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Caraballo R.H.,Servicio de Neurologia | Chamorro N.,Servicio de Neurologia | Darra F.,Neuropsichiatria Infantile | Fortini S.,Servicio de Neurologia | Arroyo H.,Servicio de Neurologia
Pediatric Neurology | Year: 2013

Epilepsy with myoclonic-atonic seizures is characterized by myoclonic-atonic, absence, tonic-clonic, and eventually tonic seizures, appearing in previously normal children at ages 18-60 months. We analyzed the electroclinical features, treatment, and outcome of 69 patients with myoclonic-atonic seizures; these patients were followed between 1990 and 2012 at the Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina. No structural or metabolic etiology was identified. Based on the electroclinical features and evolution, two groups could be distinguished. The first group of 39 patients with myoclonic and myoclonic-atonic seizures with or without generalized tonic-clonic seizures and absences associated with generalized spike- and polyspike-and-wave paroxysms had excellent prognoses. The second group of 30 patients had myoclonic jerks and myoclonic-atonic seizures associated with other seizure types including tonic seizures; some had myoclonic status epilepticus and cognitive deterioration. The interictal EEG showed frequent generalized spike- and polyspike-and-wave paroxysms. In 16 patients, the seizures remitted within 3.6 years. The two groups were distinguished in retrospect, when enough time had elapsed to evaluate cognitive deterioration and different seizure types. In conclusion, epilepsy with myoclonic atonic seizures is an epileptic syndrome with a broad clinical spectrum and variable prognosis. © 2013 Elsevier Inc. All rights reserved.

Colonna F.,Science di Pediatria | Moretto E.,Science di Pediatria | Costa P.,Neuropsichiatria Infantile | Zennaro F.,Radiologia A Indirizzo Pediatrico
Medico e Bambino | Year: 2011

An 11-month-old female was admitted to our hospital for anorexia, pallor and developmental regression. She had been exclusively breast-fed. Mother with thyroiditis, non vegetarian. Hemogram in the baby revealed macrocytic anaemia (8.4 g/dl Hb, MCV 99); serum folate level was normal, cobalamine level not measurable. Subsequently, cobalamine deficiency and autoimmune gastritis were diagnosed in her mother. Cerebral NMR revealed fronto-temporal subatrophy. Intramuscular cobalamine injections in daily dose of 1,000 μg were given. After few days of treatment, involuntary movements appeared (controlled by clonazepam). Later, favourable clinical course and slow but progressive improvement of neurological development were observed. Seven months later, serum haemoglobin and cobalamine level were normal and cerebral NMR almost completely normalized. We remark the importance of macrocytosis in the diagnosis of cobalamine deficiency.

Bianciardi G.,University of Siena | Lamberti I.,Emergenza Territoriale | Sartini S.,University of Siena | Servi M.,Medicina Generale | And 3 more authors.
Clinical Hemorheology and Microcirculation | Year: 2013

Rett syndrome (RTT) is a post-natal neurological disorder that represents the second most common cause for mental retardation. The presence of cold hands and feet, and blue, a feature frequently observed in these patients, is one of the non-neurological phenotypes that characterizes RTT, up to now not well explained. We have performed videocapillaroscopy in subjects affected by Rett syndrome. We have observed ramified and bushy capillaries, characteristic features of neoangiogenic capillaries, dilated capillaries and an irregular and chaotic microvascular pattern. To quantify these features and to evaluate the microvascular pattern complexity, we have performed a fractal analysis. Fractal dimension and Lempel-Ziv indexes resulted higher in Rett females than in age-matched healthy females (p < 0.001; p < 0.001). Our findings indicate the presence of previously unrecognized microvascular abnormalities in Rett syndrome. © 2013 - IOS Press and the authors. All rights reserved.

Bachetti T.,CNR Institute of Molecular Genetics | DiZanni E.,CNR Institute of Molecular Genetics | Lantieri F.,CNR Institute of Molecular Genetics | Lantieri F.,University of Genoa | And 13 more authors.
Annals of Human Genetics | Year: 2010

The Glial Fibrillary Acidic Protein (GFAP) gene encodes a cytoskeletal protein belonging to the intermediate filament family whose expression is considered as a marker of astrocytes differentiation. GFAP expression, shown to be upregulated as a consequence of brain gliosis, depends on hormones, growth factors, cytokine, and transcription factors and, among these latters, activator protein 1 (AP-1) has been demonstrated to play a crucial role. In this study, we have focused on a 2.2 kb sequence of the regulatory region located upstream of the GFAP gene, searching in a panel of control individuals for single-nucleotide polymorphisms (SNPs) that could modulate GFAP transcription. Among four SNPs of the GFAP promoter whose alleles have been predicted by in silico analysis to induce differences in the pattern of binding transcription factors, we have identified a new AP-1 binding site lying at -250 bp upstream from the GFAP transcriptional start site. The two alleles of this polymorphic locus have shown to bind the AP-1 complex to different extents, thus promoting variable transcriptional activities of the GFAP promoter. Therefore, these SNP alleles may, among others, mediate the effects of GFAP mutations, thus explaining the phenotypic heterogeneity of Alexander disease. © 2010 The Authors Annals of Human Genetics © 2010 Blackwell Publishing Ltd/University College London.

Lalli S.,Neurologia I | Canavese C.,Neuropsichiatria Infantile | Zorzi G.,Neuropsichiatria Infantile | Nardocci N.,Neuropsichiatria Infantile | And 2 more authors.
Expert Opinion on Medical Diagnostics | Year: 2011

Introduction: There is a general agreement among movement disorder specialists that the recognition of dystonia may be underestimated. In parallel, the growing interest and the improving knowledge of genetic and physiopathological aspects of dystonias require systematization. Areas covered: This review focuses on the phenomenology and etiology of pediatric and adult dystonias. It is designed to provide practical help for neurologists and neuropediatricians to make appropriate diagnoses and plan the therapeutical management of these disorders. The reader will get a systematization of the main etiological and diagnostic aspects that differentiate child-onset from adult-onset dystonias. The reader will also gain insights into specific treatments or cures. Expert opinion: Because dystonia can vary in clinical presentation and etiology, proper diagnosis and classification of these disorders are important in making therapeutic decisions. © 2011 Informa UK, Ltd.

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