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1.
Neurology Asia ; : 275-278, 2017.
Article in English | WPRIM | ID: wpr-629172

ABSTRACT

Levetiracetam (LEV), a relatively new antiepileptic drug, is now frequently used for treating partial or generalized seizures. Among the adverse effects of LEV, rhabdomyolysis is rare. We describe here a case of LEV-induced rhabdomyolysis in a 26-year-old woman. The patient’s seizures had been controlled with carbamazepine and phenobarbital for the previous 7 years. However, LEV was initiated at the age of 26 years because her seizures control deteriorated with seizures occurring monthly. She experienced lower limb weakness with a high level of creatine kinase 15 days after starting LEV. When LEV was discontinued, her creatine kinase levels decreased and her symptoms gradually improved. This case provide another example of rhabdomyolysis during the early phase of LEV treatment.


Subject(s)
Rhabdomyolysis
2.
Egyptian Journal of Medical Human Genetics [The]. 2017; 18 (2): 199-203
in English | IMEMR | ID: emr-188483

ABSTRACT

Beta-ketothiolase [mitochondrial acetoacetyl-CoA thiolase, T2] deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine. In this study, we report on the first two siblings with T2 deficiency from Libya. Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive. T2 deficiency in patient 1, the younger sister, manifested as recurrent severe episodes of ketoacidosis during the first year of life. She unfortunately experienced neu-rodevelopmental complications, and died at 14 months old, after her 5th episode. In contrast, patient 2, the elder brother, experienced only one ketoacidotic episode at the age of 4 years. He recovered uneventfully and has continued to achieve age-appropriate development to date. Upon analysis, the siblings' blood acylcarnitine profiles had shown increased levels of C5:l and C5-OH carnitine. ACAT1 mutational analysis revealed patient 2 is homozygotic for a novel mutation-c.674C > A [p.Ala225Glu]; this mutation was then confirmed by familial analysis. Transient expression analysis of C.674C > A mutant T2 cDNA revealed neither potassium ion-activated acetoacetyl-CoA thiolase activity, which represents T2 activity, nor mutant T2 protein. Therefore, this mutation is truly pathogenic. Interestingly, the incidence of T2 deficiency may be high among the Arab population. This disease should be considered in the differential diagnosis for unexplained ketoacidosis in children. Patients with T2 deficiency could have a favorable outcome if diagnosed and treated early


Subject(s)
Humans , Female , Infant , Child, Preschool , Siblings , Review Literature as Topic , Ketosis , Carnitine Acyltransferases , Acetyl-CoA C-Acyltransferase
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