Vitamin-Responsive Epileptic Encephalopathies in Children

Agadi, Satish; Quach, Michael; Haneef, Zulfi

doi:10.1155/2013/510529

Cited by 13 publications

(21 citation statements)

References 87 publications

(127 reference statements)

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“…The proposed mechanism is thought to be due to irregular myelination. 26 While seizures are generally tonic-clonic in nature (56%), others have reported myoclonic, infantile spasms and Ohtahara syndrome. 27 Lactic acidosis, hyperventilation, and laryngeal stridor are seen in severe cases.…”

Section: Biotinidase Deficiencymentioning

confidence: 99%

Inborn Errors of Metabolism in Pediatric Epilepsy

Cosnahan¹,

Campbell²

2019

The Journal of Pediatric Pharmacology and Therapeutics

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Patients with refractory epilepsy from inborn errors of metabolism typically present as neonates. Direct supplementation with the deficient vitamin or cofactor is recommended, and case series report both efficacy and safety data of these agents. Some conditions may also occur together, necessitating multiple treatments. Despite effective and early treatment, patients are at heightened risk for neurological sequela. The literature on seizures related to metabolic deficiencies for pediatric patients is limited but has some guidance on appropriate dosing and monitoring for agents to target specific deficiencies, which may help with narrowing antiepileptic therapies, reducing side effects, and improving neurodevelopmental outcomes and quality of life. The focus of this review is to discuss the pharmacotherapy, including the most updated published efficacy and safety data, involved in treating refractory epilepsy as a result of metabolic errors.

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Section: Biotinidase Deficiencymentioning

confidence: 99%

Inborn Errors of Metabolism in Pediatric Epilepsy

Cosnahan¹,

Campbell²

2019

The Journal of Pediatric Pharmacology and Therapeutics

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“…Pyridoxine could be introduced later, replacing pyridoxal-5-phosphate as a cheaper and similarly effective alternative, if PDE diagnosis is confirmed 17) . Folinic acid responsive epilepsies are caused by low concentration of 5-methyltetrahydrofolate (MTHF) in the cerebrospinal fluid (CSF), which is associated with various neurological conditions 18) . Genetic or autoimmune mechanisms cause cerebral folate deficiency and delayed treatment may lead to encephalopathy with severe learning disabilities.…”

Section: Epileptic Encephalopathy Syndromes In Infancymentioning

confidence: 99%

“…Patients either do not respond to pyridoxine at all or exhibit only a temporary improvement. However, such patients show a marked neurological recovery including cessation of seizures upon folinic acid treatment 18) . Biotinidase deficiency is a biotin-responsive metabolic disorder causing impairment of functions of multiple carboxylases and presenting with seizures, hypotonia, visual/auditory symptoms, eczema, and alopecia.…”

Section: Epileptic Encephalopathy Syndromes In Infancymentioning

confidence: 99%

“…Biotinidase deficiency is a biotin-responsive metabolic disorder causing impairment of functions of multiple carboxylases and presenting with seizures, hypotonia, visual/auditory symptoms, eczema, and alopecia. Untreated children usually have neurocutaneous features between the ages of 2 and 5 months 18 20) . Seventy percent of patients have various type of seizures including infantile spasms 21) .…”

Section: Epileptic Encephalopathy Syndromes In Infancymentioning

confidence: 99%

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Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes

Hwang

Kwon

2015

Korean J Pediatr

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Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and neuroimaging. If primary biochemical investigations exclude precipitating conditions, a trial with the administration of a vitaminic compound (pyridoxine, pyridoxal-5-phosphate, or folinic acid) can then be initiated regardless of presumptive seizure causes. Patients with unclear etiologies should be considered for a further workup, which should include an evaluation for inherited metabolic defects and genetic analyses. Targeted next-generation sequencing panels showed a high diagnostic yield in patients with epileptic encephalopathy. Mutations associated with the emergence of epileptic encephalopathies can be identified in a targeted fashion by sequencing the most likely candidate genes. Next-generation sequencing technologies offer hope to a large number of patients with cryptogenic encephalopathies and will eventually lead to new therapeutic strategies and more favorable long-term outcomes.

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“…117 Other vitamin response epilepsies will typically present during infancy, but late onset PNPO deficiency responding only to PLP as well as late onset biotinidase deficiency responding to biotin have both been described. 118,119 Thus, a trial of PLP or biotin could be considered in refractory SE.…”

Section: Refractory Status Epilepticusmentioning

confidence: 99%

Status Epilepticus and Refractory Status Epilepticus Management

Abend¹,

Bearden²,

Helbig³

et al. 2014

Seminars in Pediatric Neurology

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Status epilepticus (SE) describes persistent or recurring seizures without a return to baseline mental status, and is a common neurologic emergency. SE can occur in the context of epilepsy or may be symptomatic of a wide range of underlying etiologies. The clinician’s aim is to rapidly institute care that simultaneously stabilizes the patient medically, identifies and manages any precipitant conditions, and terminates seizures. Seizure management involves “emergent” treatment with benzodiazepines followed by “urgent” therapy with other anti-seizure medications. If seizures persist then refractory SE is diagnosed and management options include additional anti-seizure medications or infusions of midazolam or pentobarbital. This paper reviews the management of pediatric SE and RSE.

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Vitamin-Responsive Epileptic Encephalopathies in Children

Cited by 13 publications

References 87 publications

Inborn Errors of Metabolism in Pediatric Epilepsy

Inborn Errors of Metabolism in Pediatric Epilepsy

Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes

Status Epilepticus and Refractory Status Epilepticus Management

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