Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia

Mohamed, Sarar; Melegy, Ebtessam M. El; Talaat, Iman M.; Hosny, Amany; Abu-Amero, Khaled K.

doi:10.1016/j.pedneo.2015.02.004

Cited by 14 publications

(23 citation statements)

References 16 publications

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“…Biotinidase deficiency was only suspected when results from tests showed high anion gap metabolic acidosis with lactic acidosis, euglycemia, ketonuria and suggestive skin changes such as alopecia, despite having a normal plasma ammonia level. The patient was then treated with oral biotin (10 mg/day) which normalized his metabolic acidosis within hours and his encephalopathy and seizures disappeared within 48 h. Complete seizure control from biotin treatment for biotinidase deficiency was also found in studies by Singhi and Ray [ 17 ] and Mohamed, et al [ 50 ]. The study by Singhi and Ray [ 17 ] showed that when biotin was discontinued for about a month, the patient developed alopecia and had low levels of serum biotinidase.…”

Section: Resultsmentioning

confidence: 68%

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

Lee

Choo

Chung

et al. 2018

IJMS

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Metabolic epilepsy is a metabolic abnormality which is associated with an increased risk of epilepsy development in affected individuals. Commonly used antiepileptic drugs are typically ineffective against metabolic epilepsy as they do not address its root cause. Presently, there is no review available which summarizes all the treatment options for metabolic epilepsy. Thus, we systematically reviewed literature which reported on the treatment, therapy and management of metabolic epilepsy from four databases, namely PubMed, Springer, Scopus and ScienceDirect. After applying our inclusion and exclusion criteria as per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we reviewed a total of 43 articles. Based on the reviewed articles, we summarized the methods used for the treatment, therapy and management of metabolic epilepsy. These methods were tailored to address the root causes of the metabolic disturbances rather than targeting the epilepsy phenotype alone. Diet modification and dietary supplementation, alone or in combination with antiepileptic drugs, are used in tackling the different types of metabolic epilepsy. Identification, treatment, therapy and management of the underlying metabolic derangements can improve behavior, cognitive function and reduce seizure frequency and/or severity in patients.

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Section: Resultsmentioning

confidence: 68%

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

Lee

Choo

Chung

et al. 2018

IJMS

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“…Similar results were reported by Kroczka et al [8] who showed that structural/ metabolic epilepsy (previously known as symptomatic epilepsy) is common in infants admitted with seizures. This type of epilepsy usually results from organic brain lesions that present with developmental delay, neurological abnormalities and abnormal EEG [8,10]. In our study, perinatal insults (mainly hypoxic ischemic encephalopathy) were the most common cause of structural/metabolic epilepsy, followed by metabolic disorders, infections, and trauma.…”

Section: Discussionmentioning

confidence: 75%

“…In contrast, genetic epilepsy occurs in patients with a specific genetic error such as autosomal dominant nocturnal frontal lobe epilepsy [6]. It is occasionally difficult to determine the aetiology of epilepsy especially in the first year of life [9,10]. This study aimed to describe the pattern and identify the aetiology of epilepsy in children presenting in the first 2 years of life using the classification proposed by the ILAE in 2010.…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics and aetiology of early childhood epilepsy: a single centre experience in Saudi Arabia

et al. 2018

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Seizures in children and neonatal period have variety of causes; however, most of childhood seizures are idiopathic. The aim of this study was to review the causes of epilepsy in children presenting in the first 2 years of life using the International League Against Epilepsy classification released in 2010. This was a retrospective chart review study that was conducted at a tertiary center in Saudi Arabia. Two hundred and twenty-one patients were included in the study, 31 with conditions mimic epilepsy were excluded. The remaining 190 patients were classified into: Group A, structural/metabolic, 82 (43%); Group B, genetic, 24 (13%) and Group C, unknown, 84 (44%). The commonest seizures' type was tonic-clonic in 106 (56%), followed by clonic 29 (15.3%), myoclonic 22 (11.6%) and a tonic 16 (8.4%). Pyramidal signs, global developmental delay, hypotonia, micro/macrocephaly and abnormal computed tomography and/or magnetic resonance imaging brain were more common in the structural/metabolic group ( < 0.05). Electroencephalography was abnormal in 136 (72%) patients, mostly in the structural/metabolic group ( = 0.011). In conclusion, the aetiology of epilepsy in this cohort was mainly unknown or secondary to structural/metabolic causes.

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“…NKH patients manifesting with WS have been reported (Table ). Because the prognosis is very poor in neonatal‐onset NKH, Korman et al .…”

Section: Metabolic Errors In Organic Moleculesmentioning

confidence: 99%

Metabolic etiologies in West syndrome

2018

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SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.

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Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia

Abstract: Different metabolic disorders were identified in this cohort, which caused different types of epilepsy, especially myoclonic seizures and infantile spasms.

Cited by 14 publications

References 16 publications

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

Clinical characteristics and aetiology of early childhood epilepsy: a single centre experience in Saudi Arabia

Metabolic etiologies in West syndrome

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