Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis

M.-L. Frémond (1, 2, 3) , P. Pérot (4) , E. Muth (5) , G. Cros (1, 2, 3) , M. Dumarest (4) , N. Mahlaoui (6, 7, 1, 3, 2) , D. Seilhean (8, 9) , I. Desguerre (1, 2, 3) , C. Hébert (5) , N. Corre-Catelin (10) , B. Neven (2, 1, 3) , M. Lecuit (1, 11, 2, 12, 3) , S. Blanche (1, 2, 3) , C. Picard (6, 1) , Marc Eloit (4, 5)

1 CHU Necker - Enfants Malades [AP-HP]
2 UPD5 - Université Paris Descartes - Paris 5
3 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
4 Découverte de Pathogènes - Pathogen Discovery
5 PathoQuest
6 CEREDIH - Centre de Référence Déficits Immunitaires Héréditaires
7 Inserm U980 - Génétique Humaine des Maladies Infectieuses
8 CHU Pitié-Salpêtrière [AP-HP]
9 UPMC - Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie
10 ICAReB - Investigation Clinique et d’Accès aux Ressources Biologiques (Plate-forme) - Clinical Investigation and Access to BioResources
11 Service des Maladies infectieuses et tropicales [CHU Necker]
12 Biologie des Infections - Biology of Infection

A boy with X-linked agammaglobulinemia experienced progressive global motor decline, cerebellar syndrome, and epilepsy. All standard polymerase chain reactions for neurotropic viruses were negative on cerebrospinal fluid and brain biopsy. Next-generation sequencing allowed fast identification of a new astrovirus strain (HAstV-VA1/HMO-C-PA), which led to tailor the patient's treatment, with encouraging clinical monitoring over 1 year.

Keywords: agammaglobulinemia; astrovirus; Bruton; encephalitis

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Human health and pathology; Life Sciences [q-bio]; Human health and pathology; Infectious diseases; Life Sciences [q-bio]; Microbiology and Parasitology; Life Sciences [q-bio]; Microbiology and Parasitology; Virology

M.-L. Frémond, P. Pérot, E. Muth, G. Cros, M. Dumarest, et al.. Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis. Journal of the Pediatric Infectious Diseases Society, 2015, 4 (3), pp.e53-e57. ⟨10.1093/jpids/piv040⟩. ⟨pasteur-02452610⟩