title: Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case.
abstract: Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs. Brain and spinal magnetic resonance imaging (MRI) combined with cerebrospinal fluid (CSF) analysis prompted the diagnosis of MS.
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Alberto Andrea
authors.initials: AA
authors.lastname: Zambon
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Giordano
authors.initials: G
authors.lastname: Cecchetti
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Caso
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Santangelo
authors.affiliation: Department of Neuroradiology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Baldoli
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Natali Sora
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Comi
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Magnani
authors.affiliation: Department of Neurology, San Raffaele Scientific Institute, Ospedale San Raffaele, Milan, Italy.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Martinelli
mesh_terms: D000328:Adult; D060825:Cognitive Dysfunction / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008297:Male; D019964:Mood Disorders / Q000175:diagnosis* / Q000209:etiology; D020528:Multiple Sclerosis, Chronic Progressive / Q000150:complications / Q000175:diagnosis*
keywords: Primary progressive multiple sclerosis; cognitive impairment; magnetic resonance imaging; progressive cognitive decline