New symptoms in a patient with diagnosed porphyria – untypical clinical course or another disease? Extended differential diagnosis of multiple sclerosis

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.

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Mild gray matter atrophy in patients with long-standing multiple sclerosis and favorable clinical course

Multiple Sclerosis Journal ◽

10.1177/13524585211019650 ◽

2021 ◽

pp. 135245852110196

Author(s):

Rosa Cortese ◽

Marco Battaglini ◽

Francesca Parodi ◽

Maria Laura Stromillo ◽

Emilio Portaccio ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Multiple Sclerosis ◽

Gray Matter ◽

Clinical Course ◽

Resonance Imaging ◽

Volume Changes ◽

Magnetic Resonance Imaging Mri ◽

Global Brain ◽

Diffuse Brain

The mechanisms responsible for the favorable clinical course in multiple sclerosis (MS) remain unclear. In this longitudinal study, we assessed whether magnetic resonance imaging (MRI)-based changes in focal and diffuse brain damage are associated with a long-term favorable MS diseases course. We found that global brain and gray matter (GM) atrophy changes were milder in MS patients with long-standing disease (⩾30 years from onset) and favorable (no/minimal disability) clinical course than in sex-age-matched disable MS patients, independently of lesions accumulation. Data showed that different trajectories of volume changes, as reflected by mild GM atrophy, may characterize patients with long-term favorable evolution.

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Diagnosis, Differential Diagnosis, and Misdiagnosis of Multiple Sclerosis

CONTINUUM Lifelong Learning in Neurology ◽

10.1212/con.0000000000000728 ◽

2019 ◽

Vol 25 (3) ◽

pp. 611-635

Author(s):

Andrew J. Solomon

Keyword(s):

Multiple Sclerosis ◽

Differential Diagnosis

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Lipschütz Ulcer: An Unusual Diagnosis that Should Not be Neglected

Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics ◽

10.1055/s-0041-1729147 ◽

2021 ◽

Vol 43 (05) ◽

pp. 414-416

Author(s):

Daniela Alexandra Gonçalves Pereira ◽

Eliana Patrícia Pereira Teixeira ◽

Ana Cláudia Martins Lopes ◽

Ricardo José Pina Sarmento ◽

Ana Paula Calado Lopes

Keyword(s):

Emergency Department ◽

Differential Diagnosis ◽

Clinical Course ◽

Malignant Tumors ◽

Sudden Onset ◽

Drug Reactions ◽

Genital Ulceration ◽

Sexually Transmitted ◽

Inflammatory Processes ◽

Genital Ulcers

AbstractThe diagnosis of genital ulcers remains a challenge in clinical practice. Lipschütz ulcer is a non-sexually transmitted rare and, probably, underdiagnosed condition, characterized by the sudden onset of vulvar edema along with painful necrotic ulcerations. Despite its unknown incidence, this seems to be an uncommon entity, with sparse cases reported in the literature. We report the case of an 11-year-old girl who presented at the emergency department with vulvar ulcers. She denied any sexual intercourse. The investigation excluded sexually transmitted infections, so, knowledge of different etiologies of non-venereal ulcers became essential. The differential diagnoses are extensive and include inflammatory processes, drug reactions, trauma, and malignant tumors. Lipschütz ulcer is a diagnosis of exclusion. With the presentation of this case report, the authors aim to describe the etiology, clinical course, and outcomes of this rare disease, to allow differential diagnosis of genital ulceration.

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Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

Multiple Sclerosis Journal ◽

10.1191/1352458504ms1015oa ◽

2004 ◽

Vol 10 (3) ◽

pp. 266-271 ◽

Cited By ~ 33

Author(s):

B Zakrzewska-Pniewska ◽

M Styczynska ◽

A Podlecka ◽

R Samocka ◽

B Peplonska ◽

...

Keyword(s):

Multiple Sclerosis ◽

Apolipoprotein E ◽

Brain Atrophy ◽

Genetic Factors ◽

Clinical Course ◽

Progression Rate ◽

Disease Course ◽

Familial Cases ◽

Sporadic Cases ◽

The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

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