ABSTRACT
5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombosis.Here we report the cases of two adult siblings who experienced focal epilepsy at 18 years old as a first disease manifestation, without other symptom during several years. Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of seizures, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with MTHFR deficiency in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), encephalopathy (30%), psychotic symptoms (17%), and thrombotic events (21%). A total of 41% presented a single neurological manifestation that could stay isolated during at least 3 years, delaying achievement of the diagnosis. Brain MRI showed a mostly periventricular white matter changes in 71% of cases. All patients stabilized or improved following metabolic treatment.Despite being rare, adolescence/adult onset MTHFR deficiency can nevertheless be successfully treated. Therefore, homocysteinemia should be tested in various unexplained neuro-psychiatric syndromes like epilepsy or spastic paraparesis, even if isolated, since waiting for completion of the clinical picture is likely to increase the risk of irreversible neurological damage.
Subject(s)
Homocystinuria/diagnosis , Homocystinuria/pathology , Metabolic Diseases/diagnosis , Metabolic Diseases/pathology , Methylenetetrahydrofolate Reductase (NADPH2)/deficiency , Muscle Spasticity/diagnosis , Muscle Spasticity/pathology , Adult , Ataxia/diagnosis , Ataxia/pathology , Epilepsy/diagnosis , Epilepsy/pathology , Gait Disorders, Neurologic/diagnosis , Gait Disorders, Neurologic/pathology , Humans , Magnetic Resonance Imaging , Male , Psychotic Disorders/diagnosis , Psychotic Disorders/pathology , Seizures/diagnosis , Seizures/pathologyABSTRACT
We tested whether dreams can anticipate a stressful exam and how failure/success in dreams affect next-day performance. We collected information on students' dreams during the night preceding the medical school entrance exam. Demographic, academic, sleep and dream characteristics were compared to the students' grades on the exam. Of the 719 respondents to the questionnaire (of 2324 total students), 60.4% dreamt of the exam during the night preceding it. Problems with the exam appeared in 78% of dreams and primarily involved being late and forgetting answers. Reporting a dream about the exam on the pre-exam night was associated with better performance on the exam (p=.01). The frequency of dreams concerning the exam during the first term predicted proportionally higher performance on the exam (R=0.1, p=.01). These results suggest that the negative anticipation of a stressful event in dreams is common and that this episodic simulation provides a cognitive gain.
