Soledad Monges

Garrahan Hospital

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Fabiana Lubieniecki

Garrahan Hospital

Norma B. Romero

Assistance Publique – Hôpitaux de Paris

A.L. Taratuto

Instituto de Neurología Cognitiva

Jocelyn Laporte

Institut de génétique et de biologie moléculaire et cellulaire

Johann Böhm

Institut de génétique et de biologie moléculaire et cellulaire

A. Madelaine

Sorbonne Université

Guy Brochier

Institut de Myologie

Gisèle Bonne

Centre de Recherche en Myologie

Ana Lía Taratuto

Instituto de Neurología de Buenos Aires

Emmanuelle Lacène

Institut de Myologie

Cooperative Institutions

Inserm

134

Erasmus MC

132

Aarhus University Hospital

104

Assistance Publique – Hôpitaux de Paris

Garrahan Hospital

Sorbonne Université

Erasmus University Rotterdam

University of Michigan–Ann Arbor

Institut de Myologie

Centre National de la Recherche Scientifique

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Rasmussen syndrome: An Argentinean experience in 32 patients

Seizure (2013)

Roberto Caraballo Sebastián Fortini Ricardo Cersósimo Soledad Monges María Constanza Pasteris

Epilepsia partialis continua

Hemiparesis

10.1016/j.seizure.2013.02.003

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Citations (22)

An International Perspective on Preceding Infections in Guillain-Barré Syndrome

Neurology (2022)

Sonja E. Leonhard Annemiek A. van der Eijk Henning Andersen Giovanni Antonini Samuel Arends

Background and Objectives

Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across geographical regions has been suggested to be related to differences in the distribution of preceding infections, but this has not been studied on a large scale.

Methods

We analyzed the first 1,000 patients included in the International GBS Outcome Study with available biosamples (n = 768) for the presence of a recent infection with Campylobacter jejuni, hepatitis E virus, Mycoplasma pneumoniae, cytomegalovirus, and Epstein-Barr virus.

Results

Serologic evidence of a recent infection with C. jejuni was found in 228 (30%), M. pneumoniae in 77 (10%), hepatitis E virus in 23 (3%), cytomegalovirus in 30 (4%), and Epstein-Barr virus in 7 (1%) patients. Evidence of more than 1 recent infection was found in 49 (6%) of these patients. Symptoms of antecedent infections were reported in 556 patients (72%), and this proportion did not significantly differ between those testing positive or negative for a recent infection. The proportions of infections were similar across continents. The sensorimotor variant and the demyelinating electrophysiologic subtype were most frequent across all infection groups, although proportions were significantly higher in patients with a cytomegalovirus and significantly lower in those with a C. jejuni infection. C. jejuni–positive patients were more severely affected, indicated by a lower Medical Research Council sum score at nadir (p = 0.004) and a longer time to regain the ability to walk independently (p = 0.005). The pure motor variant and axonal electrophysiologic subtype were more frequent in Asian compared with American or European C. jejuni–positive patients (p < 0.001, resp. p = 0.001). Time to nadir was longer in the cytomegalovirus-positive patients (p = 0.004).

Discussion

Across geographical regions, the distribution of infections was similar, but the association between infection and clinical phenotype differed. A mismatch between symptom reporting and serologic results and the high frequency of coinfections demonstrate the importance of broad serologic testing in identifying the most likely infectious trigger. The association between infections and outcome indicates their value for future prognostic models.

Cytomegalovirus

10.1212/wnl.0000000000200885

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Citations (50)

Encefalopatía sarampionosa subaguda retardada

Revista de Neurología (2003)

Roberto Caraballo Soledad Monges Ricardo Cersósimo Laura Cassar Isaac Iván Yépez

We analyze the clinical, neurological, EEG, neuroradiological features and evolution of two patients with subacute measles encephalitis.The patients, aged five years and eleven months respectively showed an acute, progressive neurological compromise and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, with a history of measles in the first case and exposure to the virus in the second. The first patient had Hodgkin's disease and the other had a familial C4 deficit disorder. Fundoscopic examination showed lesions on the retina. The EEG showed unilateral slow waves and spikes. Brain CT and MRI revealed progressive cerebral atrophy and a unilateral corticosubcortical lesion. Measles antibodies in CSF were found in the first child and oligoclonal bands in the second. Our first patient died after three months and the second has a severe neurological damage.In immunocompromised patients with the exposure to a history of measles, acute neurological compromised and deterioration of consciousness, epilepsia partialis continua and progressive damage on neuroimaging, subacute measles encephalitis should be considered.

Epilepsia partialis continua

Subacute sclerosing panencephalitis

10.33588/rn.3704.2002462

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Citations (3)

G.P.12.06 Progressive muscle biopsies morphological changes in MTM1-related centronuclear congenital myopathy

Neuromuscular Disorders (2009)

Fabiana Lubieniecki Valérie Biancalana Norma B. Romero Soledad Monges M. Saccoliti

Congenital myopathy

10.1016/j.nmd.2009.06.290

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Citations (1)

SEVERE ACUTE ENCEPHALOPATHY WITH EXTRAPYRAMIDAL INVOLVEMENT OF UNKNOWN ETIOLOGY

Neuropediatrics (2006)

HA Arroyo Soledad Monges Laura Cassar Liliana Czornyj Víctor Ruggieri

Objectives: Objectives: We describe the clinical features and evolution of six patients with acute encephalopathy (AE) with extrapyramidal involvement and of unknown etiology.

