Multiple Sclerosis Journal - October 2017 - 1558

702550
case-report2017

MSJ0010.1177/1352458517702550Multiple Sclerosis JournalAA Zambon, G Cecchetti

MULTIPLE
SCLEROSIS
JOURNAL

MSJ

Case Report

Primary progressive multiple sclerosis
presenting with severe predominant cognitive
impairment and psychiatric symptoms: A
challenging case

Multiple Sclerosis Journal
2017, Vol. 23(11) 1558-1561
DOI: 10.1177/
https://doi.org/10.1177/1352458517702550
1352458517702550
https://doi.org/10.1177/1352458517702550
© The Author(s), 2017.
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Alberto Andrea Zambon, Giordano Cecchetti, Francesca Caso, Roberto Santangelo,
Cristina Baldoli, Maria Grazia Natali Sora, Giancarlo Comi, Giuseppe Magnani
and Vittorio Martinelli

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.
Keywords: Primary progressive multiple sclerosis, cognitive impairment, progressive cognitive decline,
magnetic resonance imaging
Date received: 3 November 2016; revised: 22 January 2017; accepted: 8 March 2017

Introduction
Cognitive impairment of domains such as memory,
mental processing speed, attention, and executive function is a frequent feature of multiple sclerosis (MS),
affecting up to 65% of patients and normally worsening with later stages of the disease.1 Nevertheless, a
debilitating and progressive severe cognitive decline
sometimes associated with neuropsychiatric disturbances and behavioral changes can be occasionally the
presenting symptom of MS.2,3 When this clinical presentation occurs, primary neurodegenerative dementias,
inherited or acquired leukodystrophies, infectious,
autoimmune, or metabolic disorders should be
excluded. In order to improve the characterization of
this peculiar and still rare phenotype of MS, we report
the case of a young man who referred to our hospital
with the suspect of a hereditary leukodystrophy and
was eventually diagnosed with MS.
Case report
In January 2016, a 38-year-old Caucasian man was
referred to our hospital. He was born to non-consanguineous parents after uneventful pregnancy and had
1558

normal neurological development. Past and family
history was unremarkable. Since 2011 the patient
experienced behavioral and mood changes with initial
dysphoria, subsequent loss of motivation and initiative, social withdrawal, and reduction of work performances. A slowing of speech was also observed. He
used to work as a pastry chef and manager at his
father's shop and was gradually downgraded to simpler tasks. Based on the suspect of a mood disorder,
the patient was first assessed by a psychologist, who
provided psychotherapy for 1 year, and a psychiatrist.

Correspondence to:
AA Zambon
Department of Neurology,
San Raffaele Scientific
Institute, Ospedale San
Raffaele, Via Olgettina 60,
20132 Milan, Italy.
zambon.alberto@hsr.it
Alberto Andrea Zambon
Giordano Cecchetti
Francesca Caso
Roberto Santangelo
Maria Grazia Natali Sora
Giancarlo Comi
Giuseppe Magnani
Vittorio Martinelli
Department of Neurology,
San Raffaele Scientific
Institute, Ospedale San
Raffaele, Milan, Italy
Cristina Baldoli
Department of
Neuroradiology, San Raffaele
Scientific Institute, Ospedale
San Raffaele, Milan, Italy

In June 2015, due to the progression of symptoms and
the appearance of difficulties in calculations and occasional episodes of urinary incontinence, he underwent
medical investigations including non-contrastenhanced brain magnetic resonance imaging (MRI),
electroencephalogram (EEG), single positron emission computed tomography (SPECT), and neurological assessment. Furthermore, he performed a first
neuropsychological assessment (the choice of tests
was made according to the suspect of a progressive
dementia and results were similar to those performed
in our hospital 6 months later). A global cognitive
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