Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome

• Published in: Pediatrics (Evanston) Vol. 128; no. 3; p. e699
• Main Authors: Reyes, Ila S, Hsieh, David T, Laux, Linda C, Wilfong, Angus A
• Format: Journal Article
• Language: English
• Published: United States 01.09.2011
• Subjects: Adolescent; Diphtheria-Tetanus-acellular Pertussis Vaccines - adverse effects; Epilepsies, Myoclonic - diagnosis; Epilepsies, Myoclonic - genetics; Female; Fever - complications; Humans; Infant; Male; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins - genetics; Pertussis Vaccine; Recurrence; Seizures - etiology; Sodium Channels - genetics; Syndrome; Vaccination - adverse effects
• ISSN: 1098-4275
• DOI: 10.1542/peds.2010-0887

Dravet syndrome is a rare epileptic encephalopathy linked to mutations in SCN1A (neuronal sodium channel α1 subunit) and characterized by an onset in infancy with polymorphous seizure types and developmental decline. It was reported recently that a proportion of patients previously diagnosed with alleged vaccine encephalopathy might possess SCN1A mutations and clinical histories that enabled a diagnosis of Dravet syndrome, but these results have not been replicated. We present here the cases of 5 children who presented for epilepsy care with presumed parental diagnoses of alleged vaccine encephalopathy caused by pertussis vaccinations in infancy. Their conditions were all rediagnosed years later, with the support of genetic testing, as Dravet syndrome. We hope that these cases will raise awareness of Dravet syndrome among health care providers who care for children and adolescents and aid in earlier recognition and diagnosis.