BACKGROUND: There is expanding knowledge about the phenotypic variability of patients with voltage gated potassium channel complex (VGKC) antibody mediated neurologic disorders. The phenotypes are diverse and involve disorders of the central and peripheral nervous systems. The central nervous system manifestations described in the literature include limbic encephalitis, status epilepticus, and acute encephalitis. PATIENT DESCRIPTION: We report a 4.5 year-old boy who presented with intractable Myoclonic Astatic Epilepsy (MAE) or Doose syndrome and positive VGKC antibodies in serum. Treatment with steroids led to resolution of seizures and electrographic normalization. CONCLUSION: This case widens the spectrum of etiologies for MAE to include autoimmunity, in particular VGKC auto-antibodies and CNS inflammation, as a primary or contributing factor. There is an evolving understanding of voltage gated potassium channel complex mediated autoimmunity in children and the role of inflammation and autoimmunity in MAE and other intractable pediatric epilepsy syndromes remains to be fully defined. A high index of suspicion is required for diagnosis and appropriate management of antibody mediated epilepsy syndromes.
BACKGROUND: There is expanding knowledge about the phenotypic variability of patients with voltage gated potassium channel complex (VGKC) antibody mediated neurologic disorders. The phenotypes are diverse and involve disorders of the central and peripheral nervous systems. The central nervous system manifestations described in the literature include limbic encephalitis, status epilepticus, and acute encephalitis. PATIENT DESCRIPTION: We report a 4.5 year-old boy who presented with intractable Myoclonic Astatic Epilepsy (MAE) or Doose syndrome and positive VGKC antibodies in serum. Treatment with steroids led to resolution of seizures and electrographic normalization. CONCLUSION: This case widens the spectrum of etiologies for MAE to include autoimmunity, in particular VGKC auto-antibodies and CNS inflammation, as a primary or contributing factor. There is an evolving understanding of voltage gated potassium channel complex mediated autoimmunity in children and the role of inflammation and autoimmunity in MAE and other intractable pediatric epilepsy syndromes remains to be fully defined. A high index of suspicion is required for diagnosis and appropriate management of antibody mediated epilepsy syndromes.
Authors: Marjorie A Illingworth; Donncha Hanrahan; Claire E Anderson; Kathryn O'Kane; Jennifer Anderson; Maureen Casey; Carlos de Sousa; J Helen Cross; Sukvhir Wright; Russell C Dale; Angela Vincent; Manju A Kurian Journal: Dev Med Child Neurol Date: 2011-05-18 Impact factor: 5.449
Authors: E Haberlandt; T Bast; A Ebner; H Holthausen; G Kluger; R Kravljanac; J Kröll-Seger; G Kurlemann; C Makowski; K Rostasy; E Tuschen-Hofstätter; G Weber; A Vincent; C G Bien Journal: Arch Dis Child Date: 2010-10-19 Impact factor: 3.791
Authors: Radhika Dhamija; Deborah L Renaud; Sean J Pittock; Andrew McKeon; Daniel H Lachance; Katherine C Nickels; Elaine C Wirrell; Nancy L Kuntz; Mary D King; Vanda A Lennon Journal: Pediatr Neurol Date: 2011-04 Impact factor: 3.372
Authors: Angela Vincent; Camilla Buckley; Jonathan M Schott; Ian Baker; Bonnie-Kate Dewar; Niels Detert; Linda Clover; Abigail Parkinson; Christian G Bien; Salah Omer; Bethan Lang; Martin N Rossor; Jackie Palace Journal: Brain Date: 2004-02-11 Impact factor: 13.501