Related Experiment Video
Updated: Apr 28, 2026
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Occasional seizures, epilepsy, and inborn errors of metabolism
Olivier Dulac1, Barbara Plecko2, Svetlana Gataullina3
1Paris Descartes University, Inserm U1129, Paris, France; CEA, Gif-sur-Yvette, France; Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Insights
Inborn errors of metabolism are a rare cause of paediatric seizures. Prompt identification is crucial for timely treatment, preventing metabolic decompensation, and offering genetic counseling.
Area of Science:
- Pediatric Neurology
- Metabolic Disorders
- Clinical Genetics
Background:
- Seizures are a frequent pediatric concern, with inborn errors of metabolism (IEM) being an uncommon but significant cause.
- IEM often present with diverse neurological symptoms, including hypotonia, movement disorders, and cognitive impairments, complicating seizure diagnosis.
Purpose of the Study:
- To highlight the importance of recognizing IEM in pediatric seizures.
- To emphasize the diagnostic challenges and therapeutic implications of IEM-associated epilepsy.
- To guide clinicians in identifying potential IEM cases through clinical findings and biochemical investigations.
Main Methods:
- Review of clinical presentations linking IEM to pediatric seizures.
- Analysis of diagnostic approaches including clinical examination and biochemical investigations.
- Discussion of treatment implications and recurrence risk counseling for IEM.
Main Results:
- Specific clinical features can suggest IEM as the etiology of seizures in children.
- Early diagnosis of IEM allows for targeted metabolic treatments, potentially avoiding decompensation.
- Accurate diagnosis facilitates appropriate genetic counseling regarding recurrence risks.
Conclusions:
- Identifying inborn errors of metabolism as a cause of pediatric seizures is critical for effective management.
- A high index of suspicion, combined with appropriate investigations, can lead to timely diagnosis and intervention.
- Recognizing IEM-associated epilepsy improves patient outcomes and informs family planning.
Abstract:
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement disorders, and cognitive disturbances. However, the occurrence of epilepsy associated with inborn errors of metabolism represents a major challenge that needs to be identified quickly; for some cases, specific treatments are available, metabolic decompensation might be avoided, and accurate counselling can be given about recurrence risk. Some clinical presentations are more likely than others to point to an inborn error of metabolism as the cause of seizures. Knowledge of important findings at examination, and appropriate biochemical investigation of children with seizures of uncertain cause, can aid the diagnosis of an inborn error of metabolism and ascertain whether or not the seizures are amenable to specific metabolic treatment.
Related Concept Videos
01:13Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
01:20Seizures l: Introduction
01:22Epilepsy ll: Types
01:24Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
01:20Inborn Errors of Metabolism
01:19Seizures ll: Types