title: A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.
abstract: OBJECTIVE
  To identify the aetiology of patients with infantile spasms and propose practical guidelines for diagnostic strategies.
  
  
  METHODS
  We performed a retrospective study of children with West syndrome. Prenatal and birth medical history, characteristics of epilepsy, psychomotor development, biological and genetic screening, and aetiology were reported. Brain MRI was performed at least once and was repeated after two years of age if no aetiology was identified.
  
  
  RESULTS
  Eighty children were included. Aetiology was identified in 40 children: 17 with acquired cause (seven with stroke and six with hypoxic-ischaemic encephalopathy) and 23 with developmental pathology (seven with tuberous sclerosis, eight with cerebral malformations, and eight with various genetic abnormalities). The yield of brain imaging was high, providing a diagnosis for 32 patients. Two subtle brain lesions were detected only after two years of age, based on subsequent MRI. Genetic testing provided a diagnosis for the remaining eight patients.
  
  
  CONCLUSIONS
  Although this is a retrospective study, the results provide a basis to review the aetiology of infantile spasms and confirm the role of cerebral MRI in first-line diagnosis. Cases with a genetic aetiology have been diagnosed with increasing frequency due to better diagnostic capabilities. We propose guidelines for a practical diagnostic approach and discuss the relevant use of genetics in the future.
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France. Electronic address: anne-lise.poulat@chu-lyon.fr.
authors: Anne-Lise
authors: AL
authors: Poulat
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Gaetan
authors: G
authors: Lesca
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Damien
authors: D
authors: Sanlaville
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Gaelle
authors: G
authors: Blanchard
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Laurence
authors: L
authors: Lion-François
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Christelle
authors: C
authors: Rougeot
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Vincent
authors: V
authors: des Portes
authors: Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.
authors: Dorothée
authors: D
authors: Ville
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012189:Retrospective Studies; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000209:etiology*
keywords: Aetiology; Infantile spasms; West syndrome