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ESSENTIALS OF DIAGNOSIS
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ESSENTIALS OF DIAGNOSIS
Epilepsy in an infant should be considered when seizures are not provoked by an acute, potentially reversible cause.
Epilepsies that present in infancy range from those that are self-limited to others that are marked by significant encephalopathy.
Some epilepsies have specific treatments, and early identification can have management implications.
Initial diagnostic tools include history, exam, laboratory findings, lumbar puncture, neuroimaging, electroencephalography, and genetic testing. Empiric treatment can be diagnostically useful.
Infantile epilepsies include those with presentation as a neonate (<28 days of age) or an infant (28 days to 12 months).
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GENERAL CONSIDERATIONS
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Seizures affect 1.5 to 3.5 per 1000 full-term newborns and 10 to 130 per 1000 preterm newborns,1 with the great majority of these seizures being provoked. Clinically subtle seizures are prevalent in neonates, making recognition and treatment challenging.2 Prognosis for patients with neonatal and infantile epilepsy varies widely. Early seizure identification is crucial, because prompt and sometimes specific treatment can impact long-term prognosis.3 This chapter will cover epilepsy syndromes with onset in the neonatal period (first 28 days) and during infancy (first 12 months). We will discuss the more common epilepsy syndromes, as well as some rare syndromes that are important due to specific management implications.
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Recent technologic advancements in molecular genetics have led to the identification of numerous pathogenic genetic mutations that are implicated in epilepsy. Although there is significant genotype-phenotype heterogeneity, clinical testing has become increasingly accessible and should be considered early to maximize identification of potentially treatable disorders.
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A detailed history of the clinical event is helpful, as is any family history including febrile seizures, developmental delay, intellectual disability, and other neurologic diagnoses.
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Onset of seizures in neonates is typically focal; generalized tonic-clonic (GTC) semiology is rare. Motor automatisms may be seen, including oro-buccal-lingual movements and abnormal eye movements. Autonomic changes can be part of seizure semiology, although they are rarely the sole clinical manifestation. As the infant develops and the brain myelinates, seizure semiologies broaden to include generalized types as seen in older patients.
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A complete neurologic exam, including mental status and tone, is indispensable. Encephalopathy is an important part of the symptomatology of some epilepsies, and signs include poor feeding, irritability, and abnormal social development. A careful dermatologic exam may raise suspicion for a neurocutaneous disorder.
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Lumbar puncture is obligatory in infants under 2 months of age presenting with seizure, as well as older children with seizure and altered mental status. Cerebrospinal fluid (CSF) studies should include cell count, protein, glucose (with concurrent serum glucose), bacterial culture with Gram stain, and basic viral studies. Additional CSF studies may be indicated, including amino acid or neurotransmitter analysis. A ...