title: Combined central and peripheral demyelination: Clinical features, diagnostic findings, and treatment.
abstract: Combined central and peripheral demyelination (CCPD) is rare, and current knowledge is based on case reports and small case series. The aim of our study was to describe the clinical features, diagnostic results, treatment and outcomes in a large cohort of patients with CCPD. Thirty-one patients entered this retrospective, observational, two-center study. In 20 patients (65%) CCPD presented, after an infection, as myeloradiculoneuropathy, encephalopathy, cranial neuropathy, length-dependent peripheral neuropathy, or pseudo-Guillain-Barré syndrome. Demyelinating features of peripheral nerve damage fulfilling European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria for CIDP were found in 23 patients (74%), and spatial dissemination of demyelinating lesions on brain MRI fulfilling the 2010 McDonald criteria for multiple sclerosis (MS) in 11 (46%). Two thirds of the patients had a relapsing or progressive disease course, usually related to the appearance of new spinal cord lesions or worsening of the peripheral neuropathy, and showed unsatisfactory responses to high-dose corticosteroids and intravenous immunoglobulins. The clinical presentation of CCPD was severe in 22 patients (71%), who were left significantly disabled. Our data suggest that CCPD has heterogeneous features and shows frequent post-infectious onset, primary peripheral nervous system or central nervous system involvement, a monophasic or chronic disease course, inadequate response to treatments, and a generally poor outcome. We therefore conclude that the current diagnostic criteria for MS and CIDP may not fully encompass the spectrum of possible manifestations of CCPD, whose pathogenesis remains largely unknown.
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy. Electronic address: andrea.cortese@mondino.it.
authors.forename: A
authors.initials: A
authors.lastname: Cortese
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Franciotta
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Alfonsi
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Visigalli
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; University of Pavia, Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zardini
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; Neuroscience Consortium, University of Pavia, Monza Policlinico and Pavia Mondino, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Diamanti
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; Neuroscience Consortium, University of Pavia, Monza Policlinico and Pavia Mondino, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Prunetti
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Osera
authors.affiliation: Neuroscience Consortium, University of Pavia, Monza Policlinico and Pavia Mondino, Italy; Ospedale di Circolo/Fondazione Macchi, Department of Neurology and Stroke Unit, Varese, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gastaldi
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; Neuroscience Consortium, University of Pavia, Monza Policlinico and Pavia Mondino, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Berzero
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pichiecchio
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Piccolo
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Lozza
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Piscosquito
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Salsano
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; University of Pavia, Pavia, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Ceroni
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy; University of Pavia, Pavia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Moglia
authors.affiliation: Ospedale di Circolo/Fondazione Macchi, Department of Neurology and Stroke Unit, Varese, Italy; University of Insubria, Varese, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Bono
authors.affiliation: Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.affiliation: C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Marchioni
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D003711:Demyelinating Diseases / Q000000981:diagnostic imaging* / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011129:Polyradiculoneuropathy / Q000000981:diagnostic imaging / Q000628:therapy; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000000981:diagnostic imaging / Q000628:therapy; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult
keywords: Acute disseminated encephalomyelitis; Chronic inflammatory demyelinating polyneuropathy; Combined central and peripheral demyelination; Guillain-Barré syndrome; Multiple sclerosis