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Semin Neurol 2020; 40(02): 219-235
DOI: 10.1055/s-0040-1705119
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Elise Brimble
1   Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California
,
Maura R.Z. Ruzhnikov 
1   Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California
2   Division of Medical Genetics, Department of Pediatrics, Stanford Medicine, Stanford, California
› Author Affiliations
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Publication History

Publication Date:
17 March 2020 (online)

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Abstract

Metabolic disorders represent rare but often treatable causes of seizures and epilepsy of neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to a specific diagnosis may be lacking or shrouded by acute illness. An important role of the consulting pediatric neurologist is to identify neonates with a possible metabolic or otherwise genetic diagnosis. In this review, the authors describe presenting signs and symptoms, a diagnostic framework, and disorder-specific treatment options for inborn errors of metabolism that may present in the neonatal period. Specific attention is given to the neurologic aspects of each condition, including the electroclinical phenotype and findings on brain imaging. As expedited diagnosis and prompt initiation of available therapies have been demonstrated to result in improved epilepsy and developmental outcomes, this work acts as a framework to guide evaluation when an inherited metabolic disorder is suspected. In addition to informing treatment, a definitive diagnosis allows for appropriate counseling regarding prognosis, any associated screening or preventive measures, and family planning.

Keywords

neonatal epilepsy - neonatal seizures - inborn errors of metabolism - metabolic disorders - genetic testing
 

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