ORIGINAL ARTICLE Diagnosis delay in West syndrome: misdiagnosis and consequences Stéphane Auvin & Adam L. Hartman & Béatrice Desnous & Anne-Christine Moreau & Corinne Alberti & Catherine Delanoe & Alfonso Romano & Gaetano Terrone & Eric H. Kossoff & Ennio Del Giudice & Luigi Titomanlio Received: 27 May 2012 / Accepted: 31 July 2012 / Published online: 15 August 2012 # Springer-Verlag 2012 Abstract West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant duration of loss of consciousness (i.e., as in absence epilepsy). Infantile spasms may lead to mis- diagnosis by pediatricians and other primary care providers. We assessed the missed diagnoses prior to the diagnosis of infantile spasms. We hypothesized that a delay in treatment may have consequences on neurologic outcome. We con- ducted a multicenter, retrospective, observational study to evaluate occurrence of misdiagnosis and its possible con- sequences. We performed a multivariate analysis to evaluate the risk for the outcome 2 years after the diagnosis of infantile spasms. We included 83 infants over a 5-year period. The majority of consulted physicians (301 of 362) did not suggest any specific diagnosis while the others suggested gastroesophageal reflux (7 %), constipation (7 %), or colitis (3 %). Results indicated that a poor outcome was related to a delay in diagnosis, which was observed regardless of the existence of cognitive involvement prior to the start of infantile spasms (Relative Risk: RR 12.08 [1.52– 96.3]). These results highlight the importance of making an early diagnosis of infantile spasms. Keywords Diagnosis delay . Epilepsy . Infantile spasms . Misdiagnosis . Outcome . West syndrome S. Auvin : B. Desnous : L. Titomanlio Institut National de la santé et de la recherche médicale, U676 Paris, France S. Auvin : B. Desnous : A.-C. Moreau : C. Alberti : L. Titomanlio Faculté de Médecine Denis Diderot, Université Paris 7, Paris, France S. Auvin : B. Desnous Assistance Publique Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France A. L. Hartman : E. H. Kossoff Departments of Neurology and Pediatrics, Johns Hopkins Hospital, Baltimore, MA, USA A.-C. Moreau : C. Alberti Assistance Publique Hôpitaux de Paris, Hôpital Robert Debré, Unité d’Epidémiologie Clinique, Institut National de la santé et de la recherche médicale, CIE 5, Paris, France C. Delanoe Assistance Publique Hôpitaux de Paris, Hôpital Robert Debré, Service des Explorations Fonctionnelles, Paris, France A. Romano : G. Terrone : E. Del Giudice Federico II University, Naples, Italy L. Titomanlio Assistance Publique Hôpitaux de Paris, Hôpital Robert Debré, Service des Urgences Pédiatriques, Paris, France S. Auvin (*) Service de Neurologie Pédiatrique et des Maladies Métaboliques CHU Hôpital, Robert Debré 48, boulevard Sérurier, 75935 Paris Cedex 19, France e-mail: auvin@invivo.edu Eur J Pediatr (2012) 171:1695–1701 DOI 10.1007/s00431-012-1813-6