RESUMEN
Objective: Patients with epilepsy are instructed to avoid high-risk situations such as certain occupations and driving to prevent harm to themselves and others. There is considerable variation in standards to decide if a patient with epilepsy is fit to drive among various countries worldwide, and these patients often continue to drive despite being advised not to. The objective of this study was to determine if patients with epilepsy and uncontrolled epilepsy are driving, the awareness of epilepsy patients regarding driving, and whether physicians are advising the patients to stop driving.Methods: A clinic-based study was conducted in Saudi Arabia from June 2018 through January 2019 with structured interviews of consecutively recruited male patients with established epilepsy diagnosis. Demographic factors, employment status, control of seizures, and awareness of driving restrictions were documented.Results: The response rate was 80.6%. Of the 121 participants (mean age of 35.97 years), 110 (90.9%) were driving, and 39% of those patients were married. Also, 76.9% of participants were employed. Of the participants, 48.8% had 1 seizure in the last 6 months, and 88% of those patients were driving; 51.2% had not had a seizure in the last 6 months, and 93% of those patients were driving. Additionally, 17.4% reported a seizure attack while driving. Only 38% of respondents were aware they should stop driving, whereas 62% were unaware of driving restrictions.Conclusions: There is a definite need to establish a driving policy for patients with epilepsy and to optimize the standards of care of epilepsy patients in Saudi Arabia to ensure minimization of harm to both patients and the public.
Asunto(s)
Conducción de Automóvil , Epilepsia , Adulto , Epilepsia/complicaciones , Epilepsia/epidemiología , Hábitos , Humanos , Masculino , Arabia Saudita , Centros de Atención TerciariaRESUMEN
MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life. Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease. Diagnosis is confirmed by the elevation of and concentrations of 3-MG acid and 3-methylglutaric acid in the urine or by identification of bi-allelic SERAC1 pathogenic variants on molecular genetic testing. Different pathological variants of SERAC1 have been identified in MEGDEL syndrome to date. Here, we report a case of a child with MEGDEL syndrome due to SERAC1 mutation. The child presented with accidental finding by CT showing hypodensity on bilateral symmetric anterior putamen and caudate abnormal. Neurological examination was unremarkable. This report presents a new neuroimaging finding by CT of MEGDEL syndrome.