O Lagha-Boukbiza

Publications (3)1.46 Total impact

• Article: L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.

  C Marcel, M Mallaret, O Lagha-Boukbiza, S Kremer, A Echaniz-Laguna, C Tranchant
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  ABSTRACT: L-2-hydroxyglutaric aciduria is a rare metabolic disorder with quite typical radiological abnormalities and various clinical symptoms. A 19-year-old girl presented with ataxia, facial dyskinesia, and mild cognitive impairment. Cerebral magnetic resonance imaging demonstrated subcortical white matter T2 abnormalities and a suggestive rim hyperintensity around the caudate nuclei and the putamen. Diagnosis was confirmed by increased 2-hydroxyglutaric acid in urine and a genetic study (Gly260Ala mutation in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene). This case highlights the movement disorder onset and radiological aspects that should indicate the L-2-hydroxyglutaric aciduria diagnosis.
  Revue Neurologique 02/2012; 168(2):187-91. · 0.49 Impact Factor
• Article: [Severe generalized dystonia due to postradiotherapy cerebral calcifications].

  J-B Chanson, M Anheim, O Lagha-Boukbiza, M Fleury, F Sellal, C Tranchant
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  ABSTRACT: 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. 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. This case illustrates a severe complication of cranial irradiation which should be considered in the indications of this treatment, especially for children.
  Revue Neurologique 06/2008; 164(5):477-80. · 0.49 Impact Factor
• Article: Dystonie généralisée sévère liée à des calcifications cérébrales postradiques

  J.-B. Chanson, M. Anheim, O. Lagha-Boukbiza, M. Fleury, F. Sellal, C. Tranchant
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  ABSTRACT: IntroductionCerebral 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 reportAn 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.
  Revue Neurologique 164(5):477-480. · 0.49 Impact Factor