Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis

A 40-year-old woman presented with a 5-year history of numbness in hands and feet, apathy, compulsive behavior, and aggression towards others. Medical history disclosed juvenile-onset cataracts. Examination disclosed tendinous xanthoma. Electroneuromyography disclosed sensorimotor demyelinating polyneuropathy. Neuroimaging studies showed global cortical atrophy. Tc-99m brain SPECT scan showed marked hypoperfusion involving the frontal and temporal lobes (figure). Plasma cholestanol levels and bile alcohol glycoconjugates were elevated, enabling a diagnosis of cerebrotendinous xanthomatosis (CTX).

Source: Neurology - September 11, 2017 Category: Neurology Authors: Souza, P. V. S., Bortholin, T., Naylor, F. G. M., Pinto, W. B. V. R., Oliveira, A. S. B. Tags: MRI, SPECT, Metabolic disease (inherited), Peripheral neuropathy, Frontotemporal dementia RESIDENT AND FELLOW SECTION Source Type: research