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Master Thesis

Place des maladies mitochondriales dans une cohorte de patients porteurs d'épilepsie à début précoce évalués dans un centre de référence entre 2007 et 2017

Abstract : Introduction: neurological symptoms in mitochondrial diseases (MD) have been reported as the most frequent in pediatric patients. A biochemical deficiency of the mitochondrial respiratory chain (MRC) does not allow to distinguish with certainty between primary mitochondrial diseases (PMD) and secondary mitochondrial dysfunction (SMD). Our primary objective was to define how PMD were involved in early epilepsies. Our secondary objective was to search for a difference in clinical or paraclinical presentation between patients with PMD and SMD, and according to overall PMD probability. Material and methods: we included patients with epilepsy onset before 2 years and for whom at least one tissular biopsy was sent to the National Center for Mitochondrial Diseases of the Nice University Hospital, from 2007 to 2017. Patients with certain diagnosis were divided between PMD, SMD and other diagnoses without biochemical deficiency. All the patients were then divided between 3 groups of PMD probability (high, intermediate, low). Results: among 62 included patients, 20 had an established diagnosis (6 PMD, 8 SMD and 6 other diagnoses without biochemical deficiency). Survival probability was significantly higher in the SMD group. We did not find any statistically significant difference in clinical or paraclinical parameters between PMD and SMD groups. We observed a trend for a higher frequency of classical biochemical findings and MRI findings in the PMD group. We found a significantly different death rate between PMD probability groups. We did not find a specific pattern of respiratory chain complexes deficiency. Conclusion: classical biochemical findings are possibly more frequent in the PMD group than in the SMD group in patients with epilepsy onset before 2 years, and therefore might guide genetic explorations. WES takes a growing importance in diagnosis for these patients. Patient referral toward reference centers and collaborative work between centers is mandatory for optimal care.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02613825
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Submitted on : Wednesday, May 20, 2020 - 2:03:26 PM
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  • HAL Id : dumas-02613825, version 1

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Julien Neveu. Place des maladies mitochondriales dans une cohorte de patients porteurs d'épilepsie à début précoce évalués dans un centre de référence entre 2007 et 2017. Médecine humaine et pathologie. 2019. ⟨dumas-02613825⟩

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