Fabry disease, differential diagnosis or coexistence with multiple sclerosis? A new mutation identified

2020 ◽  
Vol 129 (2) ◽  
pp. S37
Author(s):  
Alejandra Camacho-Molina ◽  
Nancy Monroy Jaramillo ◽  
Yerye Gibrán Mayén Lobo ◽  
Katiuzka Casares-Cruz ◽  
Marisol Molina-Medina ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Fabry Disease ◽  
New Mutation

scholarly journals Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis

2018 ◽  
Vol 8 (11) ◽  
pp. e01121 ◽  
Author(s):  
Lorenzo Ugga ◽  
Sirio Cocozza ◽  
Giuseppe Pontillo ◽  
Camilla Russo ◽  
Vincenzo Brescia Morra ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Fabry Disease

The role of Central Vein Sign in the differential diagnosis between Multiple Sclerosis and Fabry Disease

2021 ◽  
Author(s):  
Mario Tranfa ◽  
Mario Tortora ◽  
GIUSEPPE PONTILLO ◽  
Valentina Virginia Iuzzolino ◽  
E. Riccio ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Fabry Disease ◽  
Central Vein

scholarly journals Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e71894 ◽  
Author(s):  
Tobias Böttcher ◽  
Arndt Rolfs ◽  
Christian Tanislav ◽  
Andreas Bitsch ◽  
Wolfgang Köhler ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Fabry Disease

CLINICAL LABORATORY DIFFERENTIAL DIAGNOSIS OF ENCEPHALITIS, DISSEMINATED ENCEPHALOMYELITIS AND MULTIPLE SCLEROSIS IN CHILDREN

2017 ◽  
Vol 96 (4) ◽  
pp. 34-42
Author(s):  
N. V. Skripchenko ◽  
◽  
G. P. Ivanova ◽  
E. Y. Skripchenko ◽  
A. V. Surovtseva ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Clinical Laboratory

scholarly journals Co-Occurrence of Guillain-Barre Syndrome and Multiple Sclerosis: A Rare Case Report

2021 ◽  
pp. 1-5
Author(s):  
Amr Hassan ◽  
Alaa El-Mazny ◽  
Mohammed Saher ◽  
Ismail Ibrahim Ismail ◽  
Mohammed Almuqbil
Keyword(s):  
Multiple Sclerosis ◽  
Differential Diagnosis ◽  
Case Report ◽  
Rare Case ◽  
Guillain Barre Syndrome ◽  
Guillain Barré Syndrome ◽  
Rare Case Report ◽  
Central Nervous Systems ◽  
Guillain Barré ◽  
Demyelinating Disorders

Guillain-Barre syndrome (GBS) and multiple sclerosis (MS) are autoimmune demyelinating disorders of the peripheral and central nervous systems, respectively. The co-occurrence of these 2 conditions is rare in the literature. Herein, we present a rare case of GBS and MS in a 19-year-old female who presented initially with GBS followed by MS, and we provide a literature review. Despite being rare, it should be kept in mind in the differential diagnosis of patients with atypical and usual presentation of both diseases.

scholarly journals New mutation in Fabry disease: c.448delG, first phenotypic description

2021 ◽  
Vol 27 ◽  
pp. 100708
Author(s):  
Esteban Calabrese ◽  
Guillermo Rodriguez Botta ◽  
Dra Paula Rosenfeld
Keyword(s):  
Fabry Disease ◽  
New Mutation

First Presentation of an Acquired Demyelinating Syndrome

2017 ◽  
Vol 16 (03) ◽  
pp. 164-170
Author(s):  
Rachel Gottlieb-Smith ◽  
Amy Waldman
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Optic Neuritis ◽  
Clinical Features ◽  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
The Central Nervous System

AbstractAcquired demyelinating syndromes (ADS) present with acute or subacute monofocal or polyfocal neurologic deficits localizing to the central nervous system. The clinical features of distinct ADS have been carefully characterized including optic neuritis, transverse myelitis, and acute disseminated encephalomyelitis. These disorders may all be monophasic disorders. Alternatively, optic neuritis, partial transverse myelitis, and acute disseminated encephalomyelitis may be first presentations of a relapsing or polyphasic neuroinflammatory disorder, such as multiple sclerosis or neuromyelitis optica. The clinical features of these disorders and the differential diagnosis are discussed in this article.

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