title: Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
abstract: Introduction Variants in the CACNA1A gene on chromosome 19p13 result in a spectrum of neurological phenotypes ranging from familial or sporadic hemiplegic migraine to congenital or progressive encephalopathies. Patients with CACNA1A variants often show acute attacks with ataxia or hemiplegia till coma, sometimes related to unilateral brain oedema. No guidelines for the medical management of these attacks are available since treatment is empiric, and many cases do not respond to common antimigraine drugs. Case description We report on the emergency personalized treatment protocol used in an 11 year-old girl with CACNA1A-related encephalopathy for the management of acute attacks of headache, hemiconvulsions and hemiplegia with coma. Discussion Combined corticosteroid pulses and hypertonic solution led to a reduction in severity and duration of acute attacks when administered in the early stages, characterized by migraine, seizure, fever, vomiting and impairment of consciousness associated to hemispheric slowing on the EEG.
authors.affiliation: 1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Camia
authors.affiliation: 1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Pisciotta
authors.affiliation: 2 Neuroradiology Unit, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Morana
authors.affiliation: 3 Clinic of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Schiaffino
authors.affiliation: 4 First Aid and Emergency Department, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Renna
authors.affiliation: 5 IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy.|6 IRCCS San Raffaele Scientific Institute Laboratory of Clinical Molecular Biology, Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Carrera
authors.affiliation: 6 IRCCS San Raffaele Scientific Institute Laboratory of Clinical Molecular Biology, Milan, Italy.|7 Vita-Salute San Raffaele University, chair of Clinical Pathology, Milan, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.affiliation: 1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Baglietto
authors.affiliation: 1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Edvige
authors.initials: E
authors.lastname: Veneselli
authors.affiliation: 8 "La Nostra Famiglia" Association, Scientific Institute E. Medea, Varazze-Savona, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Siri
authors.affiliation: 1 Unit of Child Neuropsychiatry, Head-Neck and Neuroscience Department, Giannina Gaslini Institute, Genoa, Italy.
authors.forename: Maria Margherita
authors.initials: MM
authors.lastname: Mancardi
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use*; D001929:Brain Edema / Q000188:drug therapy* / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics; D002648:Child; D003907:Dexamethasone / Q000627:therapeutic use; D003875:Drug Eruptions / Q000209:etiology; D005260:Female; D005632:Fructose / Q000031:analogs & derivatives / Q000627:therapeutic use; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D000077213:Lamotrigine; D020325:Migraine with Aura / Q000188:drug therapy* / Q000235:genetics; D020125:Mutation, Missense; D000077236:Topiramate; D014227:Triazines / Q000009:adverse effects; D020864:Calcium Channels, N-Type
chemical_list: D000927:Anticonvulsants; D015220:Calcium Channels; D003907:Dexamethasone; D005632:Fructose; D005938:Glucocorticoids; D000077213:Lamotrigine; D000077236:Topiramate; D014227:Triazines; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type
keywords: Hemiplegic migraine; brain oedema; case report; cerebellar atrophy; recurrent coma; steroids