Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency
| Autor: | Austin Larson, Can Ficicioglu, Johan L.K. Van Hove, Nicholas V. Stence, Emily Shelkowitz |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Adolescent Chemistry medicine.medical_treatment Pyruvate dehydrogenase complex Magnetic Resonance Imaging 03 medical and health sciences Serial magnetic resonance imaging 030104 developmental biology 0302 clinical medicine Child Preschool Pediatrics Perinatology and Child Health medicine Brain lesions Humans Female Neurology (clinical) Gray Matter Diet Ketogenic Pyruvate Dehydrogenase Complex Deficiency Disease 030217 neurology & neurosurgery Ketogenic diet |
| Zdroj: | Journal of child neurology. 35(2) |
| ISSN: | 1708-8283 |
| Popis: | Objectives:To report 2 additional cases of pyruvate dehydrogenase complex deficiency with reversible deep gray matter lesions following initiation of ketogenic diet and to perform a literature review of serial imaging in patients with pyruvate dehydrogenase complex.Methods:Clinical data on 3 previously unpublished cases of patients with pyruvate dehydrogenase complex deficiency and with serial magnetic resonance imagings (MRIs) before and after institution of ketogenic diet were reported. A systematic literature review was performed to search for published cases of patients with confirmed pyruvate dehydrogenase complex deficiency who underwent serial MRIs.Results:The 3 subjects in this series demonstrated clinical improvement on ketogenic diet. Two subjects showed reversal of some brain lesions on repeat MRI following initiation of ketogenic diet. Of the 21 published cases with serial MRIs, 13 patients underwent some form of treatment, and of this smaller subset 4 patients had repeat MRIs that showed definitive improvement. In both our described cases and those published in the literature, improvement occurred in lesions in the basal ganglia.Conclusions:In patients with pyruvate dehydrogenase complex deficiency, basal ganglia lesions on MRI are reversible with treatment in some cases and could serve as a biomarker for measuring response to treatment. |
| Databáze: | OpenAIRE |
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