Abstract | INTRODUCTION: CASE PRESENTATION: A 27-year-old woman was referred to our clinic with severe weight loss after severe vomiting episodes, memory dysfunction and gait ataxia. Family history, as well as clinical, imaging and laboratory findings suggested a mitochondrial aetiology of her symptoms. Brain MRI detected bilateral mild thalamic lesions and loss of corpus mammillae, indicating Wernicke encephalopathy. Genetic testing detected an m.A3243G mtDNA mutation, which has been frequently associated with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. High-dose vitamin B1 supplementation with supportive antioxidant therapy improved the patient's memory and learning disturbance; however, some months later she developed psychosis with predominantly negative symptoms and her cognitive functions deteriorated again. Both cognitive and negative symptoms responded well to cariprazine monotherapy. DISCUSSION: CONCLUSION: We assume that patients with a mitochondrial disorder might be prone to develop WE/WKS and therefore need tailored supportive therapy during metabolic crisis as well as symptom-based personalized antipsychotic treatment.
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Authors | Idris Janos Jimoh, Barbara Sebe, Peter Balicza, Mariann Fedor, Ilona Pataky, Gabor Rudas, Aniko Gal, Gabriella Inczedy-Farkas, Gyorgy Nemeth, Maria Judit Molnar |
Journal | Therapeutic advances in neurological disorders
(Ther Adv Neurol Disord)
Vol. 13
Pg. 1756286420938972
( 2020)
ISSN: 1756-2856 [Print] England |
PMID | 32821290
(Publication Type: Case Reports)
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Copyright | © The Author(s), 2020. |