Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Spring;14(2):79-86.

An Approach to Neurometabolic Epilepsy in Children with an Underlying Neurometabolic Disorder

Parvaneh Karimzadeh  1   2 , Parinaz Habibi  3
Affiliations

An Approach to Neurometabolic Epilepsy in Children with an Underlying Neurometabolic Disorder

Parvaneh Karimzadeh et al. Iran J Child Neurol. 2020 Spring.

Abstract

Objective: Inborn errors of metabolism (IEM) are rare conditions, with an overall incidence of 1 per 1000 births. Approximately 40-60% of IEM cases present with epilepsy as one of the main clinical presentations of the disease. A substantial number of these patients require timely and accurate diagnosis, besides specific treatment to prevent the irreversible outcomes.

Materials & methods: In this two-year retrospective study, a total of 128 patients with documented neurometabolic disorders were selected and evaluated in Mofid Children Hospital of Tehran, Iran, using a questionnaire to investigate the prevalence of epilepsy and seizure phenotypes. The collected data were evaluated in SPSS version 23.

Results: Seizure was reported in 49% (63/128) of the patients. A single episode of seizure occurred in 7 (7%) patients. The prevalence of epilepsy was estimated at 42% (54/128). The most common seizure types were generalized tonic-clonic (43%), tonic (22%), and myoclonic (10%), respectively. Epilepsy was refractory in 30% (16/54) of the patients, and the mean number of administered anti-seizure drugs for refractory cases was 3.2. Overall, 50% of refractory cases had mixed-type seizures, and 25% had generalized tonic-clonic and myoclonic seizures.

Conclusion: Neurometabolic disorders are rare, but treatable causes of epilepsy. A considerable number of patients (42%) in the current study presented with epilepsy as a clinical feature of IEM.

Keywords: Epilepsy; Inborn errors of metabolism; Neurometabolic disorders.

PubMed Disclaimer

References

    1. JM Saudubray. Clinical Approach to Treatable Inborn Metabolic Diseases: An Introduction. Journal of Inherited Metabolic Disease. 2006;29(2-3):261–274. - PubMed
    1. Youssef-Turki Epilepsy Aspects and EEG Patterns in Neuro-Metabolic Diseases. Journal of Behavioral and Brain Science. 2011:69–74.
    1. Mohamed S, El Melegy EM, Talaat I, etal Neurometabolic Disorders-Related Early ChildhoodEpilepsy: A Single-Center Experience in Saudi Arabia. PediatrNeonatol. 2015;56(6):393–401. - PubMed
    1. Mikati MA, Hani AJ. Seizures in Childhood. In: Kliegman RM, Stanton BF, St Geme JW, SchorNF , editors , editors. Nelson Textbook of Pediatrics. 20th ed. Philadelphia: Elsevier; 2016. p. 2823.
    1. El-HattabAW , In born errors of metabolism. clin perinotol, 2015;42(2):413–39.

LinkOut - more resources