In:
Seminars in Neurology, Georg Thieme Verlag KG, Vol. 40, No. 02 ( 2020-04), p. 219-235
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.
Type of Medium:
Online Resource
ISSN:
0271-8235
,
1098-9021
DOI:
10.1055/s-0040-1705119
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2020
detail.hit.zdb_id:
2072477-9
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