SERUM CHEMISTRY ABNORMALITIES IN CHILDREN WITH UNPROVOKED SEIZURES

ObjectiveMost children brought to the emergency department (ED) for evaluation of seizures undergo an extensive laboratory workup. Since results are usually negative, the value of such routine laboratory workups has been questioned. A group of children with unprovoked seizures was prospectively studied to determine the diagnostic values of routine serum chemistries and to identify risk factors predictive of abnormal findings.Materials & MethodsAll patients evaluated at the ED of the Ghaem hospital during a consecutive 12 months period between Jan 2004 through Jan 2005 were studied. We collected data for patient's demographics, details of the history of present illness (including vomiting, diarrhea, apnea), medication use, past history of seizures, family history of seizures, metabolic disorders or other chronic medical illnesses, neonatal history and neurological examination as well as nutritional status, type and time of seizure. The role of abnormal serum chemistries as a seizure trigger factor was assessed in patients with a history of seizure.ResultsA total of 210 patients (mean age 19.2 months) with unprovoked seizures were evaluated. Twenty- three serum abnormalities were noted in the patients (12 cases of hyponatremia, 7 of hypoglycemia, 4 of hypokalemia, 4 of uremia). The incidence of abnormal serum biochemical values was higher in patients with a first seizure, younger patients, and those with gastrointestinal symptoms.ConclusionAccording to the present study, one can conclude that in children younger than 2 years and having no structural CNS abnormality, electrolyte and glucose screening is recommended only for a first unprovoked seizure, when gastrointestinal symptoms or symptoms suggesting electrolyte disturbances are present.Keywords:Unprovoked, Seizure, Biochemistry, Childre

THE EFFECT OF NIGELLA SATIVA L. ON INTRACTABLE PEDIATRIC SEIZURES

Background:Despite availability and administration of numerous antiepileptic drugs (AEDs) nearly 15% of childhood epilepsy cases are resistant to treatment; in traditional medicine however Nigella sativa L. (Black seed) has been known for its anticonvulsant effects.Materials and Methods:In this double-blind clinical trial conducted on children with refractory epilepsy we administered the aqueous extract of black seed as an adjunct therapy and compared the effects with those of a placebo. The study was performed between Sep 2003 and Nov 2004. The subjects received either extract or placebo for a period of four weeks and between these two periods for two weeks they received only their pre-existing anti-epileptic drugs (AEDs).Results:The mean frequency of seizures decreased significantly during treatment with extract, (p-value =0/007).Conclusion:It can be concluded that the water extract of Nigella sativa L. has antiepileptic effects in children with refractory seizures that do not respond to known AEDS.keywords:Nigella sativa, Intractable seizures, Childre

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan–Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects. Exome sequencing was performed to identify underlying ITPA pathogenic variants. Brain MRI (magnetic resonance imaging) scans were systematically analyzed to delineate the neuroradiological spectrum. Survival curves according to the Kaplan-Meier method and log-rank test were used to investigate outcome predictors in different subgroups of patients. We identified 18 distinct ITPA pathogenic variants, including 14 novel variants, and two deletions. All subjects showed profound developmental delay, microcephaly, and refractory epilepsy followed by neurodevelopmental regression. Brain MRI revision revealed a recurrent pattern of delayed myelination and restricted diffusion of early myelinating structures. Congenital microcephaly and cardiac involvement were statistically significant novel clinical predictors of adverse outcomes. We refined the molecular, clinical, and neuroradiological characterization of ITPase deficiency, and identified new clinical predictors which may have a potentially important impact on diagnosis, counseling, and follow-up of affected individuals