesions in various areas of the central nervous system, with contrast enhancement around the brainstem. The differential diagnosis included inflammatory demyelinating conditions like primary progressive multiple sclerosis, space-occupying lesions, and genetic leukodystrophies. Examination findings included upper motor neuron signs and spastic tetraparesis. The patient was eventually diagnosed with Alexander's disease, a rare autosomal dominant leukodystrophy, confirmed by genetic testing.
