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Chanson JB Anheim M Lagha-Boukbiza O Fleury M Sellal F Tranchant C 《Revue neurologique》2008,164(5):477-480
INTRODUCTION: Cerebral calcifications are a cause of secondary dystonia and may be an uncommon complication of radiotherapy. We report a very severe case of generalized dystonia due to postradiotherapy basal ganglia calcifications. CASE REPORT: An 8-year-old girl received 53 grays radiotherapy after surgery for craniopharyngioma. One year later she developed generalized dystonia. Computed tomography showed bilateral basal ganglia calcifications, especially of the lenticular nuclei. Pharmacological treatment with tetrabenazine, clonazepam and trihexiphenydile allowed a very limited improvement of dystonia; the course was complicated by dystonic storms and decompensations resulting from the iatrogenous panhypopituitarism. CONCLUSION: This case illustrates a severe complication of cranial irradiation which should be considered in the indications of this treatment, especially for children. 相似文献
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Marie des Neiges Santin MD Paul Voulleminot MD Agathe Vrillon MD Elodie Hainque MD Matthieu Béreau MD Ouhaid Lagha-Boukbiza MD Thomas Wirth MD Solveig Montaut MD Eric Bardinet PhD Maeva Kyheng BST Anne-Sophie Rolland PhD Jimmy Voirin MD Sophie Drapier MD Franck Durif MD PhD Alexandre Eusebio MD PhD Caroline Giordana MD Nicolas Auzou PhD Jean-Luc Houeto MD PhD Cécile Hubsch MD Béchir Jarraya MD PhD Chloé Laurencin MD David Maltete MD PhD Mylène Meyer MSc Olivier Rascol MD PhD Tiphaine Rouaud MD Mélissa Tir MD Caroline Moreau MD Jean-Christophe Corvol MD PhD François Proust MD PhD David Grabli MD PhD David Devos MD PhD Christine Tranchant MD PhD Mathieu Anheim MD PhD for the Predistim Study Group 《Movement disorders》2021,36(3):750-757
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Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
Mathieu Anheim Ouhaïd Lagha-Boukbiza Marie-Céline Fleury-Lesaunier Maria-Paola Valenti-Hirsch Edouard Hirsch Hélène Gervais-Bernard Emmanuel Broussolle Stéphane Thobois Marie T. Vanier Philippe Latour Christine Tranchant 《Journal of neurology》2014,261(1):174-179
Niemann-Pick type C disease (NPC) is a recessive neurolipidosis. We report five adolescent and adult NPC cases to underscore the frequency and heterogeneity of movement disorders in NPC. Clinical, morphologic, biochemical and genetic study was performed in the five patients. Disease onset was between 8 and 50 years. Movement disorders were present in all cases, were heterogeneous and often combined [cerebellar ataxia (5/5), myoclonus (3/5), dystonia (2/5), chorea (1/5) and tremor (1/5)] and were the first sign in 4/5. Two patients were reported to have no vertical supranuclear gaze palsy (VSGP) at the first examination. Two patients experienced acute neuropsychiatric signs leading to death in one case due to myoclonic storm. Filipin staining was always positive. Two NPC1 mutations were identified in three patients, only one in two siblings. NPC should be considered in case of unexplained movement disorders, even when VSGP or cataplexy are not reported. Filipin staining remains a strong support for the diagnosis. Treatment with miglustat should be considered which is currently the only approved disease-specific treatment of NPC in children and adults. 相似文献
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Moreau C Delval A Defebvre L Dujardin K Duhamel A Petyt G Vuillaume I Corvol JC Brefel-Courbon C Ory-Magne F Guehl D Eusebio A Fraix V Saulnier PJ Lagha-Boukbiza O Durif F Faighel M Giordana C Drapier S Maltête D Tranchant C Houeto JL Debû B Sablonniere B Azulay JP Tison F Rascol O Vidailhet M Destée A Bloem BR Bordet R Devos D;Parkgait-II study group 《Lancet neurology》2012,11(7):589-596
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Carré G. Dietemann J. L. Gebus O. Montaut S. Lagha-Boukbiza O. Wirth T. Kremer S. Namer I. J. Anheim M. Tranchant C. 《Journal of neurology》2020,267(5):1269-1277
Journal of Neurology - The second consensus statement for the diagnosis of multiple system atrophy type cerebellar (MSA-C) includes pons and middle cerebellar peduncle (MCP) atrophy as MRI... 相似文献