المؤلفون: Julita Medina, Jessica Expósito-Escudero, Andrés Nascimento, Cecilia Jimenez-Mallebrera, Laura Carrera-García, Juan José Lazaro, Daniel Cuadras, Carlos Ortez, Magda Bosch de Basea, Daniel Natera-de Benito, Jordi Muchart, Jaume Colomer

المصدر: European Journal of Paediatric Neurology. 31:92-101

مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Oligonucleotides, Scoliosis, Radiography, Interventional, Neurosurgical Procedures, Muscular Atrophy, Spinal, 03 medical and health sciences, Imaging, Three-Dimensional, 0302 clinical medicine, Lumbar, 030225 pediatrics, Humans, Medicine, Child, Injections, Spinal, Cobb angle, medicine.diagnostic_test, business.industry, Lumbar puncture, Decision Trees, Infant, General Medicine, Spinal muscular atrophy, medicine.disease, SMA, Surgery, Spinal anatomy, Child, Preschool, Pediatrics, Perinatology and Child Health, Feasibility Studies, Female, Nusinersen, Neurology (clinical), Tomography, X-Ray Computed, business, Algorithms, 030217 neurology & neurosurgery

الوصف: The approval of nusinersen for the treatment of spinal muscular atrophy (SMA) has significantly changed the natural history of the disease. Nevertheless, scoliosis secondary to axial muscle weakness occurs at some point in most of patients with SMA and a conventional posterior interlaminar approach for intrathecal administration of nusinersen can be particularly challenging to perform in patients with severe scoliosis and/or previous spine fusion surgeries. We developed a protocol for the administration of nusinersen in pediatric patients, which includes a decision-tree algorithm that categorizes patients according to the estimated technical difficulty for the intrathecal administration. Complex spine patients were defined as those with a Cobb angle greater than 50° and/or a history of spinal surgery, while the rest of patients were considered non-complex. Nusinersen was successfully administered through a conventional non-CT-guided lumbar puncture in all 14 non-complex spine patients (110 out of 110 procedures; 100%). The feasibility of the intrathecal injection in the 15 complex spine patients was assessed by 3D CT. Administration was considered unfeasible in 7 out of these 15 patients according to imaging. In the 8 complex spine patients in whom the administration was considered feasible, conventional non-CT-guided lumbar punctures were successful only in 19 out of 53 procedures (36%). The remaining 34 procedures (64%) were guided by CT scan, all successful. Our work demonstrates that a cut-off point of 50° in Cobb angle and history of spinal surgery can reliably be used to anticipate the need for CT guidance in nusinersen administration.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86830f9eea863686abc9710a8780b214Test
https://doi.org/10.1016/j.ejpn.2021.02.009Test

المؤلفون: Magda Bosch de Basea, Daniel Natera-de Benito, Carlos Ortez, Andrés Nascimento, Juan José Lazaro, Cecilia Jimenez-Mallebrera, Jessica Expósito-Escudero, Jordi Muchart, Daniel Cuadras, Julita Medina, Jaume Colomer, Laura Carrera-García

المصدر: European Journal of Paediatric Neurology. 37:167-168

مصطلحات موضوعية: business.industry, Spinal anatomy, Decision tree learning, Pediatrics, Perinatology and Child Health, Medicine, Nusinersen, Neurology (clinical), General Medicine, Anatomy, business, SMA, Administration (government)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::40a82f3a19215613e4ce24042f7f3b19Test
https://doi.org/10.1016/j.ejpn.2021.04.001Test

المؤلفون: Marta Galván, Emilio Fernández-Alvarez, Clare Short, Anirban Majumdar, Jaume Colomer, P Póo, Lokesh Lingappa, Jesús Lopez-Casas, Philip Jardine

المصدر: European Journal of Paediatric Neurology. 13:466-472

مصطلحات موضوعية: Obsessive-Compulsive Disorder, medicine.medical_specialty, Adolescent, Psychological intervention, Anxiety, Young Adult, medicine, Humans, Hemifacial Spasm, Bites and Stings, Botulinum Toxins, Type A, Young adult, Neurologic Examination, Dystonia, Tetany, Diazepam, Foot, Muscle Relaxants, Central, business.industry, Mental Disorders, General Medicine, medicine.disease, Magnetic Resonance Imaging, Botulinum toxin, Sudomotor, Treatment Outcome, Complex regional pain syndrome, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, business, Complex Regional Pain Syndromes, Autonomic Nerve Block, Hemifacial spasm, medicine.drug

الوصف: We describe the clinical features, investigations and outcome of 4 adolescents aged 13, 16, 17 and 19 years, with fixed dystonia. The diagnosis was made within 6 months of the onset of symptoms. One patient had an identifiable traumatic precipitant. All the affected extremities had pain, sudomotor and vascular changes which were consistent with complex regional pain syndrome. The extremities affected by dystonia were the foot and the hand. The dystonia spread to affect other extremities in one patient. One patient had hemifacial spasm. Examination of the central and peripheral nervous system and allied investigations failed to reveal an organic cause. Common genetic causes for dystonia were excluded. The response to physical treatments for the affected extremities, such as Botulinum Toxin and surgery was poor. In all our cases there were significant psychological and psychiatric factors. Three patients fully met the criteria for psychogenic dystonia and responded well to psychological intervention. Fixed dystonia in adolescents is an uncommon disorder of unknown aetiology, usually presenting in girls, which can be very disabling and difficult to treat. The affected parts of the body are usually painful and show vascular changes. The condition is allied to CRPS. Treatment with multidisciplinary approach including psychological measures and physiotherapy is more likely to be successful and may prevent unnecessary physical measures.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a94859333d7501ad66f8094d43c8f22Test
https://doi.org/10.1016/j.ejpn.2008.09.005Test