Etiology

Extrapyramidal symptoms

Extrapyramidal disorder

10.1055/s-2006-945699

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Citations (0)

G.P.145

Neuromuscular Disorders (2014)

Soledad Monges Fabiana Lubieniecki Fernanda de Castro V. Lafuente María Paz García‐Portilla

LMNA

Muscle contracture

Dilated Cardiomyopathy

Congenital myopathy

Muscle weakness

Proximal muscle weakness

Limb-girdle muscular dystrophy

Progeria

10.1016/j.nmd.2014.06.175

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Citations (0)

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Journal of Neuropathology & Experimental Neurology (2018)

R. Ávila-Polo Edoardo Malfatti Xavière Lornage Chrystel Chéraud Isabelle Nelson

Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes presenting pathogenic autosomal dominant or autosomal recessive (AR) mutations located in different TTN domains. We identified a consistent pattern characterized by diverse defects in oxidative staining with prominent nuclear internalization in congenital phenotypes (AR-CM) (n = 10), ± necrotic/regenerative fibers, associated with endomysial fibrosis and rimmed vacuoles (RVs) in AR early-onset Emery-Dreifuss-like (AR-ED) (n = 4) and AR adult-onset distal myopathies (n = 4), and cytoplasmic bodies (CBs) as predominant finding in hereditary myopathy with early respiratory failure (HMERF) patients (n = 5). Ultrastructurally, the most significant abnormalities, particularly in AR-CM, were multiple narrow core lesions and/or clear small areas of disorganizations affecting one or a few sarcomeres with M-band and sometimes A-band disruption and loss of thick filaments. CBs were noted in some AR-CM and associated with RVs in HMERF and some AR-ED cases. As a whole, we described recognizable histopathological patterns and structural alterations that could point toward considering the pathogenicity of TTN mutations.

Desmin

10.1093/jnen/nly095

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Citations (25)

Epilepsia mioclónica refleja del lactante: un nuevo síndrome epiléptico reflejo o una variante de la epilepsia mioclónica benigna del lactante

Revista de Neurología (2003)

Roberto Caraballo Laura Casar Soledad Monges Isaac Iván Yépez Santiago Galicchio

We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995.Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizure stimuli sensible. The seizures were characterized by generalized, myoclonic jerks triggered by tactile stimuli in six patients and acoustic stimuli in two, in one of them myoclonic jerks were triggered by both types of stimuli. The seizures appeared between 5 and 20 months of age. Two of the 8 patients had spontaneous myoclonic attacks during sleep. Interictal EEG was normal during wakefulness and occasional discharges were evident during sleep. In contrast, the ictal EEG during both wakefulness and sleep showed generalized spike wave and polyspike slow wave paroxysms. Neurologic examination, neuroimaging and neurometabolic studies were normal. Myoclonic jerks disappeared in 6 patients after valproic acid administration and in two after clobazan administration. Antiepileptic treatment was discontinued in 6 patients and no seizure recurrence was observed during a median follow up of 6 years.Our patients presented electro clinical criteria compatible with the syndrome of reflex myoclonic epilepsy of infancy. This syndrome could be considered to be a new reflex epileptic syndrome or a variant of benign myoclonic epilepsy in infancy.

Myoclonic Jerk

Myoclonic epilepsy

Valproic Acid

Juvenile myoclonic epilepsy

Clonazepam

10.33588/rn.3605.2002437

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Citations (12)

First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study

Neuromuscular Disorders (2017)

Rabah Ben Yaou Ivana Dabaj Pomi Yun Gina Norato Hui Xiong

LMNA

Natural history study

Congenital muscular dystrophy

10.1016/j.nmd.2017.06.165

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Citations (1)

TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

American Journal of Medical Genetics Part A (2012)

Tae‐Joon Cho Kazu Matsumoto Virginia Fano Jin Dai Ok‐Hwa Kim

Abstract Heterozygous missense mutations of transient receptor potential vanilloid 4 channel ( TRPV4 ) cause a spectrum of skeletal disorders, including brachyolmia, spondylometaphyseal dysplasia Kozlowski type, metatropic dysplasia, parastremmatic dysplasia, and spondyloepimetaphyseal dysplasia Maroteaux type. Similarly, heterozygous missense mutations of TRPV4 cause a spectrum of peripheral neuropathy, including hereditary motor and sensory neuropathy type IIC, congenital spinal muscular atrophy, and scapuloperoneal spinal muscular atrophy. There are no apparent differences in the amino acid positions affected or type of change predicted by the TRPV4 mutations responsible for the two disease spectrums; nevertheless, no fundamental phenotypic overlap has been shown between the two spectrums. Here, we report on three patients who had both skeletal dysplasia and peripheral neuropathy caused by heterozygous TRPV4 missense mutations. The skeletal and neurologic phenotypes of these patients covered the wide spectrum of reported TRPV4‐pathies (disease caused by TRPV4 mutations). The molecular data are complementary, proving that “neuropathic” mutations can cause skeletal dysplasia but also the “skeletopathic” mutations can lead to neuropathies. Our findings suggest that pathogenic mechanisms of TRPV4‐pathies in skeletal and nervous systems are not always mutually exclusive and provide further evidence that there is no clear genotype–phenotype correlation for either spectrum. Co‐occurrence of skeletal dysplasia and degenerative neuropathy should be kept in mind in clinical practice including diagnostic testing, surgical evaluation, and genetic counseling. © 2012 Wiley Periodicals, Inc.

TRPV4

10.1002/ajmg.a.35268

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Citations (59)