المؤلفون: Jorge Alberto Diaz Manera, Ana Töpf, Daniel Natera-de Benito, Juan J. Vílchez, Carlos Ortez, Andrés Nascimento, Hanns Lochmüller, Jaume Colomer Oferil, J. Domínguez-Carral

المصدر: European Journal of Paediatric Neurology. 21:e222

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, Myasthenic syndromes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e5ceb1311c7d4d56d6158bba8388ed2cTest
https://doi.org/10.1016/j.ejpn.2017.04.1222Test

المؤلفون: Jaume Colomer, J. Dominguez, Raquel Montero, Andrés Nascimento, Delia Yubero, Cristina Jou, Maria del Mar O’Callaghan, Rafael Artuch, Judith Armstrong, F.J. Ramos, R. Marti, Carlos Ortez, C. Jimenez Mallebrera, Angeles Garcia-Cazorla, J. Montoya

المصدر: European Journal of Paediatric Neurology. 19:S119-S120

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, Hyperlordosis, Late onset, General Medicine, Electromyography, Biology, Phenotype, Hypotonia, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Myopathy, Gene

الوصف: Objective The aim of this study is to describe the phenotype of 4 Spanish patients and the finding of a novel mutation in TK2 gene. Methods We report 4 unrelated male patients from non-consanguineous families. Details of the clinically features, biochemical, anatomy pathology and genetic findings are presented. Results 3/4 showed a similar phenotype with normal early development until a progressive hypotonia and muscular weakness with a fast motor regression started between 14 and 24 months old. The other patient showed a mild late onset phenotype, starting the clinical symptoms at 4 years old with facial and hand-feet distal muscle weakness. Currently he is able to walk independently with severe hyperlordosis, facial and scapular muscle weakness. All patients presented a mild increase of serum CK and lactate levels. Electromyography showed a myopathy pattern. Muscle biopsy showed dystrophic features and COX negative fibres, lipid vacuoles and ragged red fibres (RRF) in 4/4 patients, but the patient with the mild-late onset phenotype had a less severe pattern. Genetic studies showed more than 80% of depletion in mtDNA in the muscles of all of them. The one with late-onset mild phenotype showed a less reduced percentage of depletion in mtDNA in muscle (50–60%). Sequence analysis of the TK2 gene found two heterozygous pathogenic mutations as previously described in the literature. A novel mutation (c.623A>G; p.Tyr208Cys) was found in one patient with a significant reduction of TK2 activity studied in fibroblast. Conclusion Severe and fast progressive muscle weakness in early childhood should lead the clinicians to search for evidence of mitochondria dysfunction and alert about a possible TK2 deficiency diagnosis. The new approach with dTMP–dCMP in early stages of this disorder should be considered.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3dfca0aa12f84ec42f82baee5a883f53Test
https://doi.org/10.1016/s1090-3798Test(15)30404-9

المؤلفون: Nuria Muelas, Juan J. Vílchez, Jaume Colomer, Andrés Nascimento, Teresa Jaijo, Carlos Ortez, J. Domínguez-Carral, D. Natera-de Benito, R. Arteaga

المصدر: European Journal of Paediatric Neurology. 19:S66

مصطلحات موضوعية: Diplopia, medicine.medical_specialty, Pediatrics, Proximal muscle weakness, Neck muscle weakness, biology, business.industry, Facial weakness, General Medicine, Congenital myasthenic syndrome, medicine.disease, Surgery, Ophthalmoparesis, Ptosis, Pediatrics, Perinatology and Child Health, medicine, biology.protein, CHRNE, Neurology (clinical), medicine.symptom, business

الوصف: Objective Mutations in CHRNE are the cause of approximately 50% of CMS. ɛ1267delG frameshifting mutation is present on at least one allele of 60% of patients with CHRNE mutations. We here present a description of the clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR ɛ subunit in 13 members of two large Roma kindreds. Methods Thirteen patients from two unrelated families were followed up over a mean period of 9.9 years. Results We trace 65 and 108 members in six and seven generations of each family, respectively. We interviewed and examined 13 clinically affected family members, 9 women and 4 men. Disease onset ranged from first weeks after birth to 12 years (mean 3.7 years; median 2 years). Ophthalmoparesis was observed in nine patients and subjective diplopia was present in all thirteen cases. Bilateral symmetric ptosis was found in ten patients. Facial weakness was encountered in eleven patients. Mild bulbar symptoms were reported in ten patients. Proximal muscle weakness was found in ten patients. It entailed restricted ambulation in 8 patients. A rapid progression of the disease was noted in two patients. The disease course have remained stable in eight patients. Three patients had a significant fluctuation of their symptoms. All the thirteen patients responded positively to pyridostigmine. In 6 patients, addition of 3,4-diaminopyridine resulted in further clinical improvement. Conclusion Founder European Roma mutation 1267delG leads to an heterogeneous phenotype with a varying severity. It is further characterized by ophthalmoplegia and a good response to anticholinesterase drugs and 3,4-DAP; but also by ptosis, facial weakness, bulbar symptoms, neck muscle weakness, and proximal muscle weakness that entails the loss of ambulation in 63% of our adult patients. The disease course can be stable but also progressive in nearly 40%, with or without fluctuations.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7398dcf3a52ba052a57f827b1d3102fTest
https://doi.org/10.1016/s1090-3798Test(15)30219-1

المؤلفون: Natera-de Benito, Daniel, Topf, Ana, Dominguez-Carral, Jana, Vilchez, Juan Jesus, Diaz Manera, Jorge Alberto, Ortez, Carlos, Oferil, Jaume Colomer, Lochmuller, Hanns, Nascimento, Andres

المصدر: European Journal of Paediatric Neurology; Jun2017 Supplement 1, Vol. 21, pe222-e222, 1p